Author details

Full Name

Laura M Kasch

Affiliation

Johns Hopkins School of Medicine

ORCID

Career Start Year

1989

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34343137	Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.	J Clin Invest	2021
29893754	Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells.	Sci Data	2018
30140897	Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals.	JAMA Cardiol	2018
24993872	Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.	JAMA Ophthalmol	2014
21295226	Monoamine oxidase A regulates antisocial personality in whites with no history of physical abuse.	Compr Psychiatry	2011
21626217	Polymorphisms of the beta adrenergic receptor predict left ventricular remodeling following acute myocardial infarction.	Cardiovasc Drugs Ther	2011
19647838	Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.	J Pediatr	2009
16100168	Hypoxia-inducible factor 1alpha polymorphism and coronary collaterals in patients with ischemic heart disease.	Chest	2005
15564935	Platelet gene polymorphisms and cardiac risk assessment in vascular surgical patients.	Anesthesiology	2004
12218784	Genetic and environmental risk factors for sagittal craniosynostosis.	J Craniofac Surg	2002
19498960	Strategies for genotyping: Effectiveness of tailing primers to increase accuracy in short tandem repeat determinations.	J Biomol Tech	2002
12584438	Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.	Cytogenet Genome Res	2002
9731535	Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21.	Nat Genet	1998
8986281	A paternally derived inverted duplication of 7q with evidence of a telomeric deletion.	Am J Med Genet	1997
7485255	Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3.	Am J Med Genet	1995
7573181	Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes.	Am J Med Genet	1995
7581443	Schizophrenia susceptibility and chromosome 6p24-22.	Nat Genet	1995
7726207	Report from the Maryland Epidemiology Schizophrenia Linkage Study: no evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model.	Am J Med Genet	1994
8178837	Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1.	Am J Med Genet	1994
7909990	Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2.	Am J Med Genet	1994
7943068	The use of polymerase chain reaction to determine fetal RhD status.	Am J Obstet Gynecol	1994
1908096	Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.	Proc Natl Acad Sci U S A	1991
1849271	Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina.	Proc Natl Acad Sci U S A	1991
1924291	Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.	Proc Natl Acad Sci U S A	1991
1695717	A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.	Nature	1990
1979060	Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.	Genomics	1990
2151181	Prenatal testing for Huntington disease.	Birth Defects Orig Artic Ser	1990
2233965	Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.	N Engl J Med	1990
2523979	Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease.	JAMA	1989
2563631	Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.	Am J Hum Genet	1989

1 - 30 of 30

Alexandre Montpetit

McGill University and Genome Quebec Innovation Centre

Career Start Year 1998

Number of shared co-authors 2

Lars Allan Larsen

University of Copenhagen

Career Start Year 1996

Number of shared co-authors 2

Birgit Funke

Partners Healthcare Center for Personalized Genetic Medicine

Career Start Year 1994

Number of shared co-authors 3

Dimitrios Avramopoulos

Johns Hopkins School of Medicine

Career Start Year 1992

Number of shared co-authors 6

Stephen W Scherer

The Hospital for Sick Children

Career Start Year 1990

Number of shared co-authors 8

Markus M N??then

Institute of Human Genetics, University Hospital Bonn

Career Start Year 1989

Number of shared co-authors 6

Bertram M??ller-Myhsok

Max Planck Institute of Psychiatry

Career Start Year 1989

Number of shared co-authors 3

Johanna M Rommens

The Hospital for Sick Children

Career Start Year 1988

Number of shared co-authors 3

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 2

Juha Kere

Folkhalsan Research Center, University of Helsinki

Career Start Year 1987

Number of shared co-authors 1

Anne S Bassett

Institute of Medical Science, University of Toronto

Career Start Year 1986

Number of shared co-authors 3

Jonathan L Haines

Cleveland Institute for Computational Biology, Case Western Reserve University

Career Start Year 1984

Number of shared co-authors 6

Linda M Brzustowicz

The State University of New Jersey

Career Start Year 1983

Number of shared co-authors 0

Xavier Estivill

Sidra Medical Center

Career Start Year 1983

Number of shared co-authors 2

David N Cooper

Institute of Medical Genetics, Cardiff University

Career Start Year 1983

Number of shared co-authors 4

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 1

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 4

James R Lupski

Baylor College of Medicine

Career Start Year 1981

Number of shared co-authors 9

Michael Dean

National Cancer Institute

Career Start Year 1980

Number of shared co-authors 4

John W Belmont

Baylor College of Medicine

Career Start Year 1979

Number of shared co-authors 8

Sevilla D Detera-Wadleigh

National Institute of Mental Health Intramural Research Program

Career Start Year 1979

Number of shared co-authors 3

Francis S Collins

University of Michigan ann arbor

Career Start Year 1978

Number of shared co-authors 8

Graeme Suthers

University of Adelaide

Career Start Year 1977

Number of shared co-authors 0

Deborah A Nickerson

University of Washington

Career Start Year 1976

Number of shared co-authors 7

Robert L Nussbaum

Invitae Corporation

Career Start Year 1976

Number of shared co-authors 2

David H Ledbetter

University of Florida, College of Medicine-Jacksonville

Career Start Year 1976

Number of shared co-authors 4

Mark Lathrop

Victor Philip Dahdaleh Institute of Genomic Medicine at McGill University

Career Start Year 1975

Number of shared co-authors 5

Mark F Leppert

University of Utah

Career Start Year 1968

Number of shared co-authors 2

Arthur L Beaudet

Baylor College of Medicine

Career Start Year 1968

Number of shared co-authors 5

Robert Williamson

Murdoch Children's Research Institute

Career Start Year 1963

Number of shared co-authors 2

row(s) 1 - 30 of 30

Stylianos E Antonarakis

Co-authored papers 12

Garry R Cutting

Johns Hopkins University School of Medicine

Co-authored papers 5

Roxann G Ingersoll

Mc-Kusick-Nathans Institute of Genetic Medicine, Johns Hopkins

Co-authored papers 4

David E Housman

Co-authored papers 4

Alan F Scott

Johns Hopkins University School of Medicine

Co-authored papers 3

Deborah A Meyers

Co-authored papers 3

Lap-Chee Tsui

The University of Hong Kong

Co-authored papers 2

David W Mohr

Johns Hopkins University School of Medicine

Co-authored papers 2

Aaron Hamvas

Northwestern University Feinberg School of Medicine

Co-authored papers 1

Sara J C Gosline

Pacific Northwest National Laboratory (PNNL)

Co-authored papers 1

Arthur M Feldman

Co-authored papers 1

Anthony Sciscione

Delaware Center for Maternal Fetal Medicine

Co-authored papers 1

John Christodoulou

University of Melbourne, The Royal Children's Hospital

Co-authored papers 1

Christine E Seidman

Brigham and Women's Hospital (Y.K.

Co-authored papers 1

Dennis M McNamara

Co-authored papers 1

Peter J Pronovost

University Hospitals Cleveland Medical Center

Co-authored papers 1

Margaret R Wallace

UF Genetics Institute, University of Florida

Co-authored papers 1

Muniswamy Madesh

Co-authored papers 1

John A Phillips

Vanderbilt University Medical Center

Co-authored papers 1

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Co-authored papers 1

Khurram Nasir

Center for Health Data Science and Analytics

Co-authored papers 1

Clair A Francomano

Indiana University School of Medicine

Co-authored papers 1

Jason Yanofski

Yale University

Co-authored papers 1

Rajarshi Guha

Vertex Pharmaceuticals

Co-authored papers 1

Dannielle A Ryman

Johns Hopkins University School of Medicine

Co-authored papers 1

Kamel Khalili

Co-authored papers 1

Sharad K Verma

Johns Hopkins University

Co-authored papers 1

Jaishri O Blakeley

Johns Hopkins University

Co-authored papers 1

Jonathan G Seidman

Harvard Medical School

Co-authored papers 1

Virginia L Willour

University of Iowa

Co-authored papers 1

1 - 30

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