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Lisa G. Shaffer | Researchclopedia

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Lisa G. Shaffer

McMaster University ORCID

431

Works

30,326

Citations

98

h-index

279

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Chromosomal and Genetic Variations

Affiliations

University of North Carolina at Chapel Hill2012–2012

Providence Sacred Heart Medical Center2003–2008

Washington State Department of Health2007–2007

Boston Children's Hospital2013–2013

Albert Einstein College of Medicine2001–2001

Top Works

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner,Alastair J. Martin,et al.

20121,411 citations

Congenital heart defects research

Genetic Syndromes and Imprinting

A copy number variation morbidity map of developmental delay

Gregory M. Cooper,Bradley P. Coe,et al.

20111,391 citations

Chromosome Abnormalities and Genetic Counseling

R. J. M. Gardner,Grant R. Sutherland,et al.

2011865 citations

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan,Jill A. Rosenfeld,et al.

2010671 citations

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan,Jill A. Rosenfeld,et al.

2012627 citations

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Michael E. Talkowski,Jill A. Rosenfeld,et al.

2012595 citations

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz,Partha Sen,et al.

2009527 citations

Estimates of penetrance for recurrent pathogenic copy-number variations

Jill A. Rosenfeld,Bradley P. Coe,et al.

2012429 citations

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

Lorraine Potocki,Ken-Shiung Chen,et al.

2000422 citations