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Samantha Penney
Researcher at Baylor College of Medicine
Publications - 13
Citations - 1394
Samantha Penney is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 13, co-authored 13 publications receiving 1107 citations. Previous affiliations of Samantha Penney include Boston Children's Hospital.
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Journal ArticleDOI
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Shinya Yamamoto,Manish Jaiswal,Wu Lin Charng,Tomasz Gambin,Ender Karaca,Ghayda M. Mirzaa,Ghayda M. Mirzaa,Wojciech Wiszniewski,Hector Sandoval,Nele A Haelterman,Bo Xiong,Ke Zhang,Vafa Bayat,Gabriela David,Tongchao Li,Kuchuan Chen,Upasana Gala,Tamar Harel,Davut Pehlivan,Samantha Penney,Lisenka E.L.M. Vissers,Joep de Ligt,Shalini N. Jhangiani,Yajing Xie,Stephen H. Tsang,Yesim Parman,Merve Sivaci,Esra Battaloglu,Donna M. Muzny,Ying Wooi Wan,Zhandong Liu,Alexander T. Lin-Moore,Robin D. Clark,Cynthia J. Curry,Nichole Link,Karen L. Schulze,Eric Boerwinkle,William B. Dobyns,William B. Dobyns,Rando Allikmets,Richard A. Gibbs,Rui Chen,James R. Lupski,Michael F. Wangler,Hugo J. Bellen +44 more
TL;DR: A mosaic genetic screen of lethal mutations on the Drosophila X chromosome is conducted to identify genes required for the development, function, and maintenance of the nervous system and to provide insights into microcephaly associated with brain dysgenesis.
Journal ArticleDOI
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Levi B. Watkin,Birthe Jessen,Wojciech Wiszniewski,Timothy J. Vece,Max Jan,Youbao Sha,Maike Thamsen,Regie Lyn P. Santos-Cortez,Kwanghyuk Lee,Tomasz Gambin,Lisa R. Forbes,Christopher S. Law,Asbjørg Stray-Pedersen,Mickie H. Cheng,Emily M. Mace,Mark S. Anderson,Dongfang Liu,Ling Fung Tang,Sarah K. Nicholas,Karen Nahmod,George Makedonas,Debra Canter,Pui-Yan Kwok,John Hicks,Kirk D. Jones,Samantha Penney,Shalini N. Jhangiani,Michael Rosenblum,Sharon D. Dell,Michael Waterfield,Feroz R. Papa,Donna M. Muzny,Noah Zaitlen,Suzanne M. Leal,Claudia Gonzaga-Jauregui,Eric Boerwinkle,Eric Boerwinkle,N. Tony Eissa,Richard A. Gibbs,James R. Lupski,Jordan S. Orange,Anthony K. Shum +41 more
TL;DR: The findings uncover an unexpected molecular link between a vesicular transport protein and a syndrome of autoimmunity manifested by lung and joint disease.
Journal ArticleDOI
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K. Eldomery,Mohammad K. Eldomery,Zeynep H. Coban-Akdemir,Tamar Harel,Jill A. Rosenfeld,Tomasz Gambin,Tomasz Gambin,Asbjørg Stray-Pedersen,Sébastien Küry,Sandra Mercier,Davor Lessel,Jonas Denecke,Wojciech Wiszniewski,Wojciech Wiszniewski,Samantha Penney,Pengfei Liu,Weimin Bi,Seema R. Lalani,Seema R. Lalani,Christian P. Schaaf,Christian P. Schaaf,Michael F. Wangler,Michael F. Wangler,Carlos A. Bacino,Carlos A. Bacino,Richard Alan Lewis,Richard Alan Lewis,Lorraine Potocki,Lorraine Potocki,Brett H. Graham,Brett H. Graham,John W. Belmont,John W. Belmont,Fernando Scaglia,Fernando Scaglia,Jordan S. Orange,Jordan S. Orange,Shalini N. Jhangiani,Theodore Chiang,Harsha Doddapaneni,Jianhong Hu,Donna M. Muzny,Fan Xia,Arthur L. Beaudet,Eric Boerwinkle,Eric Boerwinkle,Christine M. Eng,Sharon E. Plon,V. Reid Sutton,V. Reid Sutton,Richard A. Gibbs,Richard A. Gibbs,Jennifer E. Posey,Yaping Yang,James R. Lupski +54 more
TL;DR: In this article, the authors designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e., unsolved clinical exomes).
Journal ArticleDOI
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Michael F. Wangler,Claudia Gonzaga-Jauregui,Tomasz Gambin,Tomasz Gambin,Samantha Penney,Timothy J. Moss,Atul R. Chopra,Frank J. Probst,Fan Xia,Yaping Yang,Steven L. Werlin,Ieva Eglite,Liene Kornejeva,Carlos A. Bacino,Dustin Baldridge,Jeffrey L. Neul,Efrat Lev Lehman,Austin Larson,Joke Beuten,Donna M. Muzny,Shalini N. Jhangiani,Richard A. Gibbs,James R. Lupski,Arthur L. Beaudet +23 more
TL;DR: ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease.
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K. Eldomery,Mohammad K. Eldomery,Zeynep H. Coban-Akdemir,Tamar Harel,Jill A. Rosenfeld,Tomasz Gambin,Tomasz Gambin,Asbjørg Stray-Pedersen,Sébastien Küry,Sandra Mercier,Davor Lessel,Jonas Denecke,Wojciech Wiszniewski,Wojciech Wiszniewski,Samantha Penney,Pengfei Liu,Weimin Bi,Seema R. Lalani,Seema R. Lalani,Christian P. Schaaf,Christian P. Schaaf,Michael F. Wangler,Michael F. Wangler,Carlos A. Bacino,Carlos A. Bacino,Richard Alan Lewis,Richard Alan Lewis,Lorraine Potocki,Lorraine Potocki,Brett H. Graham,Brett H. Graham,John W. Belmont,John W. Belmont,Fernando Scaglia,Fernando Scaglia,Jordan S. Orange,Jordan S. Orange,Shalini N. Jhangiani,Theodore Chiang,Harsha Doddapaneni,Jianhong Hu,Donna M. Muzny,Fan Xia,Arthur L. Beaudet,Eric Boerwinkle,Eric Boerwinkle,Christine M. Eng,Sharon E. Plon,V. Reid Sutton,V. Reid Sutton,Richard A. Gibbs,Richard A. Gibbs,Jennifer E. Posey,Yaping Yang,James R. Lupski +54 more
TL;DR: An efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders.