D. Chitayat

发表

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Michael Brudno, Sergiu Dumitriu, Marc Fiume, 2013, Human mutation.

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.

R. Weksberg, D. Chitayat, J. Squire, 2001, Genomics.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Monique M. Ryan, Stanley F. Nelson, Andrew J. Kornberg, 2012, Nature Genetics.

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Andrei L. Turinsky, Michael Brudno, Raveen Basran, 2017, American journal of human genetics.

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

C. Cremers, W. Reardon, H. Brunner, 1999, Nature Genetics.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

A. Noor, Y. Bombard, S. Horsburgh, 2020, Journal of Medical Genetics.

Structural variation of chromosomes in autism spectrum disorder.

D. Pinto, L. Feuk, S. Scherer, 2008, American journal of human genetics.

Referral patterns for microarray testing in prenatal diagnosis

J. Rosenfeld, L. Shaffer, B. Ballif, 2012, Prenatal diagnosis.

Referral patterns for microarray testing in prenatal diagnosis

J. Rosenfeld, L. Shaffer, B. Ballif, 2012, Prenatal diagnosis.

Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother

Gideon Koren, Andrea Gaedigk, G. Koren, 2006, The Lancet.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

NSD1 mutations generate a genome-wide DNA methylation signature

A L Turinsky, C. Cytrynbaum, R. Weksberg, 2015, Nature Communications.

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.

D. Chitayat, S. Hill, J. Marini, 2015, The Journal of clinical endocrinology and metabolism.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Sahar Mansour, Tim Morgan, Magdalena Götz, 2013, Nature Genetics.

Genetic transmission of cytochrome P450 2D6 (CYP2D6) ultrarapid metabolism: implications for breastfeeding women taking codeine.

G. Koren, D. Chitayat, A. Gaedigk, 2011, Current drug safety.

Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine.

Gideon Koren, Andrea Gaedigk, G. Koren, 2007, Canadian family physician Medecin de famille canadien.

Maternal Codeine is Not Safe for all Breast-Fed Infants

G. Koren, D. Chitayat, A. Gaedigk, 2006 .

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.

W. Brown, P. Jacobs, D. Chitayat, 1999, American journal of medical genetics.

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Stephen W. Scherer, Lucy R. Osborne, Joann Bodurtha, 2001, Nature Genetics.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Michael D. Wilson, R. Weksberg, S. Seneca, 2017, American journal of human genetics.

Tissue-specific methylation differences and cognitive function in fragile X premutation females.

D. Chitayat, D. Allingham-Hawkins, P. Ray, 1996, American journal of medical genetics.

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

S. Scherer, C. Marshall, R. Yuen, 2020, JAMA network open.

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion

B. Chung, D. Chitayat, D. Stavropoulos, 2017, American journal of medical genetics. Part A.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

Keppen–Lubinsky syndrome: Expanding the phenotype

L. Shaffer, D. Chitayat, L. Basel‐Vanagaite, 2009, American journal of medical genetics. Part A.

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

W. Reardon, H. Brunner, F. Luyten, 1997, Nature Genetics.

Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities

D. Chitayat, R. Babul‐Hirji, Riyana Babul-Hirji, 2000, Current opinion in obstetrics & gynecology.

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

M. Tominaga, D. Chitayat, M. Deardorff, 2018, American journal of human genetics.

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

L. D. de Vries, F. Groenendaal, M. Lequin, 2018, American Journal of Neuroradiology.

Evidence for somatic and germline mosaicism in CRASH syndrome

D. Chitayat, E. Fransen, P. Willems, 1998, Human mutation.

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

Í. Lopes-Cendes, S. Kish, R. Rosenberg, 1996, Neurology.

Role of amniotic fluid interphase fluorescence in situ hybridization (FISH) analysis in patient management

D. Chitayat, G. Ryan, R. Windrim, 2001, Prenatal diagnosis.

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

Y. Crow, D. Chitayat, H. Takai, 2016, Genes & development.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning

D. Chitayat, M. Meyn, R. Mendoza-Londono, 2021, American journal of medical genetics. Part A.

FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.

R. Weksberg, D. Chitayat, C. Shuman, 1996, American journal of medical genetics.

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

M. Bamshad, R. Tenconi, H. Brunner, 2001, American journal of human genetics.

Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development.

Susan Blaser, D. Chitayat, A. Toi, 2006, Radiographics : a review publication of the Radiological Society of North America, Inc.

High-definition flow combined with spatiotemporal image correlation in the diagnosis of fetal coarctation of the aorta

D. Levine, D. Chitayat, A. Pichiecchio, 2009 .

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

V. Jay, D. Chitayat, L. Becker, 1996, American journal of medical genetics.

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome

P. Shannon, D. Chitayat, E. Jaeggi, 2018, Prenatal diagnosis.

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and management

P. Shannon, D. Chitayat, S. Blaser, 2019, Prenatal diagnosis.

Omphalocele in Miller-Dieker syndrome: expanding the phenotype.

D. Chitayat, A. Toi, S. Blaser, 1997, American journal of medical genetics.

Mapping the Cellular Origin and Early Evolution of Leukemia in Down Syndrome

J. Dick, E. Lechman, L. Salmena, 2020, bioRxiv.

Alagille syndrome: clinical perspectives

D. Chitayat, B. Kamath, M. Saleh, 2016, The application of clinical genetics.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

A. Villa, M. Vihinen, L. Notarangelo, 2001, Human molecular genetics.

Limb defects in homozygous alpha-thalassemia: report of three cases.

D. Chitayat, M. Thomas, J. Waye, 1997, American journal of medical genetics.

Perinatal and first year follow‐up of patients with Prader‐Willi syndrome: normal size of hands and feet

M. Hayden, D. Chitayat, B. McGillivray, 1989, Clinical genetics.

Mucolipidosis type IV: clinical manifestations and natural history.

D. Chitayat, K. Hodgkinson, D. Whiteman, 1991, American journal of medical genetics.

heterogeneity in Cohen syndrome and clinical COH1 Mutational spectrum of

H. Hennies, D. Chitayat, M. Holder-Espinasse, 2006 .

Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

M. D. Del Bigio, D. Chitayat, A. Toi, 1994, American journal of medical genetics.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.

V. Jay, A. James, D. Chitayat, 1998, American journal of medical genetics.

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

Marcel A. Lauterbach, C. Schwartz, S. Ito, 2019, The Journal of clinical investigation.

A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases

P. Byers, D. Chitayat, W. Wilcox, 2002, Journal of medical genetics.

Optimal positioning of endotracheal tubes for ventilation of preterm infants.

M. Puterman, D. Chitayat, A. Rotschild, 1991, American journal of diseases of children.

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys–Dietz syndrome fibroblasts: a possible treatment?

D. Chitayat, C. Barnett, T. Bradley, 2011, European Journal of Human Genetics.

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

C. Ackerley, D. Chitayat, B. Robinson, 2011, Mitochondrion.

Second and first trimester estimation of risk for Down syndrome: implementation and performance in the SAFER study

P. V. Van Caeseele, G. Knight, G. Palomaki, 2010, Prenatal diagnosis.

Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study

D. Chitayat, C. Shuman, K. Anstey, 2018, Journal of Genetic Counseling.

Ebstein anomaly: report of a familial occurrence and prenatal diagnosis.

D. Chitayat, J. Fouron, N. McIntosh, 1992, American journal of medical genetics.

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis

D. Chitayat, A. Toi, P. Harris, 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

C. Antzelevitch, D. Chitayat, S. Blaser, 2012, American journal of medical genetics. Part A.

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

S. Tishkoff, C. Rotimi, A. Adeyemo, 2012, Genetics in Medicine.

Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life.

D. Chitayat, R. Weber, E. Jaeggi, 2014, JACC. Heart failure.

“A change in perspective”: Exploring the experiences of adolescents with hereditary tumor predisposition

A. Patenaude, D. Chitayat, D. Malkin, 2018, Pediatric blood & cancer.

Foetal "black bone" MRI: utility in assessment of the foetal spine.

D. Drossman, D. Chitayat, S. Blaser, 2015, The British journal of radiology.

P054: The impact of first trimester screening on trends in termination for chromosome abnormalities

D. Chitayat, M. Thomas, J. Johnson, 2003 .

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

H. Winter, J. Schweizer, D. Chitayat, 1997, Human Genetics.

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

D. Milewicz, D. Chitayat, A. Child, 1998, American journal of medical genetics.

Hand and fibrillin‐1 deposition abnormalities in Loeys–Dietz syndrome—expanding the clinical spectrum

D. Chitayat, B. Chung, P. Dirks, 2014, American journal of medical genetics. Part A.

Long-Term Neurodevelopment of Children Exposed In Utero to Ciclosporin After Maternal Renal Transplant

G. Koren, D. Chitayat, J. Cairney, 2010, Paediatric drugs.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene

G. Bejerano, A. Wenger, D. Chitayat, 2016, Journal of Medical Genetics.

Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease.

Í. Lopes-Cendes, D. Chitayat, G. Rouleau, 1996, Archives of neurology.

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

R. Pfundt, E. Kossoff, E. Leshinsky‐Silver, 2016, Epilepsia.

A partial deficiency of interleukin-7Rα is sufficient to abrogate T-cell development and cause severe combined immunodeficiency

D. Chitayat, C. Roifman, N. Sharfe, 2000 .

A novel disease-causing mutation in AVPR2: Q96H

D. Geary, D. Chitayat, Mathieu Lemaire, 2008, NDT plus.

The pathology of incipient polymicrogyria

P. Shannon, D. Chitayat, P. Diamandis, 2017, Brain and Development.

Evidence for Somatic and Germhe Mosaicism in ynarome

D. Chitayat, E. Fransen, P. Willems, 1998 .

Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development

H. Zoghbi, D. Chitayat, S. Maricich, 2011, Journal of child neurology.

Fetal Cardiomyopathies: Pathogenic Mechanisms, Hemodynamic Findings, and Clinical Outcome

J. Smallhorn, D. Chitayat, L. Hornberger, 2002, Circulation.

Breast and Ovarian Cancer: The Forgotten Paternal Contribution

C. Greenwood, B. Rosen, D. Chitayat, 2011, Journal of Genetic Counseling.

Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studies.

T. Einarson, G. Koren, D. Chitayat, 2000, Teratology.

Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update

G. Koren, S. Vohra, D. Chitayat, 2015, Journal of clinical pharmacology.

Fetal cardiac defects and increased nuchal translucency thickness: a prospective study.

D. Chitayat, L. Hornberger, F. Mcauliffe, 2004, American journal of obstetrics and gynecology.

The ontogeny of P-glycoprotein in the developing human blood–brain barrier: implication for opioid toxicity in neonates

G. Koren, P. Shannon, D. Chitayat, 2015, Pediatric Research.

Genetics of Recurrent Pregnancy Loss

D. Chitayat, A. Bashiri, A. Koifman, 2016 .

Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures

D. Chitayat, J. Lazier, N. Martin, 2016, American journal of medical genetics. Part A.

Malignant hematological disorders in children with Wolf–Hirschhorn syndrome

D. Chitayat, M. Freedman, A. Sharathkumar, 2003, American journal of medical genetics. Part A.

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?

D. Chitayat, O. Flodmark, B. McGillivray, 1990, American journal of medical genetics.

Hair Concentrations of Nicotine and Cotinine in Women and Their Newborn Infants

G. Koren, D. Chitayat, M. Greenwald, 1994 .

Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies

C. Marshall, A. Noor, B. Thiruvahindrapuram, 2022, Prenatal diagnosis.

SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders

D. Chitayat, T. Montgomery, J. Kohlhase, 2005, Human mutation.

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

A. Nordgren, D. Chitayat, J. Eisfeldt, 2021, Journal of Human Genetics.

In utero exposure to therapeutic radiation for Hodgkin lymphoma.

G. Koren, D. Chitayat, N. Djokanovic, 2009, Canadian family physician Medecin de famille canadien.

Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation

D. Chitayat, A. Marwaha, E. Gauda, 2020, American journal of medical genetics. Part A.

Basilar artery duplication associated with pituitary duplication: a new finding.

D. Chitayat, M. Shroff, S. Blaser, 2003, AJNR. American journal of neuroradiology.

Brain abnormalities in patients with Beckwith–Wiedemann syndrome

R. Weksberg, S. Pu, S. Wodak, 2012, American journal of medical genetics. Part A.

Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15

R. Weksberg, D. Chitayat, P. Ray, 2007, American journal of medical genetics. Part A.

Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome?

D. Chitayat, J. Friedman, M. Norman, 1991, American journal of medical genetics.

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

L. Hazrati, C. Fallet-Bianco, P. Shannon, 2019, American journal of medical genetics. Part A.

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis

N. Okun, D. Chitayat, A. Toi, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome).

P. Shannon, D. Chitayat, A. Koifman, 2009, Clinical dysmorphology.

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet -granule biogenesis Running title: VPS33B required for platelet -granule biogenesis

D. Chitayat, P. Gissen, W. Kahr, 2013 .

Requirement of VPS 33 B , a member of the Sec 1 / Munc 18 protein family , in megakaryocyte and platelet-granule biogenesis

D. Chitayat, P. Gissen, W. Kahr, 2005 .

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus

D. Chitayat, O. Mamer, O. Mamer, 1992, Journal of Inherited Metabolic Disease.

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1‐pyrroline‐5‐carboxylate synthase (P5CS)

S. Robertson, W. Halliday, D. Chitayat, 2011, American journal of medical genetics. Part A.

Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation.

P. Shannon, D. Chitayat, E. Jaeggi, 2013, The American journal of pathology.

Families with Autosomal Dominant Brachydactyly Type E, Short Stature, and Severe Hypertension

T. Wienker, D. Chitayat, F. Luft, 1998, Annals of Internal Medicine.

Inversion Region for Hypertension and Brachydactyly on Chromosome 12p Features Multiple Splicing and Noncoding RNA

D. Chitayat, F. Luft, Y. Neuenfeld, 2008, Hypertension.

Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants.

G. Remington, G. Koren, R. Zipursky, 2002, The American journal of psychiatry.

Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases.

D. Chitayat, A. Toi, E. Winsor, 1998, American journal of medical genetics.

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

G. Bresnick, D. Rimoin, D. Chitayat, 1997, American journal of medical genetics.

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

P. Shannon, D. Chitayat, Ashish R Deshwar, 2020, Clinical genetics.

Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives

D. Chitayat, C. Shuman, Clare A. Gibbons, 2019, Journal of genetic counseling.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome.

D. Chitayat, R. Hutcheon, H. Nitowsky, 1987, American journal of diseases of children.

Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.

D. Chitayat, C. E. Pearson, Julien L. Marcadier, 2003, American journal of human genetics.

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

D. Chitayat, L. Smoot, S. Riazi, 2002, American journal of human genetics.

Juvenile galactosialidosis in a white male: a new variant.

D. Chitayat, J. Dimmick, J. Hall, 1988, American journal of medical genetics.

Early fetal echocardiography--a reliable prenatal diagnosis tool.

D. Chitayat, L. Hornberger, E. Jaeggi, 2005, American journal of obstetrics and gynecology.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Emily H Turner, J. Shendure, J. Swanson, 2013, American journal of human genetics.

Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis

D. Chitayat, A. Toi, M. Sermer, 1999, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2017, Genetics in Medicine.

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes

P. Shannon, D. Chitayat, N. Watkins, 2019, Prenatal diagnosis.

Functional Expression of Multidrug-Resistance (MDR) Transporters in Developing Human Fetal Brain Endothelial Cells

D. Chitayat, E. Bloise, G. Império, 2022, Cells.

Hair concentrations of nicotine and cotinine in women and their newborn infants.

G. Koren, D. Chitayat, J. Klein, 1995, JAMA.

Array‐based genomic delineation of a familial duplication 11q14.1–q22.1 associated with recurrent depression

D. Chitayat, T. Ben-Omran, Jillian Murphy, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases

E. Zackai, J. Kingdom, D. Chitayat, 2008, American journal of medical genetics. Part A.

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.

D. Rimoin, D. Chitayat, H. Gruber, 1993, American journal of medical genetics.

Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.

C. Ackerley, D. Chitayat, L. Becker, 2000, Pediatric neurology.

Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome.

J. Rutka, D. Chitayat, J. Michaud, 1995, American journal of medical genetics.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

E. Bertini, W. Halliday, J. Tolmie, 2008, American journal of medical genetics. Part A.

Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.

D. Chitayat, S. Nakagawa, R. Marion, 1988, American journal of medical genetics.

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis.

D. Chitayat, P. Gissen, W. Kahr, 2005, Blood.

Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.

D. Chitayat, M. Patel, J. Callahan, 1999, American journal of medical genetics.

Fetal pericardial teratoma: presentation of two cases and review of literature.

D. Chitayat, L. Hornberger, A. Toi, 2006, American journal of perinatology.

Brain and Placental Pathology in Fetal COL4A1 Related Disease

P. Shannon, D. Chitayat, T. van Mieghem, 2021, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.

D. Chitayat, O. Mamer, C. Scriver, 1992, The Journal of pediatrics.

Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review.

J. Kingdom, D. Chitayat, A. Toi, 2004, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging

D. Chitayat, S. Blaser, K. E. Murphy, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Prenatal Diagnosis of Fetal Exencephaly Associated with Amniotic Band Sequence at 17 Weeks of Gestation by Fetal Magnetic Resonance Imaging

D. Chitayat, S. Blaser, L. Velsher, 2006, Fetal Diagnosis and Therapy.

Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia

G. Tomlinson, P. Shannon, D. Chitayat, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related Disorders

D. Chitayat, S. Blaser, C. Raybaud, 2006, Journal of child neurology.

The Fetal Cerebellar Vermis: Assessment for Abnormal Development by Ultrasonography and Magnetic Resonance Imaging

W. Halliday, D. Chitayat, A. Toi, 2007, Ultrasound quarterly.

3-Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’)

B. Rosenblatt, D. Chitayat, K. Gibson, 1992, Journal of Inherited Metabolic Disease.

Hypospadias in males with intrauterine growth restriction due to placental insufficiency: The placental role in the embryogenesis of male external genitalia

J. Kingdom, D. Chitayat, D. Wherrett, 2010, American journal of medical genetics. Part A.

BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.

L. Hazrati, D. Chitayat, S. Blaser, 2018, Journal of neuropathology and experimental neurology.

Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucency

A. Noor, D. Chitayat, G. Ryan, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

N. Okun, D. Chitayat, C. V. van Karnebeek, 2016, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Unusual cardiac presentation of congenital cytomegalovirus infection

P. Shannon, D. Chitayat, E. Jaeggi, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Williams syndrome in a preterm infant with phenotype of Alagille syndrome

L. Shaffer, B. Bejjani, D. Chitayat, 2008, American journal of medical genetics. Part A.

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.

J. Smallhorn, D. Chitayat, L. Hornberger, 2003, The Journal of pediatrics.

Ataxia and pancytopenia caused by a mutation in TINF2

S. Adams, P. Lansdorp, D. Chitayat, 2008, Human Genetics.

A co-twin fetus papyraceus as a cause of elevated AFP and acetylcholinesterase in the amniotic fluid of the normal co-twin.

D. Chitayat, D. Kalousek, D. Applegarth, 1991, Pediatric pathology.

No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.

N. Okun, D. Chitayat, Isabelle De Bie, 2017, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.

D. Chitayat, L. Hornberger, P. von Dadelszen, 2000, American journal of medical genetics.

Middle and inner ear malformations in mutation‐proven branchio‐oculo‐facial (BOF) syndrome: Case series and review of the literature

B. Papsin, W. Reardon, W. Meschino, 2012, American journal of medical genetics. Part A.

22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness

C. Cytrynbaum, R. Weksberg, A. Bassett, 2012, Journal of Genetic Counseling.

Sudden infant death in a patient with FGFR3 P250R mutation

D. Chitayat, S. Blaser, P. Shah, 2006, American journal of medical genetics. Part A.

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

S. Scherer, B. Fernandez, R. Weksberg, 2002, Genomics.

Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single‐center experience and review of the literature

P. Shannon, D. Chitayat, E. Jaeggi, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses

J. Smallhorn, D. Chitayat, L. Hornberger, 2009, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.

R. Weksberg, J. Kingdom, D. Chitayat, 2008, Developmental biology.

Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis.

M. Buchwald, D. Chitayat, E. Tizzano, 1994, The American journal of pathology.

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

D. Chitayat, M. Nowaczyk, A. Feigenbaum, 1996, American journal of medical genetics.

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy

E. Shoubridge, D. Chitayat, E. Andermann, 1998, Neurology.

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome?

B. Chung, R. Weksberg, C. Hawkins, 2012, American journal of medical genetics. Part A.

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

R. Marzella, D. Chitayat, Daniela Iaconis, 2008, Molecular medicine reports.

Congenital toxoplasmosis: prenatal diagnosis, treatment and postnatal outcome

D. Chitayat, A. Toi, S. Blaser, 1999, Prenatal Diagnosis.

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome

D. Chitayat, I. Adatia, D. Human, 2004, American journal of medical genetics. Part A.

Factors Influencing Participation in a Population-based Biorepository for Childhood Heart Disease

D. Chitayat, S. Mital, E. Oechslin, 2012, Pediatrics.

Association of Alveolar Rhabdomyosarcoma with the Beckwith-Wiedemann Syndrome

R. Weksberg, D. Chitayat, J. Squire, 2001, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Williams syndrome presenting with findings consistent with Alagille syndrome

H. Whyte, D. Chitayat, B. Kamath, 2014, Clinical case reports.

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

J. Rosenfeld, R. Tervo, B. Torchia, 2011, Molecular Syndromology.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Transmembrane Regulator in Human Reproductive Tissues

M. Buchwald, D. Chitayat, E. Tizzano, 2007 .

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome.

D. Chitayat, J. Friedman, R. Couch, 1990, American journal of medical genetics.

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)

L. Shaffer, D. Chitayat, M. Gajecka, 2008, American journal of medical genetics. Part A.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

P. Striano, L. Bird, D. Chitayat, 2022, Brain : a journal of neurology.

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Andreas Busjahn, Jens Jordan, Herbert Schulz, 2015, Nature Genetics.

Maple syrup urine disease: Interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination

D. Chitayat, O. Mamer, C. Scriver, 1992, Journal of Inherited Metabolic Disease.

Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene

D. Chitayat, S. Blaser, A. Howard, 2012, American journal of medical genetics. Part A.

Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.

P. Shannon, D. Chitayat, S. Keating, 2014, Taiwanese journal of obstetrics & gynecology.

Hair analysis as a marker for fetal exposure to maternal smoking.

G. Koren, D. Chitayat, J. Klein, 1993, The New England journal of medicine.

A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency.

D. Chitayat, C. Roifman, N. Sharfe, 2000, Blood.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

A. Nordgren, P. Shannon, D. Chitayat, 2017, Scientific Reports.

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

D. Chitayat, A. Summers, S. Keating, 2009, Prenatal diagnosis.

Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene

A. Noor, P. Shannon, D. Chitayat, 2013, American journal of medical genetics. Part A.

Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues.

M. Buchwald, D. Chitayat, E. Tizzano, 1993, Human molecular genetics.

Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder?

D. Chitayat, J. Fouron, N. McIntosh, 1992, American journal of medical genetics.

Cardiac diverticulum with pericardial effusion: report of two new cases treated by in‐utero pericardiocentesis and a review of the literature

D. Chitayat, L. Hornberger, F. Mcauliffe, 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Fragile X testing in obstetrics and gynaecology in Canada.

D. Chitayat, P. Wyatt, 2008, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada

D. Chitayat, B. Eng, J. Waye, 2002, Journal of medical genetics.

PTPN11 gene mutation associated with abnormal gonadal determination

D. Chitayat, S. Keating, Shailly Jain Ghai, 2011, American journal of medical genetics. Part A.

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency

A. Noor, P. Shannon, D. Chitayat, 2020, Clinical genetics.

Fetal cardiac tumors: a single‐center experience of 40 cases

D. Chitayat, E. Jaeggi, S. Yoo, 2010, Prenatal diagnosis.

what are the risks? Pregnancy in women with congenital heart defects:

S. Siu, D. Chitayat, G. Webb, 2006 .

Pregnancy in women with congenital heart defects: what are the risks?

S. Siu, D. Chitayat, G. Webb, 1999, Heart.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

L. Vissers, D. Wieczorek, D. Chitayat, 2019, Kidney international.

Fetal Renal Echogenicity Associated with Maternal Focal Segmental Glomerulosclerosis: The Effect of Transplacental Transmission of Permeability Factor suPAR

D. Chitayat, Xuexiang Wang, C. Licht, 2018, Journal of clinical medicine.

MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty‐nine novel mutations identified

D. Chitayat, G. Meroni, R. Ferrentino, 2007, Human mutation.

Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

P. Shannon, D. Chitayat, A. Toi, 2007, American journal of medical genetics. Part A.

An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.

M. Shago, D. Chitayat, P. Chakraborty, 2002, American journal of medical genetics.

Limb defects in homozygous α‐thalassemia: Report of three cases

D. Chitayat, J. Waye, K. O'Brien, 1997 .

Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

M. Hurles, J. Schuurs-Hoeijmakers, B. D. de Vries, 2016, American journal of medical genetics. Part A.

Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway

D. Chitayat, Stephen C. Brown, Giles F. Cruickshanks, 1999, Canadian journal of anaesthesia = Journal canadien d'anesthesie.

Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.

D. Chitayat, K. Hodgkinson, I. Sando, 1992, American journal of medical genetics.

Juvenile myelomonocytic leukemia and Noonan syndrome.

D. Chitayat, A. Zipursky, M. Freedman, 1999, Journal of pediatric hematology/oncology.

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita

P. Shannon, D. Chitayat, N. Pillar, 2017, Prenatal diagnosis.

Gene therapy: perspectives from young adults with Leber’s congenital amaurosis

D. Chitayat, C. Shuman, R. Hayeems, 2021, Eye.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Evidence for multi-site closure of the neural tube in humans.

D. Chitayat, S. Langlois, D. Juriloff, 1993, American journal of medical genetics.

Abnormalities of the foetal cerebral cortex

D. Chitayat, A. Toi, S. Blaser, 2009, Prenatal diagnosis.

Carrier screening for thalassemia and hemoglobinopathies in Canada.

D. Chitayat, S. Langlois, J. Ford, 2008, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Long-term functional results following resection of neonatal sacrococcygeal teratoma

D. Chitayat, J. Langer, S. Ein, 2009, Pediatric Surgery International.

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Dipendra K. Aryal, D. Goldstein, J. McNamara, 2013, Neuron.

Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome

D. Chitayat, A. Toi, S. Blaser, 2011, Prenatal diagnosis.

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations

J. Mulliken, M. Vikkula, D. Chitayat, 2008, Human mutation.

Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.

D. Chitayat, K. Silver, E. Azouz, 1992, American journal of medical genetics.

Mild Idiopathic Infantile Hypercalcemia - Part 1: Biochemical and Genetic Findings.

C. Marshall, D. Chitayat, A. Daneman, 2021, The Journal of clinical endocrinology and metabolism.

Pseudohypoaldosteronism in a Female Infant and Her Family: Diversity of Clinical Expression and Mode of Inheritance

D. Chitayat, Z. Spirer, D. Ayalon, 1985 .

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita

D. Chitayat, G. Taylor, D. Nykanen, 2008, American journal of medical genetics. Part A.

What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness).

D. Chitayat, P. Lenane, B. Krafchik, 2006, Pediatric dermatology.

Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.

D. Chitayat, V. Riccardi, J. Friedman, 1989, Neurofibromatosis.

Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome.

R. Shprintzen, D. Chitayat, M. Cohen, 1987, American journal of diseases of children.

Oncology nurse training in cancer genetics

A. Paterson, B. Morrow, K. Aittomäki, 2001, Journal of medical genetics.

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

D. Chitayat, J. Phillips, P. Ray, 1998, American journal of medical genetics.

Atrial standstill associated with loss of atrial myocytes: a rare cause of fetal bradyarrhythmia.

D. Chitayat, E. Jaeggi, G. Taylor, 2009, Heart rhythm.

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.

D. Chitayat, R. Couch, J. Hall, 1990, American journal of medical genetics.

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

R. Spritz, D. Chitayat, S. Orlow, 1997, Human mutation.

Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.

D. Chitayat, J. Friedman, M. Johnston, 1990, American journal of medical genetics.

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

R. Spritz, D. Chitayat, K. Brøndum‐Nielsen, 1997, Human mutation.

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

V. Jay, D. Chitayat, A. Toi, 1998, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

S. Mehta, D. Chitayat, A. Zankl, 2008, Prenatal diagnosis.

Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.

Z. Gucev, D. Chitayat, W. Miller, 2013, The Journal of pediatrics.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

C. Walsh, H. Brunner, B. van der Zwaag, 2002, American journal of human genetics.

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases

B. Mcgillivray, D. Chitayat, H. Bruyèrè, 2006, Prenatal diagnosis.

Approach to the Newborn with Disorders of Sex Development

D. Chitayat, R. Babul‐Hirji, P. Sinajon, 2021, Congenital Anomalies in Neonates - Clinical Perspectives [Working Title].

Disorders of sex development

D. Chitayat, P. Sinajon, Saleh Albanyan, 2020, Clinical Molecular Medicine.

Diagnostic Approach to Prenatally Diagnosed Limb Abnormalities

D. Chitayat, A. Toi, O. Nevo, 2008 .

Fetal Alert Network: An integrated population-based fetal care network - Linking conception to outcome.

D. Chitayat, R. Windrim, C. Ottenhof, 2007, Paediatrics & child health.

The prognostic factors in the prenatal diagnosis of the echogenic fetal lung

D. Chitayat, R. Morrow, Greg Ryan, 1995, Prenatal diagnosis.

King syndrome: a genetically heterogenous phenotype due to congenital myopathies.

D. Chitayat, K. Hodgkinson, O. Ginsburg, 1992, American journal of medical genetics.

Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith‐Wiedemann syndrome

R. Weksberg, D. Chitayat, C. Shuman, 2021, Prenatal diagnosis.

Detection and enumeration of colonic mucosal cells in amniotic fluid using a colon epithelial‐specific monoclonal antibody

D. Chitayat, D. Kalousek, K. Das, 1990, Prenatal diagnosis.

Cavum veli interpositi: prenatal diagnosis and postnatal outcome

J. Rutka, D. Chitayat, A. Toi, 2005, Prenatal diagnosis.

Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes.

Tianhua Huang, D. Chitayat, A. Summers, 2002, American journal of obstetrics and gynecology.

Functional disomy of Xp: Prenatal findings and postnatal outcome

D. Chitayat, G. Seaward, E. Winsor, 2005, American journal of medical genetics. Part A.

The genetics you never knew: a genetics primer.

D. Chitayat, K. Jarvi, 2008, The Urologic clinics of North America.

Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

T. Yuen, D. Chitayat, Li Sun, 2013, Proceedings of the National Academy of Sciences.

DAX1 mutations map to putative structural domains in a deduced three-dimensional model.

R. Fletterick, R. Pagon, M. Genel, 1998, American journal of human genetics.

First‐trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome

D. Chitayat, R. Babul‐Hirji, J.M. Johnson, 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine.

A. Jefferies, G. Koren, D. Chitayat, 1994, Reproductive toxicology.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).

D. Chitayat, G. Costain, M. Inbar‐Feigenberg, 2018, Journal of pediatric genetics.

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

K. Devriendt, A. Irrthum, M. Vikkula, 2003, American journal of human genetics.

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

J. Gécz, A. Munnich, S. Robertson, 2001, American journal of human genetics.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

Prenatal screening for fetal aneuploidy in singleton pregnancies.

N. Okun, D. Chitayat, S. Langlois, 2011, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Findings in children exposed in utero to phenytoin and carbamazepine monotherapy: independent effects of epilepsy and medications.

G. Koren, D. Chitayat, D. Scolnik, 1997, American journal of medical genetics.

Severe, fetal‐onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

D. Chitayat, A. Toi, L. Becker, 2006, American journal of medical genetics. Part A.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

R. Pfundt, A. Fasano, A. Lozano, 2021, EMBO molecular medicine.

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

R. Weksberg, D. Chitayat, J. Squire, 2002, Human molecular genetics.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Ellen F. Macnamara, Colleen E. Wahl, J. Rosenfeld, 2018, American journal of human genetics.

First Trimester Ultrasound Diagnosis of Lethal Multiple Pterygium Syndrome

D. Chitayat, K. Fong, S. Keating, 2006, Fetal Diagnosis and Therapy.

Penoscrotal transposition: a case report and review.

D. Chitayat, J. Mackenzie, J. Balfe, 1994, American journal of medical genetics.

Mutation in the ADNP gene associated with Noonan syndrome features

D. Chitayat, M. Walkiewicz, Ebba Alkhunaizi, 2018, Clinical dysmorphology.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

B. McCrindle, D. Chitayat, S. Mital, 2013, Journal of the American Heart Association.

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence.

D. Chitayat, M. Vekemans, L. Zahed, 1993, American journal of medical genetics.

Roifman-Chitayat Syndrome

D. Chitayat, C. Roifman, Amarilla B. Mandola, 2020, Genetic Syndromes.

Dual loss of p110&dgr; PI3‐kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features

D. Merico, S. Grinstein, D. Chitayat, 2017, Journal of Allergy and Clinical Immunology.

QF‐PCR rapid aneuploidy screen and aCGH analysis of cell free fetal (cff) DNA in supernatant of compromised amniotic fluids (AF)

D. Chitayat, G. Maire, S. Madjunkova, 2014, Prenatal diagnosis.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

S. Scherer, B. Chung, C. Cytrynbaum, 2020, American journal of human genetics.

Success Rate for Culture of Fetal Postmortem Tissue Is Dependent on the Method of Pregnancy Termination

D. Chitayat, G. Ryan, R. Windrim, 2005, Fetal Diagnosis and Therapy.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Andrei L. Turinsky, S. Scherer, C. Cytrynbaum, 2019, BMC Medical Genomics.

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

Lei Zhou, B. Gelb, D. Chitayat, 1999, Human molecular genetics.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

N. Rahman, D. Gisselsson, J. Clayton-Smith, 2011, Nature Genetics.

Tetrasomy 9p Mosaicism Associated with a Normal Phenotype

D. Chitayat, F. Mcauliffe, E. Winsor, 2005, Fetal Diagnosis and Therapy.

OEIS complex: prenatal ultrasound and autopsy findings

A. Pai, D. Chitayat, A. Toi, 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

G. Mortier, D. Chitayat, A. Toi, 2007, American journal of medical genetics. Part A.

Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?

D. Chitayat, A. Teebi, E. Azouz, 1997, American journal of medical genetics.

Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma.

D. Chitayat, D. Kalousek, J. Bamforth, 1989, American journal of medical genetics.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

K. Mathews, A. Toutain, P. Shannon, 2020, Human mutation.

Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.

D. Ledbetter, D. Chitayat, A. Toi, 2000, American journal of medical genetics.

Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review

D. Chitayat, S. Cho, S. Hahm, 1987, Clinical genetics.

Mutations in EZH2 cause Weaver syndrome.

Steven J. M. Jones, Richard A. Moore, Anthony P. Fejes, 2012, American journal of human genetics.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

From VACTERL‐H to heterotaxy: Variable expressivity of ZIC3—related disorders

L. Shaffer, B. Chung, D. Chitayat, 2011, American journal of medical genetics. Part A.

Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

A. Bassett, D. Chitayat, V. Siu, 2015, American journal of medical genetics. Part A.

Parents’ Perspectives on Participating in Genetic Research in Autism

S. Scherer, C. Cytrynbaum, W. Roberts, 2013, Journal of autism and developmental disorders.

CHROMOSOMAL MICROARRAYS: THE BENEFITS AND CHALLENGES OF INTRODUCTION INTO PRENATAL DIAGNOSIS

L. Shaffer, D. Chitayat, 2010 .

VPS41 recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling

A. Fasano, A. Lozano, D. Chitayat, 2019, bioRxiv.

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).

L. Shaffer, M. Lieber, A. Gentles, 2008, Genome research.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

J. Rosenfeld, J. Lupski, R. Gibbs, 2019, American journal of human genetics.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

S. Weiss, D. Chitayat, H. Arai, 2013, Epilepsia.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Breast and ovarian cancer: Y do we forget about dad?

C. Greenwood, B. Rosen, D. Chitayat, 2010, The Lancet. Oncology.

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.

D. Chitayat, M. Nakamori, C. E. Pearson, 2011, Human molecular genetics.

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

D. Chitayat, T. van Mieghem, G. Ryan, 2019, Prenatal Diagnosis.

WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate

R. Weksberg, J. Kingdom, D. Chitayat, 2011, Epigenetics.

Placental size and the prediction of severe early‐onset intrauterine growth restriction in women with low pregnancy‐associated plasma protein‐A

N. Okun, D. Chitayat, S. Keating, 2009, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

S. Mundlos, G. Mortier, Y. Crow, 2004, American journal of human genetics.

Detection of fetal structural abnormalities with US during early pregnancy.

Fionnuala McAuliffe, D. Chitayat, L. Hornberger, 2004, Radiographics : a review publication of the Radiological Society of North America, Inc.

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly

D. Chitayat, K. Boycott, J. Majewski, 2017, Clinical genetics.

Neuroblastoma in a child with Wiedemann-Beckwith syndrome.

D. Chitayat, J. Friedman, J. Dimmick, 1990, American journal of medical genetics.

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.

D. Chitayat, J. Friedman, J. Dimmick, 1988, American journal of medical genetics.

Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

S. Scherer, J. Rosenfeld, L. Shaffer, 2013, Journal of Medical Genetics.

Diagnostic utility of microarray testing in pregnancy loss

J. Rosenfeld, B. Torchia, D. Chitayat, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell–Silver syndrome

S. Scherer, E. Zackai, R. Weksberg, 2009, American journal of medical genetics. Part A.

Maternal luteoma of pregnancy presenting with virilization of the female infant.

T. Colgan, D. Chitayat, D. Wherrett, 2007, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol.

P. Shannon, D. Chitayat, S. Keating, 2016, European journal of medical genetics.

Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin.

J. Kingdom, D. Chitayat, A. Toi, 2006, American journal of obstetrics and gynecology.

Duplication of the STS region in males is a benign copy‐number variant

L. Shaffer, D. Chitayat, L. Velsher, 2011, American journal of medical genetics. Part A.

Association between second-trimester isolated high maternal serum maternal serum human chorionic gonadotropin levels and obstetric complications in singleton and twin pregnancies.

Tianhua Huang, J. Kingdom, D. Chitayat, 2003, American journal of obstetrics and gynecology.

Regional expression of CFTR in developing human respiratory tissues.

H. O'brodovich, M. Buchwald, D. Chitayat, 1994, American journal of respiratory cell and molecular biology.

The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

D. Chitayat, D. Warburton, J. Russo, 1995, American journal of human genetics.

Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation?

D. Chitayat, H. Stalker, 1992, American journal of medical genetics.

Role of prenatal detection of cardiac tumours in the diagnosis of tuberous sclerosis—report of two cases

B. Mcgillivray, D. Chitayat, G. Sandor, 1988, Prenatal diagnosis.

Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies

D. Chitayat, D. Allingham-Hawkins, V. Cirigliano, 2011, Genetics in Medicine.

Randomized controlled trial of misoprostol for second-trimester pregnancy termination associated with fetal malformation.

T. Einarson, D. Chitayat, A. Willan, 2004, American journal of obstetrics and gynecology.

Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis

D. Chitayat, M. New, R. Babul‐Hirji, 1998, Prenatal diagnosis.

Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review.

D. Chitayat, V. Markovic, B. Chodakowski, 1996, American journal of medical genetics.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Pregnancy in 3M syndrome

D. Chitayat, M. Geary, M. Cusimano, 2018, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

D. Chitayat, M. Warman, B. Kerr, 1999, American journal of human genetics.

Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study.

D. Chitayat, R. D. Wilson, B. McGillivray, 1992, American journal of medical genetics.

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

S. Gopalani, D. Chitayat, S. Lévesque, 2014, Prenatal diagnosis.

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

D. Chitayat, B. Keena, J. Friedman, 1989, American journal of medical genetics.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

P. Calvas, N. Chassaing, D. Chitayat, 2013, American journal of human genetics.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Fetal Meconium Peritonitis – Prenatal Findings and Postnatal Outcome: A Case Series, Systematic Review, and Meta-Analysis

D. Chitayat, T. van Mieghem, A. Daneman, 2020, Ultraschall in der Medizin - European Journal of Ultrasound.

Clinical and molecular genetic features of ARC syndrome

Colin A. Johnson, E. Génin, H. Mandel, 2006, Human Genetics.

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome

R. Sougrat, H. Mandel, D. Chitayat, 2009, Human mutation.

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care

A. Laupacis, C. Earle, Y. Bombard, 2021, Genetics in Medicine.

Fetal bilateral subdural haemorrhages. Prenatal diagnosis and spontaneous resolution by time of delivery

D. Chitayat, A. Toi, M. Sgro, 1998, Prenatal diagnosis.

Reproductive Safety of Second-Generation Antipsychotics: Current Data From the Massachusetts General Hospital National Pregnancy Registry for Atypical Antipsychotics.

Molly A. Kwiatkowski, S. Hernández-Díaz, D. Chitayat, 2016, The American journal of psychiatry.

Reproductive safety of aripiprazole: data from the Massachusetts General Hospital National Pregnancy Registry for Atypical Antipsychotics

S. Hernández-Díaz, D. Chitayat, M. Freeman, 2021, Archives of Women's Mental Health.

Risk of Major Malformations in Infants Following First-Trimester Exposure to Quetiapine.

S. Hernández-Díaz, D. Chitayat, M. Freeman, 2018, The American journal of psychiatry.

Acrania: a manifestation of the Adams-Oliver syndrome.

D. Chitayat, K. Hodgkinson, M. Azouz, 1992, American journal of medical genetics.

Skull base development and craniosynostosis

D. Chitayat, S. Blaser, C. Forrest, 2015, Pediatric Radiology.

Clinical and genetic aspects of trigonocephaly: A study of 25 cases

D. Chitayat, P. Chakraborty, A. Teebi, 2002, American journal of medical genetics. Part A.

Experience with genetic counseling: the adolescent perspective

D. Chitayat, C. Shuman, M. Kaufman, 2016, Journal of Genetic Counseling.

Prenatal exposure to mycophenolate mofetil: an updated estimate.

G. Koren, C. Chambers, D. Chitayat, 2010, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Autosomal dominant Robinow syndrome

D. Chitayat, J. Mazzeu, J. Lohr, 2015, Definitions.

Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases

G. Tomlinson, D. Chitayat, A. Toi, 2015, Clinical genetics.

Fetal cardiac calcifications: report of four prenatally diagnosed cases and review of the literature

D. Chitayat, L. Hornberger, A. Toi, 2006, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Prenatal ultrasound findings of lissencephaly associated with Miller–Dieker syndrome and comparison with pre‐ and postnatal magnetic resonance imaging

D. Chitayat, A. Toi, S. Blaser, 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Diagnostic approach in prenatally detected genital abnormalities

D. Chitayat, P. Glanc, D. Chitayat, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

H. Brunner, D. Chitayat, H. Venselaar, 2015, Clinical genetics.

Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.

E. Zackai, D. Chitayat, M. Warman, 1987, The Journal of pediatrics.

Peculiar odours in newborns and maternal prenatal ingestion of spicy food

D. Chitayat, G. Hauser, L. Berns, 1985, European Journal of Pediatrics.

Cold-induced abortion in paramyotonia congenita.

D. Chitayat, R. D. Wilson, M. Etchell, 1988, American journal of obstetrics and gynecology.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome

M. Shago, D. Chitayat, P. Ruiz, 2012, American journal of medical genetics. Part A.

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome

D. Chitayat, R. Somech, A. Atkinson, 2008, American journal of medical genetics. Part A.

The sooner the better: Genetic testing following ovarian cancer diagnosis.

M. Maganti, D. Chitayat, C. Shuman, 2015, Gynecologic oncology.

Fetal cardiac dextroposition in the absence of an intrathoracic mass: sign of significant right lung hypoplasia.

J. Smallhorn, D. Chitayat, L. Hornberger, 2000, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Short‐ and long‐term outcome following thoracoamniotic shunting for fetal hydrothorax

D. Chitayat, E. Kelly, G. Ryan, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

False diagnosis of renal agenesis on fetal MRI

D. Chitayat, V. Shah, M. Sgro, 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Hemophilus influenzae Type B Pneumonia with Pneumatocele Formation

D. Chitayat, Z. Spirer, Sh. Diamant, 1980, Clinical pediatrics.

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Gloria L. Porras-Hurtado, A. Drake, D. Chitayat, 2021, Nature Communications.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

D. Chitayat, Marilyn C. Jones, G. Kletter, 2019, American journal of human genetics.

Rationale for dopa‐responsive CTNNB1/ß‐catenin deficient dystonia

D. Chitayat, I. Tein, D. Fehlings, 2018, Movement disorders : official journal of the Movement Disorder Society.

Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study.

D. Chitayat, A. Toi, F. Mcauliffe, 2005, American journal of obstetrics and gynecology.

De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome.

D. Chitayat, J. Rootman, D. Kalousek, 1989, American journal of medical genetics.

Tumor surveillance for children and adolescents with cancer predisposition syndromes: The psychosocial impact reported by adolescents and caregivers

D. Chitayat, D. Malkin, Bailey Gallinger, 2021, Pediatric blood & cancer.

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus

D. Chitayat, C. E. Pearson, J. Cleary, 2010, Nature Structural &Molecular Biology.

Hb FM‐Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing

D. Chitayat, M. Freedman, D. Chui, 1994, Human mutation.

A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT Disease

D. Chitayat, J. Vajsar, R. Babul‐Hirji, 2006, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

D. Nickerson, M. Dorschner, T. Meitinger, 2016, American journal of human genetics.

Ring chromosome 6: report of a patient and literature review.

J. Opitz, D. Chitayat, H. Nitowsky, 1987, American journal of medical genetics.

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, Brain communications.

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, medRxiv.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

S. Scherer, C. Cytrynbaum, C. Marshall, 2018, Journal of Medical Genetics.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

S. Scherer, A. C. Lionel, C. Marshall, 2017, American journal of medical genetics. Part A.

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication

D. Chitayat, D. Bägli, D. Wherrett, 2012, American journal of medical genetics. Part A.

Detection and enumeration of monocytes in human blood with peanut agglutinin.

D. Chitayat, N. Sharon, E. Tzehoval, 1985, Journal of immunological methods.

Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping review

Beverly R Young, S. Lapinsky, C. Silversides, 2022, BMC Pregnancy and Childbirth.

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1

D. Chitayat, R. Jobling, M. Axford, 2019, American journal of medical genetics. Part A.

Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.

D. Chitayat, M. Vekemans, F. Halal, 1991, American journal of medical genetics.

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

Jeremy L. Praissman, S. Nelson, D. Stemple, 2016, eLife.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

W. Halliday, K. Buysse, D. Stemple, 2013, Human molecular genetics.

Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome

D. Chitayat, C. Roifman, 2009, Clinical genetics.

Fetal myelomeningocele surgery: Only treating the tip of the iceberg

J. Drake, P. Shannon, D. Chitayat, 2018, Prenatal diagnosis.

Decreased numbers of dense granules in fetal and neonatal platelets

D. Chitayat, V. Blanchette, P. Shah, 2017, Haematologica.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

P. Shannon, D. Chitayat, S. Saunier, 2019, Human molecular genetics.

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ( )

P. Shannon, D. Chitayat, R. Schnur, 2018, American journal of medical genetics. Part A.

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

D. Chitayat, S. Blaser, A. Al-Maawali, 2013, American journal of medical genetics. Part A.

TSEN54 mutations cause pontocerebellar hypoplasia type 5

F. Ruissen, F. Baas, D. Chitayat, 2011, European Journal of Human Genetics.

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

K. Lyons, D. Chitayat, C. Curry, 2012, American journal of human genetics.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlation

D. Chitayat, A. Toi, S. Blaser, 2008, Pediatric Radiology.

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray

N. Okun, D. Chitayat, C. Shuman, 2018, Journal of Genetic Counseling.

Prolonged duration of persistent cell‐free fetal DNA from vanishing twin

D. Chitayat, K. Niles, A. Murji, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Fetal hepatic calcifications: prenatal diagnosis and outcome.

M. Bona, D. Chitayat, A. Toi, 2001, American journal of obstetrics and gynecology.

Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9.

D. Chitayat, K. Hodgkinson, D. Kalousek, 1995, American journal of medical genetics.

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

D. Chitayat, Hadeel Alrukban, 2018, The application of clinical genetics.

Meconium peritonitis: the role of postnatal radiographic and sonographic findings in predicting the need for surgery

D. Chitayat, A. Daneman, P. Caro-Domínguez, 2018, Pediatric Radiology.

Prenatal diagnosis of asplenia/polysplenia syndrome.

M. Hayden, D. Chitayat, R. D. Wilson, 1988, American journal of obstetrics and gynecology.

Abnormalities of the intra‐abdominal fetal umbilical vein: reports of four cases and a review of the literature

D. Chitayat, A. Toi, L. Moore, 1996, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?

D. Chitayat, H. Stalker, E. Azouz, 1992, American journal of medical genetics.

The cycle of genome-directed medicine

S. Scherer, A. Carson, R. Weksberg, 2009, Genome Medicine.

Familial ileal perforation: prenatal diagnosis and postnatal follow‐up

C. Cytrynbaum, D. Chitayat, A. Toi, 1998, Prenatal diagnosis.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

G. Fishman, J. Duncan, D. Chitayat, 2010, Journal of Medical Genetics.

Prenatal screening for fetal aneuploidy.

D. Chitayat, S. Langlois, V. Désilets, 2017, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia

Sophie J Deharvengt, C. Marshall, D. Chitayat, 2015, Cellular and molecular gastroenterology and hepatology.

Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome.

Timothy J. Nelson, Sean M. Wu, D. Chitayat, 2020, Cell stem cell.

Single-Cell RNA-Seq Reveals Endocardial Defect in Hypoplastic Left Heart Syndrome

Timothy J. Nelson, Sean M. Wu, D. Chitayat, 2019 .

Prenatal diagnosis of Apert syndrome: report of two cases

D. Chitayat, A. Toi, L. Steele, 2003, Prenatal diagnosis.

Pregnancy outcome post renal transplantation.

G. Koren, D. Chitayat, H. Mirghani, 2002, Teratology.

Interstitial deletion of 11q‐implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome

D. Chitayat, S. Chénier, D. Stavropoulos, 2012, American journal of medical genetics. Part A.

Warsaw breakage syndrome: Further clinical and genetic delineation

B. Papsin, F. Alkuraya, D. Chitayat, 2018, American journal of medical genetics. Part A.

Looking past the lump: genetic aspects of inguinal hernia in children.

D. Chitayat, C. Barnett, J. Langer, 2009, Journal of pediatric surgery.

Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence

M. Tarnopolsky, D. Chitayat, A. Toi, 2009, Fetal Diagnosis and Therapy.

Co‐occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy

B. Chung, I. Glass, D. Chitayat, 2010, American journal of medical genetics. Part A.

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

B. Fernandez, D. Chitayat, D. Allingham-Hawkins, 1999, American journal of medical genetics.

Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.

D. Chitayat, R. Appleton, J. Hall, 1989, Archives of neurology.

Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis.

D. Chitayat, S. Langlois, D. Kalousek, 1988, American journal of medical genetics.

Intrafamilial variability in cleidocranial dysplasia: a three generation family.

D. Chitayat, K. Hodgkinson, E. Azouz, 1992, American journal of medical genetics.

Robin sequence with facial and digital anomalies in two half-brothers by the same mother.

D. Chitayat, K. Hodgkinson, M. Azouz, 1991, American journal of medical genetics.

Genetic homogeneity of cartilage-hair hypoplasia

John B. Campbell, D. Sillence, A. Chapelle, 1995, Human Genetics.

Severe classical congenital muscular dystrophy and merosin expression

V. Jay, D. Chitayat, L. Becker, 1998, Clinical genetics.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers

D. Chitayat, Mathieu Lemaire, C. Licht, 2019, Pediatric Nephrology.

Familial growth hormone deficiency associated with MRI abnormalities.

L. Cohen, D. Chitayat, S. Blaser, 1998, American journal of medical genetics.

Long‐term postnatal outcome of fetuses with prenatally suspected septo‐optic dysplasia

Steven P. Miller, V. Chau, P. Shannon, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis

D. Chitayat, E. Winsor, L. Steele, 2010, Prenatal diagnosis.

Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the SOX18 gene

M. Vikkula, D. Chitayat, E. Legius, 2015, Clinical genetics.

Diffusion-Weighted Imaging of the Cerebellum in the Fetus with Chiari II Malformation

P. Shannon, D. Chitayat, C. Raybaud, 2013, American Journal of Neuroradiology.

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

S. Scherer, C. Marshall, C. Fahey, 2011, Journal of Medical Genetics.

A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome.

D. Chitayat, M. Chopra, Jialiang Zhu, 2016, Clinical dysmorphology.

Codeine and breastfeeding – Authors' reply

G. Koren, D. Chitayat, P. Madadi, 2008, The Lancet.

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features

J. Rosenfeld, L. Shaffer, D. Chitayat, 2010, American journal of medical genetics. Part A.

Male sex bias in placental dysfunction

R. Weksberg, A. Paterson, J. Kingdom, 2012, American journal of medical genetics. Part A.

Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20.

B. Rosenblatt, D. Chitayat, M. Vekemans, 1992, American journal of medical genetics.

Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome?

D. Chitayat, S. Webber, D. Wargowski, 1990, American journal of medical genetics.

Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.

D. Chitayat, M. Vekemans, H. Stalker, 1993, American journal of medical genetics.

Risk estimates for complex disorders: comparing personal genome testing and family history

S. Pu, S. Wodak, D. Chitayat, 2013, Genetics in Medicine.

Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.

D. Chitayat, C. Shuman, I. Cohn, 2019, Pharmacogenomics.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.

D. Chitayat, M. Vekemans, J. Posnick, 1995, American journal of medical genetics.

X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum

A. Ballabio, R. Winter, D. Chitayat, 2003, American journal of medical genetics. Part A.

Expression of cystic fibrosis transmembrane conductance regulator during early human embryo development.

D. Chitayat, R. Casper, J. Foskett, 2002, Molecular human reproduction.

Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia

D. Chitayat, C. Shuman, A. Toi, 2016, American journal of medical genetics. Part A.

No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.

D. Chitayat, S. Langlois, R. D. Wilson, 2017, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large Canadian urban center

Tianhua Huang, B. Hoffman, N. Okun, 2008, Prenatal diagnosis.

Personality Traits Associated with Genetic Counselor Compassion Fatigue: The Roles of Dispositional Optimism and Locus of Control

D. Chitayat, C. Shuman, E. Atenafu, 2011, Journal of Genetic Counseling.

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest

C. Hawkins, P. Shannon, D. Chitayat, 2018, Metabolic Brain Disease.

Spectrophotometry of Amniotic Fluid: A Simple and Rapid Method for Distinguishing Between Gestational Sacs in Second‐Trimester Amniocentesis of Twin Pregnancies

D. Chitayat, G. Ohel, R. Marion, 1995, Obstetrics and gynecology.

Genetic counselling for infertile men of known and unknown etiology

D. Chitayat, R. Babul‐Hirji, Ruqayya Hirji, 2020, Translational andrology and urology.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

S. Scherer, C. Cytrynbaum, R. Weksberg, 2019, BMC Medical Genomics.

Nicotine and cotinine in maternal and neonatal hair as markers of gestational smoking.

G. Koren, D. Chitayat, J. Klein, 1996, Clinical and investigative medicine. Medecine clinique et experimentale.

Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: A systematic review

J. Kingdom, D. Chitayat, A. Toi, 2005 .

Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin‐1 gene

C. Hawkins, D. Chitayat, C. Barnett, 2010, American journal of medical genetics. Part A.

Computed Tomography of the Brain in the Smith-Lemli-Opitz Syndrome

D. Chitayat, G. Lantos, R. Marion, 1987, Journal of child neurology.

Smith-Lemli-Opitz syndrome : carrier frequency and spectrum of DHCR 7 mutations in Canada

D. Chitayat, J. Waye, T. Costa, 2002 .

Dyssegmental dysplasia, Silverman‐Handmaker type: prenatal ultrasound findings and molecular analysis

D. Chitayat, A. Toi, S. Keating, 2013, Prenatal diagnosis.

Midfacial hypoplasia associated with long-term intubation for bronchopulmonary dysplasia.

D. Chitayat, A. Rotschild, A. Solimano, 1990, American journal of diseases of children.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

KMT2D-NOTCH Mediates Coronary Abnormalities in Hypoplastic Left Heart Syndrome

M. Snyder, D. Chitayat, M. Guo, 2022, bioRxiv.

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

D. Chitayat, T. Roscioli, Futao Zhang, 2023, American journal of medical genetics. Part A.

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

M. Simpson, D. Chitayat, M. Irving, 2016, American journal of medical genetics. Part A.

Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

P. Shannon, D. Chitayat, K. Gilmore, 2023, American journal of medical genetics. Part A.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

S. Scherer, C. Marshall, S. Wodak, 2018, Genetics in Medicine.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

D. Chitayat, N. Matsumoto, Hironori Ito, 2013, American journal of human genetics.

The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort

D. Chitayat, H. Faghfoury, Roberto Mendoza, 2021, American journal of medical genetics. Part A.

Fetal forehead hemangiopericytoma: prenatal diagnosis and postnatal outcome

D. Chitayat, A. Toi, C. Forrest, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex

J. Smallhorn, D. Chitayat, L. Hornberger, 2003 .

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias

D. Chitayat, A. Superti-Furga, M. le Merrer, 2001, Pediatric Radiology.

Otocephaly: prenatal sonographic diagnosis.

D. Chitayat, A. Toi, T. Barozzino, 1998, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Prenatal detection of microtia by MRI in a fetus with trisomy 22

W. Halliday, D. Chitayat, A. Toi, 2006, Pediatric Radiology.

Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion

J. Smallhorn, D. Chitayat, L. Hornberger, 2003, Prenatal diagnosis.

Elevation of serum β-hexosaminidase and α-d-mannosidase in type 2 gaucher disease: a clinical and biochemical study

D. Chitayat, J. Llena, H. Nitowsky, 1987, Journal of Inherited Metabolic Disease.

Elevation of serum beta-hexosaminidase and alpha-D-mannosidase in type 2 Gaucher disease: a clinical and biochemical study.

D. Chitayat, J. Llena, H. Nitowsky, 1987, Journal of inherited metabolic disease.

DANDY-WALKER MALFORMATION SYNDROMES : REPLY TO FIUMARA ET AL.

D. Chitayat, 1996 .

Rhombencephalosynapsis: prenatal imaging and autopsy findings

W. Halliday, P. Shannon, D. Chitayat, 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

W. Halliday, B. Banwell, D. Chitayat, 2016, Neuroradiology.

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series

D. Chitayat, A. Dufke, A. Jelin, 2022, Prenatal diagnosis.

Exploring barriers and facilitators to indirect cascade screening for familial hypercholesteremia in a pediatric/parent population

B. McCrindle, D. Chitayat, S. Hewson, 2023, CJC Pediatric and Congenital Heart Disease.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

D. Horn, H. Hennies, D. Chitayat, 2005, Journal of Medical Genetics.

Canavan disease: Carrier‐frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay

D. Chitayat, P. Ray, A. Feigenbaum, 2004, American journal of medical genetics. Part A.

Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings

D. Chitayat, K. Chong, N. Quercia, 2007, American journal of medical genetics. Part A.

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

P. McNamara, H. Whyte, D. Chitayat, 2006, Clinical dysmorphology.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

M. M. Morrow, M. Shinawi, D. Chitayat, 2021, Pediatric neurology.

Examining risk perception among men with a family history of prostate cancer.

J. Trachtenberg, S. Horsburgh, A. Finelli, 2011, Patient education and counseling.

X‐Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings

D. Chitayat, K. Fong, S. Keating, 2006, Prenatal diagnosis.

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders

F. Muntoni, D. Chitayat, C. Robson, 2020, American Journal of Neuroradiology.

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

D. Chitayat, P. Ray, S. Blaser, 2013, Pediatric neurology.

Pancreatic β-Cell–Specific Deletion of VPS41 Causes Diabetes Due to Defects in Insulin Secretion

D. Chitayat, J. Fitzpatrick, J. Klumperman, 2020, Diabetes.

The Relationship Between Burnout and Occupational Stress in Genetic Counselors

D. Chitayat, C. Shuman, Derek Stephens, 2016, Journal of Genetic Counseling.

Warfarin Embryopathy Following Low-Dose Maternal Exposure

G. Koren, D. Chitayat, A. Toi, 2005 .

An Autophagic Vacuolar Myopathy-Like Disorder Presenting as Nonimmune Hydrops in a Female Fetus

D. Chitayat, A. Superti-Furga, S. Keating, 2009, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read

D. Lev, D. Chitayat, N. Matsumoto, 2014 .

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

M. Hayden, J. Kastelein, D. Chitayat, 1994, Human mutation.

BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

S. Jacobson, G. Fishman, J. Duncan, 2011, Human mutation.

The Genetics of Facial Cleft

D. Chitayat, S. Blaser, A. Koifman, 2017 .

Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome.

B. Chung, B. Fernandez, D. Chitayat, 2012, Clinical dysmorphology.

Branchio-oto-renal syndrome : further delineation of an underdiagnosed syndrome

D. Chitayat, I. Sando, K. Hodgkinson, 1992 .

Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases

D. Chitayat, S. Keating, G. Ryan, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

VALPROIC ACID EMBRYOPATHY

D. Chitayat, K. Farrell, J. Hall, 1987, Pediatric Research.

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants

W. Ji, P. Shannon, D. Chitayat, 2022, American journal of medical genetics. Part A.

Fetal Sex Assignment by Sonographic Evaluation of the Pelvic Organs in the Second and Third Trimesters of Pregnancy

G. Tomlinson, D. Chitayat, P. Glanc, 2007, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Motherisk rounds. Warfarin embryopathy following low-dose maternal exposure.

G. Koren, D. Chitayat, A. Toi, 2005, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome?

D. Chitayat, H. Stalker, F. Halal, 1993, American journal of medical genetics.

Abnormal Differentiation and Proliferation of Coronary Arterial Endothelium in Hypoplastic Left Heart Syndrome

M. Snyder, Sean M. Wu, D. Chitayat, 2021 .

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2018, Genetics in Medicine.

Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22)

D. Chitayat, H. Gardner, E. Winsor, 1999, Clinical Genetics.

The ontogeny of P-glycoprotein in the developing human blood–brain barrier: implication for opioid toxicity in neonates

P. Shannon, D. Chitayat, J. Lam, 2015, Pediatric Research.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Heart transplantation in neonatal Marfan syndrome: Saving life in a rare and fatal condition

D. Chitayat, A. Dipchand, L. Grosse-Wortmann, 2023, Pediatric transplantation.

Diagnostic utility of microarray testing in pregnancy loss

J. Rosenfeld, B. Torchia, D. Chitayat, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life.

D. Chitayat, R. Weber, E. Jaeggi, 2014, JACC. Heart failure.

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

C. Schwartz, S. Ito, V. Emiliani, 2019, The Journal of clinical investigation.

Hypospadias in males with intrauterine growth restriction due to placental insufficiency: The placental role in the embryogenesis of male external genitalia

J. Kingdom, D. Chitayat, D. Wherrett, 2010, American journal of medical genetics. Part A.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

Mapping the cellular origin and early evolution of leukemia in Down syndrome

J. Dick, E. Lechman, L. Salmena, 2021, Science.

Carrier screening for thalassemia and hemoglobinopathies in Canada.

D. Chitayat, S. Langlois, J. Ford, 2008, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Newborn with bilateral congenital cataracts: Never forget congenital rubella syndrome.

D. Chitayat, K. Mireskandari, J. Wong, 2019, Paediatrics & child health.

Brain abnormalities in patients with Beckwith–Wiedemann syndrome

R. Weksberg, S. Pu, S. Wodak, 2012, American journal of medical genetics. Part A.

Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.

R. Weksberg, D. Chitayat, S. Langlois, 1996, Journal of medical genetics.

QF‐PCR rapid aneuploidy screen and aCGH analysis of cell free fetal (cff) DNA in supernatant of compromised amniotic fluids (AF)

D. Chitayat, G. Maire, S. Madjunkova, 2014, Prenatal diagnosis.

E. Zackai, J. Kingdom, D. Chitayat, 2008, American journal of medical genetics. Part A.

Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants

P. Shannon, D. Chitayat, S. Blaser, 2020, American journal of medical genetics. Part A.

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

D. Chitayat, R. Babul‐Hirji, Resham Ejaz, 2016, Clinical case reports.

Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome?

R. Weksberg, D. Chitayat, P. Shah, 2006, American journal of medical genetics. Part A.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

B. V. van Bon, R. Pfundt, H. Brunner, 2023, Journal of medical genetics.

Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy

D. Chitayat, V. Shah, K. Chong, 2020, American Journal of Perinatology Reports.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

The Application of Clinical Genetics Dovepress Alagille Syndrome: Clinical Perspectives

D. Chitayat, B. Kamath, M. Saleh, 2022 .