Author details

Full Name

Catherine A Brownstein

Affiliation

Harvard Medical School.

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37155651	Returning Individual Research Results from Digital Phenotyping in Psychiatry.	Am J Bioeth	2024
37155651	Returning Individual Research Results from Digital Phenotyping in Psychiatry.	Am J Bioeth	2024
36671517	Genetic Predisposition to Neurological Complications in Patients with COVID-19.	Biomolecules	2023
37628281	Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.	Children (Basel)	2023
37062887	Using social media listening to understand barriers to genomic medicine for those living with Ehlers-Danlos syndromes and hypermobility spectrum disorders.	Health Expect	2023
37059315	X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.	Bone	2023
36690831	Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.	Eur J Hum Genet	2023
37107537	Children with Early-Onset Psychosis Have Increased Burden of Rare <i>GRIN2A</i> Variants.	Genes (Basel)	2023
36671517	Genetic Predisposition to Neurological Complications in Patients with COVID-19.	Biomolecules	2023
37531237	Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.	Hum Mol Genet	2023
37628281	Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.	Children (Basel)	2023
37531237	Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.	Hum Mol Genet	2023
37059315	X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.	Bone	2023
37107537	Children with Early-Onset Psychosis Have Increased Burden of Rare <i>GRIN2A</i> Variants.	Genes (Basel)	2023
37062887	Using social media listening to understand barriers to genomic medicine for those living with Ehlers-Danlos syndromes and hypermobility spectrum disorders.	Health Expect	2023
36690831	Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.	Eur J Hum Genet	2023
34707297	ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.	Eur J Hum Genet	2022
36000218	Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.	Am J Psychiatry	2022
36192182	The Phenotypic Continuum of <i>ATP1A3</i>-Related Disorders.	Neurology	2022
36405918	16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.	Front Psychiatry	2022
36910592	Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.	Adv Genet (Hoboken)	2022
36910591	Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.	Adv Genet (Hoboken)	2022
35297214	Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.	Ann Clin Transl Neurol	2022
35294868	Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.	Cell Rep	2022
35036860	Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.	iScience	2022
35027292	Genetic Determinants of Sudden Unexpected Death in Pediatrics.	Genet Med	2022
34707297	ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.	Eur J Hum Genet	2022
35076175	Mendelian etiologies identified with whole exome sequencing in cerebral palsy.	Ann Clin Transl Neurol	2022
36405918	16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.	Front Psychiatry	2022
36910592	Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.	Adv Genet (Hoboken)	2022
36910591	Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.	Adv Genet (Hoboken)	2022
36000218	Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.	Am J Psychiatry	2022
36192182	The Phenotypic Continuum of <i>ATP1A3</i>-Related Disorders.	Neurology	2022
35076175	Mendelian etiologies identified with whole exome sequencing in cerebral palsy.	Ann Clin Transl Neurol	2022
35036860	Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.	iScience	2022
35027292	Genetic Determinants of Sudden Unexpected Death in Pediatrics.	Genet Med	2022
35297214	Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.	Ann Clin Transl Neurol	2022
35294868	Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.	Cell Rep	2022
33098347	Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.	Am J Med Genet A	2021
34232960	A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.	PLoS Genet	2021
34161264	Early role for a Na<sup>+</sup>,K<sup>+</sup>-ATPase (<i>ATP1A3</i>) in brain development.	Proc Natl Acad Sci U S A	2021
33724192	Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.	J Med Internet Res	2021
33597717	RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.	Mol Psychiatry	2021
33098347	Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.	Am J Med Genet A	2021
34514437	A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.	HGG Adv	2021
34645491	Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.	Genome Med	2021
33597717	RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.	Mol Psychiatry	2021
33724192	Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.	J Med Internet Res	2021
34645491	Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.	Genome Med	2021
34514437	A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.	HGG Adv	2021

1 - 50 of 146

John Taylor

Oxford University Hospitals NHS Foundation Trust, Churchill Hospital

Career Start Year 2015

Number of shared co-authors 9

Rebecca C Spillmann

Duke University School of Medicine

Career Start Year 2015

Number of shared co-authors 29

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 20

Margaret Harr

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2013

Number of shared co-authors 33

John J Connolly

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2012

Number of shared co-authors 14

Carolyn D Applegate

Johns Hopkins University School of Medicine

Career Start Year 2012

Number of shared co-authors 17

Kandamurugu Manickam

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

Career Start Year 2010

Number of shared co-authors 19

Chandree L Beaulieu

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa

Career Start Year 2009

Number of shared co-authors 25

David Dimmock

Rady Children's Institute for Genomic Medicine

Career Start Year 2007

Number of shared co-authors 30

Nicole Walley

Duke University School of Medicine and Duke Health System

Career Start Year 2007

Number of shared co-authors 17

Yiran Guo

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Career Start Year 2007

Number of shared co-authors 21

Kevin M Bowling

Washington University School of Medicine

Career Start Year 2006

Number of shared co-authors 19

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 18

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Career Start Year 2005

Number of shared co-authors 8

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 24

Murat Sincan

Boston University School of Public Health

Career Start Year 2004

Number of shared co-authors 24

Caroline F Wright

University of Exeter, Royal Devon and Exeter Hospital

Career Start Year 2003

Number of shared co-authors 27

Loren D M Pena

Duke University Medical Center

Career Start Year 2001

Number of shared co-authors 19

Zornitza Stark

Murdoch Children's Research Institute

Career Start Year 2001

Number of shared co-authors 52

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 42

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 29

Jonathan S Berg

University of North Carolina

Career Start Year 1999

Number of shared co-authors 37

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 22

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 33

Szabolcs Szelinger

College of American Pathologists

Career Start Year 1996

Number of shared co-authors 19

Hakon Hakonarson

The Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 1995

Number of shared co-authors 68

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 40

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 85

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 46

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 31

row(s) 1 - 30 of 30

Alan H Beggs

Broad Institute of MIT and Harvard

Co-authored papers 32

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Co-authored papers 32

Casie A Genetti

Boston Children's Hospital

Co-authored papers 19

Joseph Gonzalez-Heydrich

Boston Children's Hospital, USA Harvard Medical School

Co-authored papers 12

Ingrid A Holm

Harvard Medical School

Co-authored papers 12

Timothy W Yu

Harvard Medical School

Co-authored papers 8

Jill A Madden

Boston Children's Hospital

Co-authored papers 7

David M Margulies

Renaissance School of Medicine, Stony Brook University

Co-authored papers 6

Monica H Wojcik

Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Co-authored papers 5

David C Glahn

Co-authored papers 4

Daniel G MacArthur

Broad Institute of MIT and Harvard

Co-authored papers 4

Nigel G Laing

Harry Perkins Institute of Medical Research, University of Western Australia

Co-authored papers 4

Sara O Vargas

Boston Children's Hospital

Co-authored papers 4

John S Brownstein

Boston Children's Hospital

Co-authored papers 4

Kathryn N North

Murdoch Children's Research Institute

Co-authored papers 4

Monkol Lek

Co-authored papers 4

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 3

Shannon Manzi

Department of Pharmacy, Boston Children's Hospital

Co-authored papers 3

Sanda Alexandrescu

Co-authored papers 3

Sanjay P Prabhu

Co-authored papers 3

Sarah K Savage

Invitae Corporation

Co-authored papers 3

Enrico Bertini