William A. Scaringe

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index822citations28works0.02yr avg
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Research Topics

Cancer Genomics and Diagnostics(9), CRISPR and Genetic Engineering(7), Hemophilia Treatment and Research(7), Cancer-related gene regulation(7), Genomics and Chromatin Dynamics(5)

Publications28 total

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics
Frontiers in Genetics·2021· 29 citedOpen Access
The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism
Journal of Molecular Diagnostics·2020· 17 cited
MitoNuc2Dx — Analyzing the mitochondrial genes encoded in the nuclear genome to assess their possible association with mitochondrial disorders
Mitochondrion·2012
NextGen Sequencing of the complete mtDNA genome: 20% estimated positive cases among recent 117 patients
Mitochondrion·2012
MitoDx: Massively parallel sequencing of the mitochondrial genome may diagnose mitochondrial disease without invasive biopsies
Mitochondrion·2011
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates
Human Molecular Genetics·2008· 11 citedOpen Access
Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia
Biochemical and Biophysical Research Communications·2008· 93 cited
A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin
Proceedings of the National Academy of Sciences·2007· 38 citedOpen Access
Evidence for mutation showers
Proceedings of the National Academy of Sciences·2007· 75 citedOpen Access
Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature
Human Mutation·2007· 60 cited
Somatic microindels: analysis in mouse soma and comparison with the human germline
Human Mutation·2006· 22 cited
Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide
Human Mutation·2005· 60 cited
Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice
Environmental and Molecular Mutagenesis·2005· 31 cited
Preferential occurrence of 1-2 microindels
Human Mutation·2005· 7 citedOpen Access
Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency
Mutation research. Fundamental and molecular mechanisms of mutagenesis·2004· 24 cited
Three‐tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD)
Human Mutation·2004· 39 cited
Spontaneous mutation in Big Blue® mice from fetus to old age: Tissue‐specific time courses of mutation frequency but similar mutation types
Environmental and Molecular Mutagenesis·2004· 65 cited
Is Alu-mediated Recombination an Important Cause of Hemophilia?
Thrombosis and Haemostasis·2002· 3 cited
Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations
Human Mutation·2001· 4 cited
Human germline mutation in the factor IX gene
Mutation Research/DNA Repair·2001· 47 cited
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Frequent Co-authors

Steve S. Sommer(25), Kathleen A. Hill(13), Jinong Feng(6), Kelly Gonzalez(6), Jicheng Wang(5), Carolyn H. Buzin(5), Joni B. Drost(5), Carol K. Kasper(4), Dongqing Gu(4), Xuemin Li(3), Wenjia Song(2), Stacy Roberts(2), Wenyan Li(2), Victoria L. Buettner(2), Asanga Halangoda(2), Jeff Longmate(2), Yan Jin(2), Qiang Liu(2), Johan T. den Dunnen(2), Jerry R. Mendell(2)