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Author Details

Jean P Pfotenhauer
Vanderbilt University Medical Center
1995
15
12
PMIDPaper TitleJournal TitlePublished Year
32190976Limitations of exome sequencing in detecting rare and undiagnosed diseases.Am J Med Genet A2020
30639323Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.Am J Hum Genet2019
31021519Mutation update for the SATB2 gene.Hum Mutat2019
30679821Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Genet Med2019
26365382USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.Mol Cell2015
23723048Expansion of genetic services utilizing a general genetic counseling clinic.J Genet Couns2014
23861363Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.Circ Cardiovasc Genet2013
21948486Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.Hum Mutat2012
2216694117q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.Eur J Hum Genet2012
24062880Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.Cardiogenetics2011
20309391Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy.Cardiol Res Pract2010
20206336Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Am J Hum Genet2010
10636995Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy.J Pediatr2000
8644721Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening.Am J Hum Genet1996
7611285Teaching about cystic fibrosis carrier screening by using written and video information.Am J Hum Genet1995
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Collaborators

John A Phillips
Vanderbilt University Medical Center
Co-authored papers 7
Vickie Hannig
Vanderbilt University Medical Center
Co-authored papers 5
Thomas M Morgan
Co-authored papers 3
Weimin Bi
Co-authored papers 2
Preston W Campbell
Vanderbilt University School of Medicine, USA Vanderbilt Center for Bone Biology
Co-authored papers 2
Robert A Parker
Massachusetts General Hospital
Co-authored papers 2
Fernando Scaglia
Baylor College of Medicine
Co-authored papers 2
Quinn S Wells
Vanderbilt University Medical Center
Co-authored papers 2
Rizwan Hamid
Vanderbilt University Medical Center
Co-authored papers 2
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 2
E Clayton
Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 2
Peter Weeke
Rigshospitalet, University of Copenhagen
Co-authored papers 1
Samantha Baxter
Broad Institute of MIT and Harvard
Co-authored papers 1
Andrea H Ramirez
Vanderbilt University Medical Center
Co-authored papers 1
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Co-authored papers 1
Donna M Martin
University of Michigan ann arbor
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Rena J Vanzo
Co-authored papers 1
Julie M Gastier-Foster
Baylor College of Medicine
Co-authored papers 1
Denise Horn
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 1
Jacques S Beckmann
University of Lausanne
Co-authored papers 1
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 1
Manuel Holtgrewe
Berlin Institute of Health
Co-authored papers 1
Dan M Roden
Vanderbilt University Medical Center
Co-authored papers 1
Joel N Hirschhorn
Broad Institute of MIT and Harvard
Co-authored papers 1
Rebecca C Spillmann
Duke University School of Medicine
Co-authored papers 1
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 1
Tracy L McGregor
Alnylam Pharmaceuticals
Co-authored papers 1
Sumit Parikh
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Ariel Brautbar
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