B. Fernandez

John Wei, S. Scherer, B. Fernandez, 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A large data resource of genomic copy number variation across neurodevelopmental disorders

John Wei, S. Scherer, D. Merico, 2019, npj Genomic Medicine.

Identify Risk Genes for ADHD Rare Copy Number Variation Discovery and Cross-Disorder Comparisons

John Wei, S. Scherer, A. Carson, 2011 .

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

D. Merico, B. Fernandez, J. Howe, 2021, Nature Communications.

Genome-wide detection of tandem DNA repeats that are expanded in autism

B. Fernandez, J. Howe, L. Zwaigenbaum, 2020, Nature.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

B. Fernandez, K. Boycott, T. Hartley, 2017, Clinical 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.

Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)

B. Fernandez, P. Stankiewicz, J. Lupski, 2007, Human Genetics.

Autism Spectrum Disorder

D. Pinto, S. Scherer, P. Bolton, 2018, Sleep in Children with Neurodevelopmental Disabilities.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Birgit Sikkema-Raddatz, Christian R Marshall, Stephen W Scherer, 2010, European Journal of Human 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.

Contribution of SHANK 3 Mutations to Autism Spectrum Disorder

D. Pinto, S. Scherer, J. Sutcliffe, 2007 .

Human Chromosome 7: DNA Sequence and Biology

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

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

B. Fernandez, M. Hayden, W. Meschino, 2003, Clinical genetics.

Title Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16 p 11 . 2 in individuals ascertained for diagnosis of autism spectrum disorder

S. Scherer, B. Chung, B. Fernandez, 2022 .

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.

Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study

B. Fernandez, N. Katsanis, Yanli Fan, 2005, American journal of medical genetics. Part A.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

M. King, B. Fernandez, Ming K. Lee, 2001, Human molecular genetics.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

S. Scherer, B. Fernandez, M. Woods, 2012, BMC Medical Genetics.

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

B. Fernandez, M. Brudno, M. Woods, 2020, Scientific Reports.

A molecular genetic study of autism and related phenotypes in extended pedigrees

Kimberly A. Walters, B. Fernandez, J. Piven, 2013, Journal of Neurodevelopmental Disorders.

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.

The Newfoundland population: a unique resource for genetic investigation of complex diseases.

N. Freimer, B. Fernandez, P. Rahman, 2003, Human molecular genetics.

Incidence and cohort prevalence for autism spectrum disorders in the Avalon Peninsula, Newfoundland and Labrador.

B. Fernandez, L. Newhook, C. Vardy, 2015, CMAJ open.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family

B. Fernandez, F. van Petegem, K. Hodgkinson, 2020, Molecular genetics & genomic medicine.

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees

S. Scherer, B. Fernandez, J. Howe, 2018, Journal of Neurodevelopmental Disorders.

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

S. Scherer, J. Sutcliffe, D. Merico, 2015, Human Genetics.

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

S. Scherer, B. Chung, B. Fernandez, 2011, European journal of medical genetics.

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.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

Christopher S. Poultney, Stephan J Sanders, Stephen J. Guter, 2017, Molecular Autism.

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees

S. Scherer, B. Fernandez, J. Howe, 2018, Journal of Neurodevelopmental Disorders.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

D. Pinto, S. Scherer, T. Bourgeron, 2012, American journal of human genetics.

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.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

John Wei, S. Scherer, A. Carson, 2011, Science Translational Medicine.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Stephen J. Guter, D. Pinto, S. Scherer, 2011, Human Genetics.

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

B. Fernandez, A. Talhouk, C. Caldas, 2015, JAMA oncology.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

John Wei, S. Scherer, D. Merico, 2015, JAMA.