Author details

Full Name

Edward J Lose

Affiliation

The University of Alabama at Birmingham School of Medicine

ORCID

Career Start Year

1991

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
33843487	The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.	AJOB Empir Bioeth	2021
31250568	Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).	Mol Genet Genomic Med	2019
29652076	Systematic reanalysis of genomic data improves quality of variant interpretation.	Clin Genet	2018
30302899	Schaaf-Yang syndrome overview: Report of 78 individuals.	Am J Med Genet A	2018
29636925	A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.	Clin Case Rep	2018
29790872	Genomic sequencing identifies secondary findings in a cohort of parent study participants.	Genet Med	2018
27561086	Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.	Genet Med	2017
28554332	Genomic diagnosis for children with intellectual disability and/or developmental delay.	Genome Med	2017
28017373	Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.	Am J Hum Genet	2017
27841880	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.	Nat Genet	2017
27632688	Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.	Genet Med	2017
26385305	Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.	Mol Genet Metab	2015
21340693	BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.	Hum Genet	2011
22031302	Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.	Am J Med Genet A	2011
19282773	AsktheGeneticist: five years of online experience.	Genet Med	2009
19533774	Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.	Am J Med Genet A	2009
18203192	The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay.	Am J Med Genet A	2008
19005331	The emerging role of primary care in genetics.	Curr Opin Pediatr	2008
18025925	Caring for adults with pediatric genetic diseases: a growing need.	Curr Opin Pediatr	2007
1335744	Biology of the syndecans: a family of transmembrane heparan sulfate proteoglycans.	Annu Rev Cell Biol	1992
1769649	Chromosome mapping of the murine syndecan gene.	Genomics	1991

1 - 21 of 21

Carolyn D Applegate

Johns Hopkins University School of Medicine

Career Start Year 2012

Number of shared co-authors 6

Sayaka Hashimoto

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2010

Number of shared co-authors 0

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 2

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 9

Julie Richer

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

Career Start Year 2005

Number of shared co-authors 3

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 8

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 12

John A Bernat

University of Iowa Hospitals and Clinics

Career Start Year 2002

Number of shared co-authors 2

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 4

Christ??le du Souich

University of British Columbia

Career Start Year 1998

Number of shared co-authors 0

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 4

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 18

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 12

Vandana Shashi

Duke University School of Medicine

Career Start Year 1994

Number of shared co-authors 15

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 6

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 17

Theresa A Grebe

Phoenix Children's Hospital

Career Start Year 1992

Number of shared co-authors 9

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 10

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 11

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 6

Stephen W Scherer

The Hospital for Sick Children

Career Start Year 1990

Number of shared co-authors 13

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 11

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 9

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 20

Howard M Saal

Cincinnati Children's Hospital Medical Center

Career Start Year 1985

Number of shared co-authors 8

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 5

Nancy B Spinner

The Perelman School of Medicine at the University of Pennsylvania

Career Start Year 1984

Number of shared co-authors 11

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 9

Elaine H Zackai

Children's Hospital of Philadelphia

Career Start Year 1972

Number of shared co-authors 20

Gabriela M Repetto

Clinica Alemana Universidad del Desarrollo

Career Start Year 1964

Number of shared co-authors 2

row(s) 1 - 30 of 30

Kevin M Bowling

Washington University School of Medicine

Co-authored papers 6

Elizabeth Martina Bebin

University of Alabama at Birmingham

Co-authored papers 6

Richard M Myers