M. Geraghty

发表

Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions

A. Christiano, A. Martinez-Mir, H. Lam, 2005, Clinical and experimental dermatology.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Jacek Majewski, Olga Jarinova, Dennis E. Bulman, 2016, Canadian Medical Association Journal.

Identification of Peroxisomal Acyl-CoA Thioesterases in Yeast and Humans*

S. Gould, M. Geraghty, R. Erdmann, 1999, The Journal of Biological Chemistry.

The isolation of cDNAs from OATL1 at Xp 11.2 using a 480-kb YAC.

A. Monaco, D. Valle, H. Lehrach, 1993, Genomics.

Clinical , biochemical , and genetic features of four patients with short-chain enoyl-CoA hydratase ( ECHS 1 ) deficiency

Reilly, Robert W. Taylor, S. Ferdinandusse, 2018 .

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Robert W. Taylor, S. Ferdinandusse, H. Waterham, 2018, American journal of medical genetics. Part A.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

John J. Mitchell, J. Little, K. Wilson, 2020, Orphanet Journal of Rare Diseases.

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma‐specific t(X;18)(p11.2;q11.2) breakpoint

A. Monaco, D. Valle, H. Lehrach, 1993, Genes, chromosomes & cancer.

Sublocalization of the synovial sarcoma-associated t(X;18) chromosomal breakpoint in Xp11.2 using cosmid cloning and fluorescence in situ hybridization.

R. Sinke, A. Sandberg, M. Geraghty, 1993, Oncogene.

Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

V. Praphanphoj, M. Dixon, C. Toomes, 2000, Genomics.

Molecular Characterization of Saccharomyces cerevisiae Δ3,Δ2-Enoyl-CoA Isomerase*

B. Geisbrecht, S. Gould, M. Geraghty, 1998, The Journal of Biological Chemistry.

Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2.

A. Monaco, R. Sinke, A. Sandberg, 1993, Cancer genetics and cytogenetics.

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm.

H. Willard, D. Valle, T. Shows, 1991, Genomics.

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit

K. Boycott, K. Kernohan, T. Hartley, 2018, American journal of medical genetics. Part A.

Phenylketonuria in adulthood: A collaborative study

B. Burton, R. Koch, F. Guttler, 2002, Journal of Inherited Metabolic Disease.

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

J. Little, K. Wilson, M. Tarnopolsky, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

N. Longo, C. V. van Karnebeek, B. Maranda, 2014, Molecular genetics and metabolism.

Discrepant DNA analysis in three patients with inherited arrhythmia: Molecular genetic test results deserve a second glance

M. Gollob, M. Geraghty, J. Rutberg, 2008, American journal of medical genetics. Part A.

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

John J. Mitchell, J. Little, K. Wilson, 2012, Genetics in Medicine.

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.

V. McKusick, R. Parsons, D. Liaw, 1997, American journal of medical genetics.

Preliminary characterization of Yor180Cp: identification of a novel peroxisomal protein of saccharomyces cerevisiae involved in fatty acid metabolism.

B. Geisbrecht, S. Gould, M. Geraghty, 1999, Biochemical and biophysical research communications.

Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency

R. Wanders, M. Heiner-Fokkema, T. Derks, 2021, Journal of inherited metabolic disease.

Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry.

P. Chakraborty, C. McRoberts, O. Al-Dirbashi, 2014, JIMD reports.

A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening

M. Geraghty, D. Watkins, D. Rosenblatt, 2013, Pediatrics.

Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene.

V. Praphanphoj, S. Gould, M. Geraghty, 2001, Molecular genetics and metabolism.

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

S. Ferdinandusse, R. Wanders, K. Boycott, 2012, Orphanet Journal of Rare Diseases.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

M. Tarnopolsky, K. Boycott, B. Kamien, 2017, Orphanet Journal of Rare Diseases.

Paternal isodisomy of chromosome 2 as a cause of long chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency

P. Ray, M. Geraghty, B. Baskin, 2010, American journal of medical genetics. Part A.

Molecular autopsy in the sudden cardiac death of a young woman: a first Canadian report.

M. Gollob, D. Birnie, J. Ewen, 2007, The Canadian journal of cardiology.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

T. Crawford, P. Grant, E. Jabs, 2013, Brain : a journal of neurology.

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay

P. Hogarth, S. Venkateswaran, M. Geraghty, 2015, Pediatrics.

Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint.

D. Weghuis, R. Seruca, H. Ropers, 1994, Human molecular genetics.

Direct Health Care Costs, Health Services Utilization and Outcomes of Biliary Atresia: A Population-Based Cohort Study.

E. Benchimol, V. Ng, M. Geraghty, 2019, Journal of pediatric gastroenterology and nutrition.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ Report of seven new subjects and review of the literature

Undiagnosed Diseases Network, E. Eklund, Manuela Pendziwiat, 2020 .

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

S. Dimauro, H. Mountain, H. Dahl, 1999, Journal of Inherited Metabolic Disease.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

Phillip A. Richmond, S. Scherer, R. Yuen, 2019, The New England journal of medicine.

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

F. Bamforth, P. Chakraborty, J. Callahan, 2007, Molecular genetics and metabolism.

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

E. Jabs, N. Flanagan, M. Geraghty, 1998, Journal of medical genetics.

Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case finding.

L. Platt, M. Geraghty, W. Rhead, 1999, American journal of obstetrics and gynecology.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

S. Ferdinandusse, K. Boycott, J. Fletcher, 2022, Human molecular genetics.

Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.

A. Moser, K. Smith, S. Zheng, 1998, Human molecular genetics.

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

R. Hegele, P. Ray, D. Grynspan, 2014, JIMD reports.

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

P. Fernhoff, A. C. Chinault, S. Cederbaum, 2009, Molecular genetics and metabolism.

A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.

M. Lawson, M. Geraghty, M. Ebrahim, 2014, Diabetes & metabolism.

Tandem mass spectrometric determination of purine metabolites and adenosine deaminase activity for newborn screening of ADA–SCID

D. Bulman, P. Chakraborty, C. McRoberts, 2015 .

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Ankita Patel, M. Geraghty, C. Jakobs, 2002, Molecular Genetics and Metabolism.

Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone

P. Chakraborty, D. Wherrett, P. Gallego, 2016, BMC Pediatrics.

COL4A1 Mutation in a Pediatric Patient Presenting with Post-Ictal Hemiparesis

E. Sell, E. Miller, M. Geraghty, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).

X. Chen, J. Korenberg, M. Geraghty, 2000, American journal of medical genetics.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Maria D. Karaceper, P. Chakraborty, O. Al-Dirbashi, 2015, Molecular genetics and metabolism.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

S. Ellard, D. Hunter, E. Engle, 2007, BMC Genetics.

X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes

J. Pevsner, P. Watkins, L. Braiterman, 2004, Neurochemical Research.

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

M. Fleming, P. Chakraborty, R. Klaassen, 2013, Blood.

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Erin K. Kennedy, M. Fleming, Ashley Lau, 2014, Blood.

Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.

R P Cox, B. Geisbrecht, S. Gould, 2000, American journal of human genetics.

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

K. Boycott, K. Kernohan, M. Tétreault, 2015, Human molecular genetics.

Detecting patterns of protein distribution and gene expression in silico.

P. Hieter, D. Bassett, B. Geisbrecht, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

J. Rosenfeld, D. Merico, A. C. Lionel, 2013 .

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

B. Fernandez, B. Knoppers, K. Boycott, 2015, Journal of Medical Genetics.

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

E. Jabs, M. Geraghty, J. Rutberg, 1999, American journal of medical genetics.

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

L. Shaffer, M. Leppert, S. Gagos, 1998, American journal of medical genetics.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

M. Tarnopolsky, B. Brais, O. Suchowersky, 2020, Movement disorders clinical practice.

Linkage analysis of X linked retinitis pigmentosa in the Irish population.

D. McConnell, P. Humphries, M. Geraghty, 1988, Journal of Medical Genetics.

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

J. Vockley, S. Wortmann, T. Derks, 2020, Genetics in Medicine.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls.

B. Cohen, M. Geraghty, Richard L. Violand, 2002, The Journal of pediatrics.

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

R. Weksberg, C. Stevens, J. Squire, 2001, American journal of medical genetics.

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

M. Grotewiel, V. Sutton, A. El-Hattab, 2017, Molecular genetics and metabolism.

Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.

C. Obie, D. Valle, G. Jiménez-Sánchez, 1998, Human molecular genetics.

Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15).

R. Stallings, M. Geraghty, C. Joyce, 1997, Journal of medical genetics.

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome

A. Pulver, M. Geraghty, J. Rutberg, 2000, Journal of Inherited Metabolic Disease.

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria.

D. Valle, W. Green, E. Traboulsi, 1992, American journal of ophthalmology.

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)

M. Geraghty, A. Doja, M. Vassilyadi, 2018, Tremor and Other Hyperkinetic Movements.

Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care

K. Boycott, Ruobing Zou, K. Kernohan, 2016, Molecular genetics & genomic medicine.

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

T. Meitinger, Mohan L Gupta, D. Hunter, 2010, Cell.

immunodeficiency, periodic fevers, and developmental delay (SIFD) A novel syndrome of congenital sideroblastic anemia, B-cell

M. Fleming, P. Chakraborty, R. Klaassen, 2013 .

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

K. Boycott, D. Bulman, C. Beaulieu, 2015, Journal of child neurology.

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

D. Labuda, A. Pshezhetsky, R. Giugliani, 2019, Human mutation.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

F. Alkuraya, M. Tarailo-Graovac, C. V. van Karnebeek, 2016, Molecular genetics and metabolism.

Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.

G. Moore, M. Geraghty, T. Kovesi, 2014, American journal of respiratory and critical care medicine.

Familial craniosynostosis , analanomalies, and porokeratosis: CAPsyndrome

E. Jabs, N. Flanagan, M. Geraghty, 1998 .

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

K. Boycott, D. Bulman, C. Beaulieu, 2014, BMC Medical Genetics.

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

A. C. Chinault, A. Chinault, D. Dimmock, 2008, Clinical chemistry.

Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

R. Hegele, A. McIntyre, Julien L. Marcadier, 2015, Canadian Medical Association Journal.

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

H. Dietz, B. Gelb, R. Montgomery, 1998, American journal of human genetics.

Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

D. J. Driscoll, Kelly L. Adams, J. Rosenfeld, 2016, American journal of medical genetics. Part A.

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

D. Valle, M. Marble, J. Kraus, 1994, Human molecular genetics.

Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency.

M. Pomper, N. Braverman, M. Geraghty, 2002, American journal of medical genetics.

A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns[S]

S. Purkayastha, R. Steiner, M. Geraghty, 2014, Journal of Lipid Research.

Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis

Godfrey D Pearlson, Walter E Kaufmann, G. Pearlson, 2001, Biological Psychiatry.

Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.

P. Chakraborty, C. McRoberts, O. Al-Dirbashi, 2010, Clinical biochemistry.

Genetic and Clinical Heterogeneity in eIF2B-Related Disorder

H. Morizono, A. Vanderver, E. Hoffman, 2008, Journal of child neurology.

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

P. Chakraborty, O. Al-Dirbashi, L. Fisher, 2011, Journal of Inherited Metabolic Disease.

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

S. Scherer, J. Rosenfeld, L. Shaffer, 2012, Archives of General Psychiatry.

Cobalamin C defect associated with hemolytic-uremic syndrome.

D. Valle, E. Perlman, M. Geraghty, 1992, The Journal of pediatrics.

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies

L. Boccuto, M. Geraghty, R. Reichard, 2011, American journal of medical genetics. Part A.

Tubulointerstitial nephritis in methylmalonic acidemia

M. Geraghty, D. Rosenblatt, S. Rutledge, 1993, Pediatric Nephrology.

Molecular characterization of Saccharomyces cerevisiae Delta3, Delta2-enoyl-CoA isomerase.

B. Geisbrecht, S. Gould, D. Zhu, 1998, The Journal of biological chemistry.

Severe Neutropenia and Anemia in a Child With Epilepsy and Copper Deficiency on a Ketogenic Diet.

R. Klaassen, E. Donner, M. Geraghty, 2017, Pediatric neurology.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Rebecca C. Spillmann, Undiagnosed Diseases Network, E. Eklund, 2020, Journal of inherited metabolic disease.

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

Thomas M. Kitzler, P. Waters, Y. Trakadis, 2018, JIMD reports.

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

P. Chakraborty, N. Sondheimer, M. Geraghty, 2021, European Journal of Human Genetics.

The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia

A. Hamosh, V. Praphanphoj, N. Braverman, 2003, Journal of Inherited Metabolic Disease.

Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia

S. Brusilow, V. Praphanphoj, L. Waber, 2000, Journal of Inherited Metabolic Disease.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

John J. Mitchell, E. Shoubridge, H. Antonicka, 2015, Human Genetics.

Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.

W. Green, M. Geraghty, N. Hayashi, 2000, Ophthalmology.

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

John J. Mitchell, L. Korngut, M. Taljaard, 2020, Orphanet Journal of Rare Diseases.

Very late‐onset Sandhoff disease presenting as Kennedy Disease

K. Boycott, M. Geraghty, P. Bourque, 2015, Muscle & nerve.

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

K. Wilson, P. Chakraborty, B. Potter, 2010, BMC pediatrics.

A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria

M. Hodes, M. Geraghty, S. Naidu, 1997, Journal of Inherited Metabolic Disease.

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria

John J. Mitchell, L. Korngut, M. Taljaard, 2021, Pediatrics.

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.

Use of factor IX intragenic recombinant DNA probes for evaluation of carrier status in haemophilia B families of Irish Origin

P. Humphries, M. Geraghty, I. Temperley, 1986, Irish journal of medical science.

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit

R. Hegele, A. Lehman, D. Dyment, 2023, Pediatric pulmonology.

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

D. Bulman, P. Chakraborty, A. Lamhonwah, 2019, Molecular genetics and metabolism.

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome.

H. Calkins, M. Geraghty, I. Maumenee, 1999, The Journal of pediatrics.

Developing a National Newborn Screening Strategy for Canada

K. Wilson, P. Chakraborty, B. Potter, 2010 .

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent.

S. Langlois, V. Désilets, A. Summers, 2006, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

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.

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

D. Bulman, C. Beaulieu, J. Majewski, 2016, JIMD reports.

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

A. Chinault, D. Dimmock, F. Scaglia, 2008, Clinical chemistry.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening

M. Geraghty, D. Watkins, D. Rosenblatt, 2013, Pediatrics.

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

S. Ferdinandusse, K. Boycott, D. Bulman, 2013, Orphanet Journal of Rare Diseases.