O. Caluseriu

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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.

NSD1 mutations generate a genome-wide DNA methylation signature

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

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

T. Wieland, T. Strom, D. Wieczorek, 2017, Human Genetics.

Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome

O. Caluseriu, A. M. Denny, F. Bolduc, 2016, Neurology: Genetics.

Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras

L. Hornberger, O. Caluseriu, S. Urschel, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Clinical features of 78 adults with 22q11 deletion syndrome

R. Weksberg, J. Husted, A. Bassett, 2005, American journal of medical genetics. Part A.

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing

P. Metcalfe, O. Caluseriu, E. Rosolowsky, 2016, International Journal of Pediatric Endocrinology.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

G. Bejerano, S. Mehta, R. Hevner, 2017, Brain : a journal of neurology.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

R. Weksberg, J. Squire, P. Ray, 2002, Journal of the American Society of Nephrology : JASN.

Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

D. Eisenstat, C. Sergi, O. Caluseriu, 2017, Pediatric Research.

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

S. Langlois, K. Boycott, T. Hartley, 2021, Journal of Medical Genetics.

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015, Human molecular genetics.

brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015 .

Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies.

F. Bernier, O. Caluseriu, J. Lazier, 2016, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Prenatal features, associated co‐morbidities and clinical course of agenesis of the ductus venosus in the current era

L. Hornberger, O. Caluseriu, K. Niederhoffer, 2020, Prenatal diagnosis.

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Marni J. Falk, H. Hakonarson, C. Walsh, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes

L. Hornberger, O. Caluseriu, L. Eckersley, 2021, Prenatal diagnosis.

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics

O. Caluseriu, A. Chan, S. Mercimek-Andrews, 2022, American journal of medical genetics. Part A.

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

O. Caluseriu, J. Lazier, K. Niederhoffer, 2022, Genes.

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

J. Kurtzberg, N. Delanty, C. Wolf, 2022, American journal of medical genetics. Part A.

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

R. Weksberg, J. Squire, P. Ray, 2001, Human molecular genetics.

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.

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

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

EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

S. Scherer, C. Cytrynbaum, R. Weksberg, 2020 .

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.

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Andrei L. Turinsky, S. Scherer, C. Cytrynbaum, 2019, Clinical Epigenetics.

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

S. D. Fraser, F. Bernier, A. Innes, 2020, bioRxiv.

Hnrnpul1 loss of function affects skeletal and limb development

S. D. Fraser, P. Gordon, F. Bernier, 2020 .

Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature

J. Jaremko, O. Caluseriu, M. Jetha, 2022, Bone reports.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

J. Rosenfeld, P. Stankiewicz, A. Breman, 2018, Cell.

Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome

R. Weksberg, A. Bassett, E. Chow, 2007, Biological Psychiatry.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

D. Valle, N. Sobreira, J. Majewski, 2015, Human mutation.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Jay Shendure, Michael J Bamshad, Deborah A Nickerson, 2012, American journal of human genetics.

K. Boycott, F. Bernier, A. Innes, 2018, American journal of medical genetics. Part A.

Schizophrenia in an adult with 6p25 deletion syndrome

G. Mirza, J. Ragoussis, A. Bassett, 2006, American journal of medical genetics. Part A.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation

I. MacDonald, O. Caluseriu, Lance P Doucette, 2021, European Journal of Human Genetics.

The hutterite variant of treacher collins syndrome: A 28‐year‐old story solved

F. Bernier, A. Innes, J. Parboosingh, 2013, American journal of medical genetics. Part A.

The interaction of the severe acute respiratory syndrome coronavirus 2 spike protein with drug-inhibited angiotensin converting enzyme 2 studied by molecular dynamics simulation

O. Caluseriu, B. Nami, N. Nami, 2021, Journal of hypertension.

Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer

A. Viel, M. Genuardi, E. Lucci-Cordisco, 2004, Familial Cancer.

Systemic Delivery of Morpholinos to Skip Multiple Exons in a Dog Model of Duchenne Muscular Dystrophy.

S. Takeda, Y. Aoki, O. Caluseriu, 2017, Methods in molecular biology.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

O. Caluseriu, J. Chernos, D. R. Mcleod, 2021, Clinical dysmorphology.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

A. Viel, M. Genuardi, O. Caluseriu, 2001, Human mutation.

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.

T. Boggon, R. Lifton, P. Kruszka, 2023, American journal of human genetics.

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability

T. Colibazzi, A. Viel, E. Lucci-Cordisco, 2004, Journal of Medical Genetics.

Extra‐cardiac diagnoses and postnatal outcomes of fetal tetralogy of fallot

L. Hornberger, O. Caluseriu, L. Eckersley, 2022, Prenatal diagnosis.

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

S. Scherer, C. Cytrynbaum, R. Weksberg, 2019, Clinical Epigenetics.

X-linked hypophosphatemia caused by a deep Intronic variant in PHEX.

F. Rauch, O. Caluseriu, E. Rosolowsky, 2023, Bone.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

P. Fergelot, F. Alkuraya, P. Bayrak-Toydemir, 2023, Journal of Medical Genetics.

NSD1 mutations generate a genome-wide DNA methylation signature

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

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

The hutterite variant of treacher collins syndrome: A 28‐year‐old story solved

F. Bernier, A. Innes, J. Parboosingh, 2013, 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.

A revised nomenclature for the lemur family of protein kinases

G. Giamas, O. Caluseriu, S. Hisanaga, 2024, Communications biology.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

L. Vissers, R. Pfundt, E. Bacchelli, 2024, American journal of human genetics.

The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome

Stacey Hume, O. Caluseriu, N. Leonard, 2019, Human mutation.

Role of CAMK2D in neurodevelopment and associated conditions.

J. Rosenfeld, F. Xia, Tzung-Chien Hsieh, 2024, American journal of human genetics.