Author details

Full Name

Carolyn D Applegate

Affiliation

Johns Hopkins University School of Medicine

ORCID

Career Start Year

2012

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36952035	Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?	Hum Genet	2024
35337808	The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group.	Chest	2022
36130039	Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.	Curr Protoc	2022
33658631	Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.	Genet Med	2021
32638197	Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.	J Clin Immunol	2020
31814321	Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.	Mol Genet Genomic Med	2020
33150406	KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.	Brain	2020
31178128	Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.	Am J Hum Genet	2019
28932961	Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.	J Genet Couns	2018
30179220	Short telomere syndromes cause a primary T cell immunodeficiency.	J Clin Invest	2018
29463756	Diagnostic utility of telomere length testing in a hospital-based setting.	Proc Natl Acad Sci U S A	2018
28866611	Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability.	J Med Genet	2018
27657687	Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.	Genet Med	2017
28272539	Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.	Eur J Hum Genet	2017
27048600	De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.	Hum Genet	2016
27463701	KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.	Ann Neurol	2016
27510903	Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.	Sci Transl Med	2016
24682289	High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.	J Child Neurol	2015
26312378	CRB1-Related Maculopathy With Cystoid Macular Edema.	JAMA Ophthalmol	2015
26664771	The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.	Case Rep Genet	2015
26139517	Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.	Am J Med Genet A	2015
24625444	The impact of chromosomal microarray on clinical management: a retrospective analysis.	Genet Med	2014
24684524	Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.	Dev Med Child Neurol	2014
23495222	Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.	Am J Med Genet A	2013
24142417	A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.	Mov Disord	2013
22585553	A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.	Am J Med Genet A	2012

1 - 26 of 26

Margaret Harr

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2013

Number of shared co-authors 12

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 14

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 3

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 18

Chandree L Beaulieu

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

Career Start Year 2009

Number of shared co-authors 6

Catherine A Brownstein

Harvard Medical School.

Career Start Year 2008

Number of shared co-authors 17

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 13

Julie S Cohen

Kennedy Krieger Institute

Career Start Year 2007

Number of shared co-authors 19

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 4

Julie Richer

University of Ottawa, Canada Children's Hospital of Eastern Ontario

Career Start Year 2005

Number of shared co-authors 6

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 8

Kelly Schoch

Duke University School of Medicine

Career Start Year 2004

Number of shared co-authors 10

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 8

Heidi Cope

GenOmics and Translational Research Center

Career Start Year 2002

Number of shared co-authors 5

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 15

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 23

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 11

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 21

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 5

Christ??le du Souich

University of British Columbia

Career Start Year 1998

Number of shared co-authors 4

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 12

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 20

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 9

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 24

Vandana Shashi

Duke University School of Medicine

Career Start Year 1994

Number of shared co-authors 17

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 8

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 17

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 21

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 18

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 12

row(s) 1 - 30 of 30

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 7

Julie Hoover-Fong

Johns Hopkins University

Co-authored papers 3

Amanda L Bergner

Vagelos College of Physicians and Surgeons, Columbia University

Co-authored papers 2

Bert B A de Vries

Radboud University Medical Center

Co-authored papers 2

Cynthia A James

Johns Hopkins University

Co-authored papers 2

Nara Sobreira

Johns Hopkins University

Co-authored papers 2

Megan T Cho

Co-authored papers 2

Juli Bollinger

Berman Institute of Bioethics, Johns Hopkins University

Co-authored papers 2

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 1

Yaping Yang

Baylor College of Medicine

Co-authored papers 1

Joann Bodurtha

Johns Hopkins McKusick-Nathans Department of Genetic Medicine

Co-authored papers 1

Jennifer Friedman

University of California, Rady Children's Hospital San Diego

Co-authored papers 1

Camilo Toro

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 1

Carl E Stafstrom

Johns Hopkins University School of Medicine

Co-authored papers 1

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Co-authored papers 1

Zeynep Coban Akdemir

Baylor College of Medicine

Co-authored papers 1

Robert A Brodsky

Sidney Kimmel Cancer Center, Johns Hopkins University

Co-authored papers 1

Luis Rohena

Co-authored papers 1

John W Belmont

Baylor College of Medicine

Co-authored papers 1

Jennifer E Posey

Baylor College of Medicine

Co-authored papers 1

Boris Fichtman

Bar-Ilan University

Co-authored papers 1

Laila Selim

Cairo University

Co-authored papers 1

Hendrik P N Scholl

Institute of Molecular and Clinical Ophthalmology Basel

Co-authored papers 1

Ludmila Danilova

Bloomberg-Kimmel Immunotherapy Institute, Johns Hopkins University School of Medicine

Co-authored papers 1

William B Dobyns

University of Minnesota

Co-authored papers 1

Fiona Stewart

Belfast City Hospital

Co-authored papers 1

Suh Young Jeong

Co-authored papers 1

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Co-authored papers 1

Kathleen M Gorman

University College Dublin

Co-authored papers 1

Susan J Hayflick

Co-authored papers 1

1 - 30

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