Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 3

Results: 16

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 235, doi. 10.1002/humu.22932

By:

Liu, Xiaoming;
Wu, Chunlei;
Li, Chang;
Boerwinkle, Eric

Publication type:

Article

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ' PIK3CA-Related Overgrowth Spectrum'.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 242, doi. 10.1002/humu.22933

By:

Di Donato, Nataliya;
Rump, Andreas;
Mirzaa, Ghayda M.;
Alcantara, Diana;
Oliver, Antony;
Schrock, Evelin;
Dobyns, William B.;
O'Driscoll, Mark

Publication type:

Article

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 246, doi. 10.1002/humu.22940

By:

Xu, Mingchu;
Eblimit, Aiden;
Wang, Jing;
Li, Jianli;
Wang, Feng;
Zhao, Li;
Wang, Xia;
Xiao, Ningna;
Li, Yumei;
Wong, Lee‐Jun C.;
Lewis, Richard A.;
Chen, Rui

Publication type:

Article

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 269, doi. 10.1002/humu.22942

By:

Brodehl, Andreas;
Ferrier, Raechel A.;
Hamilton, Sara J.;
Greenway, Steven C.;
Brundler, Marie‐Anne;
Yu, Weiming;
Gibson, William T.;
McKinnon, Margaret L.;
McGillivray, Barbara;
Alvarez, Nanette;
Giuffre, Michael;
Schwartzentruber, Jeremy;
Gerull, Brenda

Publication type:

Article

Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 292, doi. 10.1002/humu.22943

By:

Ghanbari, Mohsen;
Darweesh, Sirwan K.L.;
Looper, Hans W.J.;
Luijn, Marvin M.;
Hofman, Albert;
Ikram, M. Arfan;
Franco, Oscar H.;
Erkeland, Stefan J.;
Dehghan, Abbas

Publication type:

Article

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 231, doi. 10.1002/humu.22944

By:

Campbell, Ian M.;
Gambin, Tomasz;
Jhangiani, Shalini N.;
Grove, Megan L.;
Veeraraghavan, Narayanan;
Muzny, Donna M.;
Shaw, Chad A.;
Gibbs, Richard A.;
Boerwinkle, Eric;
Yu, Fuli;
Lupski, James R.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2016, v. 37, n. 3, p. 225, doi. 10.1002/humu.22869
Publication type:: Article

Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 280, doi. 10.1002/humu.22945

By:

Vautrot, Valentin;
Aigueperse, Christelle;
Oillo‐Blanloeil, Florence;
Hupont, Sébastien;
Stevenin, James;
Branlant, Christiane;
Behm‐Ansmant, Isabelle

Publication type:

Article

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 301, doi. 10.1002/humu.22946

By:

Cohen, Ana S.A.;
Yap, Damian B.;
Lewis, M.E. Suzanne;
Chijiwa, Chieko;
Ramos‐Arroyo, Maria A.;
Tkachenko, Natália;
Milano, Valentina;
Fradin, Mélanie;
McKinnon, Margaret L.;
Townsend, Katelin N.;
Xu, Jieqing;
Allen, M.I.;
Ross, Colin J.D.;
Dobyns, William B.;
Weaver, David D.;
Gibson, William T.

Publication type:

Article

MESP1 Mutations in Patients with Congenital Heart Defects.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 308, doi. 10.1002/humu.22947

By:

Werner, Petra;
Latney, Brande;
Deardorff, Matthew A.;
Goldmuntz, Elizabeth

Publication type:

Article

Cover Image, Volume 37, Issue 3.

Published in:: Human Mutation, 2016, v. 37, n. 3, p. NA, doi. 10.1002/humu.22968
Publication type:: Article

Microdeletions, Rearrangements, and Cancer Susceptibility.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 229, doi. 10.1002/humu.22864

By:

Hodgson, Shirley Victoria

Publication type:

Article

Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 315, doi. 10.1002/humu.22936

By:

Qiao, Wanqiong;
Yang, Yao;
Sebra, Robert;
Mendiratta, Geetu;
Gaedigk, Andrea;
Desnick, Robert J.;
Scott, Stuart A.

Publication type:

Article

Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 324, doi. 10.1002/humu.22937

By:

Mordaunt, Dylan A.;
Savarirayan, Ravi

Publication type:

Article

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 250, doi. 10.1002/humu.22938

By:

Smith, Miriam J.;
Urquhart, Jill E.;
Harkness, Elaine F.;
Miles, Emma K.;
Bowers, Naomi L.;
Byers, Helen J.;
Bulman, Michael;
Gokhale, Carolyn;
Wallace, Andrew J.;
Newman, William G.;
Evans, D. Gareth

Publication type:

Article

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

Published in:

Human Mutation, 2016, v. 37, n. 3, p. 257, doi. 10.1002/humu.22939

By:

Gatz, Susanne A.;
Salles, Daniela;
Jacobsen, Eva‐Maria;
Dörk, Thilo;
Rausch, Tobias;
Aydin, Sevtap;
Surowy, Harald;
Volcic, Meta;
Vogel, Walther;
Debatin, Klaus‐Michael;
Stütz, Adrian M.;
Schwarz, Klaus;
Pannicke, Ulrich;
Hess, Timo;
Korbel, Jan O.;
Schulz, Ansgar S.;
Schumacher, Johannes;
Wiesmüller, Lisa

Publication type:

Article