Author details

Full Name

Bridget A Fernandez

Affiliation

Memorial University of Newfoundland

ORCID

Career Start Year

1999

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36368308	Genomic architecture of autism from comprehensive whole-genome sequence annotation.	Cell	2022
36309498	Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.	Nat Commun	2022
36368308	Genomic architecture of autism from comprehensive whole-genome sequence annotation.	Cell	2022
36309498	Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.	Nat Commun	2022
32372567	Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.	Am J Med Genet B Neuropsychiatr Genet	2020
32372567	Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.	Am J Med Genet B Neuropsychiatr Genet	2020
31994352	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.	Mol Genet Genomic Med	2020
31994352	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.	Mol Genet Genomic Med	2020
31046701	Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.	BMC Med Genet	2019
31602316	A large data resource of genomic copy number variation across neurodevelopmental disorders.	NPJ Genom Med	2019
31046701	Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.	BMC Med Genet	2019
31391130	Familial Intracranial Aneurysm in Newfoundland: Clinical and Genetic Analysis.	Can J Neurol Sci	2019
31602316	A large data resource of genomic copy number variation across neurodevelopmental disorders.	NPJ Genom Med	2019
31391130	Familial Intracranial Aneurysm in Newfoundland: Clinical and Genetic Analysis.	Can J Neurol Sci	2019
29890955	A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.	J Neurodev Disord	2018
29890955	A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.	J Neurodev Disord	2018
29398931	Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.	Dialogues Clin Neurosci	2017
29398931	Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.	Dialogues Clin Neurosci	2017
28263302	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.	Nat Neurosci	2017
28170084	Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.	Clin Genet	2017
28170084	Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.	Clin Genet	2017
28263302	Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.	Nat Neurosci	2017
27525107	Genome-wide characteristics of <i>de novo</i> mutations in autism.	NPJ Genom Med	2016
26650942	Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.	Horm Res Paediatr	2016
26283276	Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.	Clin Genet	2016
26671912	Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.	J Med Genet	2016
27525107	Genome-wide characteristics of <i>de novo</i> mutations in autism.	NPJ Genom Med	2016
26650942	Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.	Horm Res Paediatr	2016
26671912	Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.	J Med Genet	2016
26283276	Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.	Clin Genet	2016
25432440	Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.	Hum Genet	2015
25621899	Whole-genome sequencing of quartet families with autism spectrum disorder.	Nat Med	2015
25432440	Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.	Hum Genet	2015
25951830	The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.	J Med Genet	2015
26442225	Incidence and cohort prevalence for autism spectrum disorders in the Avalon Peninsula, Newfoundland and Labrador.	CMAJ Open	2015
26182300	Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.	JAMA Oncol	2015
26325558	Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.	JAMA	2015
26325558	Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.	JAMA	2015
26442225	Incidence and cohort prevalence for autism spectrum disorders in the Avalon Peninsula, Newfoundland and Labrador.	CMAJ Open	2015
26182300	Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.	JAMA Oncol	2015
25951830	The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.	J Med Genet	2015
25621899	Whole-genome sequencing of quartet families with autism spectrum disorder.	Nat Med	2015
24418986	Autism spectrum disorder: advances in evidence-based practice.	CMAJ	2014
25363760	Synaptic, transcriptional and chromatin genes disrupted in autism.	Nature	2014
24381304	Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.	Hum Mol Genet	2014
24418986	Autism spectrum disorder: advances in evidence-based practice.	CMAJ	2014
24768552	Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.	Am J Hum Genet	2014
24906018	FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.	Am J Hum Genet	2014
25363760	Synaptic, transcriptional and chromatin genes disrupted in autism.	Nature	2014
24768552	Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.	Am J Hum Genet	2014

1 - 50 of 140

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Career Start Year 2013

Number of shared co-authors 11

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 19

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 5

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 33

Julie S Cohen

Kennedy Krieger Institute

Career Start Year 2007

Number of shared co-authors 14

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 20

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 12

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 32

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 16

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 29

Matthew Pastore

Nationwide Children's Hospital, The Ohio State University College of Medicine

Career Start Year 2003

Number of shared co-authors 10

Santhosh Girirajan

The Huck Institutes of Life Sciences, University Park, Pennsylvania State University

Career Start Year 2003

Number of shared co-authors 16

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 18

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 25

Christ??le du Souich

University of British Columbia

Career Start Year 1998

Number of shared co-authors 7

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 13

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 23

Zoran Brkanac

University of Washington

Career Start Year 1996

Number of shared co-authors 4

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 29

Christa Lese Martin

Autism and Developmental Medicine Institute

Career Start Year 1995

Number of shared co-authors 54

Vandana Shashi

Duke University School of Medicine

Career Start Year 1994

Number of shared co-authors 25

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 30

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 20

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 24

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 20

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 34

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 20

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 30

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 33

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 24

row(s) 1 - 30 of 30

Stephen W Scherer

The Hospital for Sick Children

Co-authored papers 41

Peter Szatmari

Hospital for Sick Children, University of Toronto

Co-authored papers 31

Christian R Marshall

Co-authored papers 29

Ann Thompson

McMaster University

Co-authored papers 13

Ryan K C Yuen

Co-authored papers 12

Susan Walker

Co-authored papers 11

Dalila Pinto

Icahn School of Medicine at Mount Sinai

Co-authored papers 11

Marc Woodbury-Smith

Biosciences Institute, Newcastle University

Co-authored papers 9

Louise Gallagher

Co-authored papers 9

James S Sutcliffe

Vanderbilt Genetics Institute, Vanderbilt University

Co-authored papers 9

Andrew D Paterson

The Hospital for Sick Children

Co-authored papers 9

Veronica J Vieland

The Ohio State University

Co-authored papers 9

Edwin H Cook

Co-authored papers 9

Mehdi Zarrei

Co-authored papers 8

Joseph Piven

Oregon Health & Science University

Co-authored papers 8

Eric Fombonne

Oregon Health & Science University (OHSU)

Co-authored papers 8

Joseph D Buxbaum

Icahn School of Medicine at Mount Sinai

Co-authored papers 7

Geraldine Dawson

Co-authored papers 7

Jeremy R Parr

Co-authored papers 7

Stephen J Guter

Co-authored papers 7

Kristiina Tammimies

Co-authored papers 7

Patrick F Bolton

Co-authored papers 7

Gerard D Schellenberg

Co-authored papers 7

Marion Leboyer

INSERM U

Co-authored papers 6

Catalina Betancur

Co-authored papers 6

Alexander Kolevzon

Co-authored papers 6

Eftichia Duketis

Co-authored papers 6

Sabine M Klauck

Co-authored papers 6

Emily L Crawford

Co-authored papers 6

Agatino Battaglia

Co-authored papers 6

1 - 30

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