Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 4

Results: 14

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 406, doi. 10.1002/humu.22958

By:

Oetting, William S.;
Brenner, Steven E.;
Brookes, Anthony J.;
Greenblatt, Marc S.;
Hart, Reece K.;
Karchin, Rachel;
Sunyaev, Shamil R.;
Taschner, Peter E.

Publication type:

Article

A Mechanistic Link between L1 Retrotransposition and Chromothripsis.

Published in:

2016

By:

Chen, Jian‐Min;
Cooper, David N.

Publication type:

Other

ECGene: A Literature-Based Knowledgebase of Endometrial Cancer Genes.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 337, doi. 10.1002/humu.22950

By:

Zhao, Min;
Liu, Yining;
O'Mara, Tracy A

Publication type:

Article

VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 344, doi. 10.1002/humu.22954

By:

Schaafsma, Gerard C. P.;
Vihinen, Mauno

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2016, v. 37, n. 4, p. 325, doi. 10.1002/humu.22872
Publication type:: Article

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 359, doi. 10.1002/humu.22960

By:

Filges, Isabel;
Bruder, Elisabeth;
Brandal, Kristin;
Meier, Stephanie;
Undlien, Dag Erik;
Waage, Trine Rygvold;
Hoesli, Irene;
Schubach, Max;
Beer, Tjaart;
Sheng, Ying;
Hoeller, Sylvia;
Schulzke, Sven;
Røsby, Oddveig;
Miny, Peter;
Tercanli, Sevgi;
Oppedal, Truls;
Meyer, Peter;
Selmer, Kaja Kristine;
Strømme, Petter

Publication type:

Article

Cover Image, Volume 37, Issue 4.

Published in:: Human Mutation, 2016, v. 37, n. 4, p. NA, doi. 10.1002/humu.22985
Publication type:: Article

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 371, doi. 10.1002/humu.22948

By:

Ma, Alan S.;
Grigg, John R.;
Ho, Gladys;
Prokudin, Ivan;
Farnsworth, Elizabeth;
Holman, Katherine;
Cheng, Anson;
Billson, Frank A.;
Martin, Frank;
Fraser, Clare;
Mowat, David;
Smith, James;
Christodoulou, John;
Flaherty, Maree;
Bennetts, Bruce;
Jamieson, Robyn V.

Publication type:

Article

Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 350, doi. 10.1002/humu.22949

By:

Shinmura, Kazuya;
Kato, Hisami;
Goto, Masanori;
Yamada, Hidetaka;
Tao, Hong;
Nakamura, Satoki;
Sugimura, Haruhiko

Publication type:

Article

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 331, doi. 10.1002/humu.22956

By:

Moghadasi, Setareh;
Eccles, Diana M.;
Devilee, Peter;
Vreeswijk, Maaike P.G.;
Asperen, Christi J.

Publication type:

Article

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 396, doi. 10.1002/humu.22957

By:

Amirav, Israel;
Wallmeier, Julia;
Loges, Niki T.;
Menchen, Tabea;
Pennekamp, Petra;
Mussaffi, Huda;
Abitbul, Revital;
Avital, Avraham;
Bentur, Lea;
Dougherty, Gerard W.;
Nael, Elias;
Lavie, Moran;
Olbrich, Heike;
Werner, Claudius;
Kintner, Chris;
Omran, Heymut

Publication type:

Article

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 364, doi. 10.1002/humu.22951

By:

Ekong, Rosemary;
Nellist, Mark;
Hoogeveen‐Westerveld, Marianne;
Wentink, Marjolein;
Panzer, Jessica;
Sparagana, Steven;
Emmett, Warren;
Dawson, Natalie L.;
Malinge, Marie Claire;
Nabbout, Rima;
Carbonara, Caterina;
Barberis, Marco;
Padovan, Sergio;
Futema, Marta;
Plagnol, Vincent;
Humphries, Steve E.;
Migone, Nicola;
Povey, Sue

Publication type:

Article

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 354, doi. 10.1002/humu.22952

By:

Isidor, Bertrand;
Küry, Sébastien;
Rosenfeld, Jill A.;
Besnard, Thomas;
Schmitt, Sébastien;
Joss, Shelagh;
Davies, Sally J;
Roger Lebel, Robert;
Henderson, Alex;
Schaaf, Christian P.;
Streff, Haley E.;
Yang, Yaping;
Jain, Vani;
Chida, Nodoka;
Latypova, Xenia;
Caignec, Cédric Le;
Cogné, Benjamin;
Mercier, Sandra;
Vincent, Marie;
Colin, Estelle

Publication type:

Article

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.

Published in:

Human Mutation, 2016, v. 37, n. 4, p. 385, doi. 10.1002/humu.22953

By:

Nazaryan‐Petersen, Lusine;
Bertelsen, Birgitte;
Bak, Mads;
Jønson, Lars;
Tommerup, Niels;
Hancks, Dustin C;
Tümer, Zeynep

Publication type:

Article