Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 5

Results: 13

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 473, doi. 10.1002/humu.22959

By:

Hong, Young Bin;
Kang, Junghee;
Kim, Ji Hyun;
Lee, Jinho;
Kwak, Geon;
Hyun, Young Se;
Nam, Soo Hyun;
Hong, Hyun Dae;
Choi, Yu‐Ri;
Jung, Sung‐Chul;
Koo, Heasoo;
Lee, Ji Eun;
Choi, Byung‐Ok;
Chung, Ki Wha

Publication type:

Article

mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 447, doi. 10.1002/humu.22963

By:

Meyer, Michael J.;
Lapcevic, Ryan;
Romero, Alfonso E.;
Yoon, Mark;
Das, Jishnu;
Beltrán, Juan Felipe;
Mort, Matthew;
Stenson, Peter D.;
Cooper, David N.;
Paccanaro, Alberto;
Yu, Haiyuan

Publication type:

Article

ESHG Plenary Debate 2015: Should Clinical Geneticists have their Genome Sequenced?

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 495, doi. 10.1002/humu.22964

By:

Santen, Gijs W.E.

Publication type:

Article

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 427, doi. 10.1002/humu.22970

By:

Froese, D. Sean;
Huemer, Martina;
Suormala, Terttu;
Burda, Patricie;
Coelho, David;
Guéant, Jean‐Louis;
Landolt, Markus A.;
Kožich, Viktor;
Fowler, Brian;
Baumgartner, Matthias R.

Publication type:

Article

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 439, doi. 10.1002/humu.22965

By:

Salgado, David;
Desvignes, Jean‐Pierre;
Rai, Ghadi;
Blanchard, Arnaud;
Miltgen, Morgane;
Pinard, Amélie;
Lévy, Nicolas;
Collod‐Béroud, Gwenaëlle;
Béroud, Christophe

Publication type:

Article

Cover Image, Volume 37, Issue 5.

Published in:: Human Mutation, 2016, v. 37, n. 5, p. NA, doi. 10.1002/humu.22992
Publication type:: Article

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 465, doi. 10.1002/humu.22962

By:

Donovan, Frank X.;
Kimble, Danielle C.;
Kim, Yonghwan;
Lach, Francis P.;
Harper, Ursula;
Kamat, Aparna;
Jones, MaryPat;
Sanborn, Erica M.;
Tryon, Rebecca;
Wagner, John E.;
MacMillan, Margaret L.;
Ostrander, Elaine A.;
Auerbach, Arleen D.;
Smogorzewska, Agata;
Chandrasekharappa, Settara C.

Publication type:

Article

Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 417, doi. 10.1002/humu.22971

By:

Liu, Qing;
Thompson, Bryony A.;
Ward, Robyn L.;
Hesson, Luke B.;
Sloane, Mathew A.

Publication type:

Article

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 469, doi. 10.1002/humu.22966

By:

Jullien, Laurent;
Kannengiesser, Caroline;
Kermasson, Laetitia;
Cormier‐Daire, Valérie;
Leblanc, Thierry;
Soulier, Jean;
Londono‐Vallejo, Arturo;
Villartay, Jean‐Pierre;
Callebaut, Isabelle;
Revy, Patrick

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2016, v. 37, n. 5, p. 413, doi. 10.1002/humu.22875
Publication type:: Article

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 481, doi. 10.1002/humu.22961

By:

Grati, M'hamed;
Yan, Denise;
Raval, Manmeet H.;
Walsh, Tom;
Ma, Qi;
Chakchouk, Imen;
Kannan‐Sundhari, Abhiraami;
Mittal, Rahul;
Masmoudi, Saber;
Blanton, Susan H.;
Tekin, Mustafa;
King, Mary‐Claire;
Yengo, Christopher M.;
Liu, Xue Zhong

Publication type:

Article

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 488, doi. 10.1002/humu.22967

By:

Smith, Thomas;
Ho, Gladys;
Christodoulou, John;
Price, Elizabeth Ann;
Onadim, Zerrin;
Gauthier‐Villars, Marion;
Dehainault, Catherine;
Houdayer, Claude;
Parfait, Beatrice;
Minkelen, Rick;
Lohman, Dietmar;
Eyre‐Walker, Adam

Publication type:

Article

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.

Published in:

Human Mutation, 2016, v. 37, n. 5, p. 457, doi. 10.1002/humu.22969

By:

Johansson, Lennart F.;
Dijk, Freerk;
Boer, Eddy N.;
Dijk‐Bos, Krista K.;
Jongbloed, Jan D.H.;
der Hout, Annemieke H.;
Westers, Helga;
Sinke, Richard J.;
Swertz, Morris A.;
Sijmons, Rolf H.;
Sikkema‐Raddatz, Birgit

Publication type:

Article