نتائج البحث - P. Dane Witmer

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  1. 1
    MicroRNA (miRNA) Transcriptome of Mouse Retina and Identification of a Sensory Organ-specific miRNA Cluster

    MicroRNA (miRNA) Transcriptome of Mouse Retina and Identification of a Sensory Organ-specific miRNA Cluster حسب Shunbin Xu, P. Dane Witmer, Stephen Lumayag, Beatrix Kovacs, David Valle

    منشور في 2007
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    Artigo
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  2. 2
    DNA methylation regulates microRNA expression

    DNA methylation regulates microRNA expression حسب Liangfeng Han, P. Dane Witmer, Emily Casey, David Valle, Saraswati Sukumar

    منشور في 2007
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    Artigo
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  3. 3
    Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

    Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia حسب R. Li, N. Sobreira, P. Dane Witmer, Keith W. Pratz, Evan M. Braunstein

    منشور في 2016
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    Carta
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  4. 4
    Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

    Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation حسب Courtney Thaxton, Jennifer Goldstein, Marina T. DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa Haendel, Ada Hamosh, Heidi L. Rehm, Jonathan S. Berg

    منشور في 2022
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    Artigo
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  5. 5
    Pancreatic Juice Mutation Concentrations Can Help Predict the Grade of Dysplasia in Patients Undergoing Pancreatic Surveillance

    Pancreatic Juice Mutation Concentrations Can Help Predict the Grade of Dysplasia in Patients Undergoing Pancreatic Surveillance حسب Masaya Suenaga, Jun Yu, Koji Shindo, Koji Tamura, Jose Alejandro Almario, Christopher Zaykoski, P. Dane Witmer, Shahriar Fesharakizadeh, Michael Borges, Anne Marie Lennon, Eun-Ji Shin, Marcia I. Canto, Michael Goggins

    منشور في 2018
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  6. 6
    Inactivation of the microRNA<i>-183/96/182</i>cluster results in syndromic retinal degeneration

    Inactivation of the microRNA<i>-183/96/182</i>cluster results in syndromic retinal degeneration حسب Stephen Lumayag, Caroline E. Haldin, Nicola J. Corbett, Karl Wahlin, Colleen Cowan, Sanja Turturro, Peter E. Larsen, Beatrix Kovacs, P. Dane Witmer, David Valle, Donald J. Zack, Daniel A. Nicholson, Shunbin Xu

    منشور في 2013
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  7. 7
    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome

    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome حسب Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church

    منشور في 2014
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  8. 8
    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection حسب Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Alan L. Scott, P. Dane Witmer, Lesley C. Adès, Grégor Andelfinger, Pauline Arnaud, Cathérine Boileau, Bert Callewaert, Dongchuan Guo, Nadine Hanna, Mark E. Lindsay, Hiroko Morisaki, Takayuki Morisaki, Nicholas Pachter, Leema Robert, Lut Van Laer, Harry C. Dietz, Bart Loeys, Dianna M. Milewicz, Julie De Backer

    منشور في 2018
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    Artigo
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  9. 9
    Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma

    Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma حسب Koji Shindo, Jun Yu, Masaya Suenaga, Shahriar Fesharakizadeh, Christy J. 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

    منشور في 2017
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    Artigo
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  10. 10
    Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

    Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance حسب Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl S. Barron, Deborah L. Stone, Patrycja Hoffmann, Michael S. Hershfield, Carolyn Applegate, Hans T. Björnsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich

    منشور في 2020
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    Artigo
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  11. 11
    Insights into genetics, human biology and disease gleaned from family based genomic studies

    Insights into genetics, human biology and disease gleaned from family based genomic studies حسب Jennifer E. Posey, Anne O’Donnell‐Luria, Jessica X. Chong, Tamar Harel, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Steven Buyske, Davut Pehli̇van, Claudia M.B. Carvalho, Samantha Baxter, Nara Sobreira, Pengfei Liu, Nan Wu, Jill A. Rosenfeld, Sushant Kumar, Dimitri Avramopoulos, Janson J. White, Kimberly F. Doheny, P. Dane Witmer, Corinne D. Boehm, V. Reid Sutton, Donna M. Muzny, Eric Boerwinkle, Murat Günel, Deborah A. Nickerson, Shrikant Mane, Daniel G. MacArthur, Richard A. Gibbs, Ada Hamosh, Richard P. Lifton, Tara C. Matise, Heidi L. Rehm, Mark Gerstein, Michael J. Bamshad, David Valle, James R. Lupski

    منشور في 2019
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    Revisão
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  12. 12
    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities حسب Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, Corinne D. Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H. Coban Akdemir, Kimberly F. Doheny, Alan F. Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover‐Fong, Debra Mathews, P. Dane Witmer, Hua Ling, Kurt N. Hetrick, Lee Watkins, Karynne Patterson, Frédéric Reinier, Elizabeth Blue, Donna M. Muzny, Martin Kircher, Kaya Bilgüvar, Francesc López‐Giráldez, V. Reid Sutton, Holly K. Tabor, Suzanne M. Leal, Murat Günel, Shrikant Mane, Richard A. Gibbs, Eric Boerwinkle, Ada Hamosh, Jay Shendure, James R. Lupski, Richard P. Lifton, David Valle, Deborah A. Nickerson, Michael J. Bamshad

    منشور في 2015
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    Revisão
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  13. 13
    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

    Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome حسب David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes

    منشور في 2020
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    Artigo
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