P
P. Dane Witmer
Researcher at Johns Hopkins University
Publications - 17
Citations - 2385
P. Dane Witmer is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: Exome sequencing & Hearing loss. The author has an hindex of 11, co-authored 17 publications receiving 1939 citations. Previous affiliations of P. Dane Witmer include Johns Hopkins University School of Medicine.
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Journal ArticleDOI
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong,Kati J. Buckingham,Shalini N. Jhangiani,C. D. Boehm,Nara Sobreira,Joshua D. Smith,Tanya M. Harrell,Margaret J. McMillin,Wojciech Wiszniewski,Tomasz Gambin,Zeynep Coban Akdemir,Kimberly F. Doheny,Alan F. Scott,Dimitri Avramopoulos,Aravinda Chakravarti,Julie Hoover-Fong,Debra J. H. Mathews,P. Dane Witmer,Hua Ling,Kurt N. Hetrick,Lee Watkins,Karynne E. Patterson,Frederic Reinier,Elizabeth Blue,Donna M. Muzny,Martin Kircher,Kaya Bilguvar,Francesc López-Giráldez,V. Reid Sutton,Holly K. Tabor,Holly K. Tabor,Suzanne M. Leal,Murat Gunel,Shrikant Mane,Richard A. Gibbs,Eric Boerwinkle,Eric Boerwinkle,Ada Hamosh,Jay Shendure,James R. Lupski,Richard P. Lifton,Richard P. Lifton,David Valle,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad +45 more
TL;DR: This collaborative effort has identified 956 genes, including 375 not previously associated with human health, that underlie a Mendelian phenotype, providing insight into study design and analytical strategies, identify novel mechanisms of disease, and reveal the extensive clinical variability of Mendelia phenotypes.
Journal ArticleDOI
MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.
TL;DR: The results suggest thatmiR-96 and miR-182 are involved in circadian rhythm regulation of the retina, perhaps by modulating the expression of adenylyl cyclase VI (ADCY6).
Journal ArticleDOI
DNA methylation regulates MicroRNA expression.
TL;DR: Comparing miRNA expression profiles between colon cancer cell line HCT 116 and its derivative, DNA methyltransferase 1 and 3b (DNMT1 and DNMT3b) double knockout cell line, it was found that the expression of about 10% miRNAs was regulated by DNA methylation.
Journal ArticleDOI
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
Koji Shindo,Jun Yu,Masaya Suenaga,Shahriar Fesharakizadeh,Christy Cho,Anne Macgregor-Das,Abdulrehman Siddiqui,P. Dane Witmer,Koji Tamura,Tae Jun Song,Jose Alejandro Almario,Aaron Brant,Michael Borges,Madeline Ford,Thomas Barkley,Jin He,Matthew J. Weiss,Christopher L. Wolfgang,Nicholas J. Roberts,Ralph H. Hruban,Alison P. Klein,Michael Goggins +21 more
TL;DR: Germline mutations in pancreatic cancer susceptibility genes are commonly identified in patients with Pancreatic cancer without a significant family history of cancer, and will be missed if current family history guidelines are the main criteria used to determine the appropriateness of gene testing.
Journal ArticleDOI
Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration
Stephen Lumayag,Caroline E. Haldin,Nicola J. Corbett,Karl J. Wahlin,Colleen Cowan,Sanja Turturro,Peter E. Larsen,Beatrix Kovacs,P. Dane Witmer,David Valle,Donald J. Zack,Daniel A. Nicholson,Shunbin Xu +12 more
TL;DR: Evidence is provided that inactivation of the microRNA-183/96/182 cluster results in early-onset and progressive synaptic defects of the photoreceptors, leading to abnormalities of scotopic and photopic electroretinograms with decreased b-wave amplitude as the primary defect and progressive retinal degeneration.