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Author Details

Philip D Witmer
Johns Hopkins Genomics, Johns Hopkins University
2003
19
13
PMIDPaper TitleJournal TitlePublished Year
35754516Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.Cell Genom2022
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
34265170Variants of human CLDN9 cause mild to profound hearing loss.Hum Mutat2021
32681043Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.Sci Rep2020
31994743The utility of exome sequencing for fetal pleural effusions.Prenat Diagn2020
32638197Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.J Clin Immunol2020
31028865Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.Gene2019
29301828Pancreatic Juice Mutation Concentrations Can Help Predict the Grade of Dysplasia in Patients Undergoing Pancreatic Surveillance.Clin Cancer Res2018
30071989Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.J Am Coll Cardiol2018
28075488Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing.Curr Protoc Hum Genet2017
28767289Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.J Clin Oncol2017
26944477Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.Haematologica2016
25394726Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.Am J Med Genet A2015
26166479The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.Am J Hum Genet2015
23341629Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration.Proc Natl Acad Sci U S A2013
20186779miRNA mutations are not a common cause of deafness.Am J Med Genet A2010
17660710DNA methylation regulates MicroRNA expression.Cancer Biol Ther2007
17597072MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.J Biol Chem2007
12618379The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis.Genome Res2003
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Collaborators

Nara Sobreira
Johns Hopkins University
Co-authored papers 8
David Valle
Johns Hopkins School of Medicine
Co-authored papers 6
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 4
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 4
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 2
Kurt N Hetrick
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 2
Elizabeth E Blue
University of Washington
Co-authored papers 2
Hua Ling
Chongqing Center for Disease Control and Prevention.
Co-authored papers 2
Francesc L??pez-Gir??ldez
Yale Center for Genomic Analysis
Co-authored papers 2
Alan F Scott
Johns Hopkins University School of Medicine
Co-authored papers 2
Eric Boerwinkle
Baylor College of Medicine
Co-authored papers 2
Corinne Boehm
Johns Hopkins University School of Medicine
Co-authored papers 2
Michael J Bamshad
University of Washington
Co-authored papers 2
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 2
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 2
Deborah A Nickerson
University of Washington
Co-authored papers 2
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Katia Sol-Church
Co-authored papers 1
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 1
Dimitrios Avramopoulos
Johns Hopkins School of Medicine
Co-authored papers 1
Hatip Aydin
Zeynep Kamil Maternity and Children's Training and Research Hospital
Co-authored papers 1
Courtney Thaxton
University of North Carolina at Chapel Hill
Co-authored papers 1
Carolyn D Applegate
Johns Hopkins University School of Medicine
Co-authored papers 1
Tanya M Harrell
University of Washington.
Co-authored papers 1
Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
Co-authored papers 1
Holly K Tabor
Stanford Center for Biomedical Ethics (SCBE), Stanford University
Co-authored papers 1
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Co-authored papers 1
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 1
Joshua D Smith
University of Washington
Co-authored papers 1
Wojciech Wiszniewski
Oregon Health & Sciences University
Co-authored papers 1
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