Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 1

Results: 15

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 84, doi. 10.1002/humu.22920

By:

Capuano, Alessandra;
Bucciotti, Francesco;
Farwell, Kelly D.;
Tippin Davis, Brigette;
Mroske, Cameron;
Hulick, Peter J.;
Weissman, Scott M.;
Gao, Qingshen;
Spessotto, Paola;
Colombatti, Alfonso;
Doliana, Roberto

Publication type:

Article

The Genome Editing Revolution in Livestock Marches on.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 53, doi. 10.1002/humu.22861

By:

Whitelaw, C. Bruce A.

Publication type:

Article

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 74, doi. 10.1002/humu.22916

By:

Vindas‐Smith, Rebeca;
Fiore, Michele;
Vásquez, Melissa;
Cuenca, Patricia;
del Valle, Gerardo;
Lagostena, Laura;
Gaitán‐Peñas, Héctor;
Estevez, Raúl;
Pusch, Michael;
Morales, Fernando

Publication type:

Article

A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 65, doi. 10.1002/humu.22917

By:

Kamat, Mihir Anant;
Bacolla, Albino;
Cooper, David N;
Chuzhanova, Nadia

Publication type:

Article

Human Mutation Variation, Informatics, and Disease.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 1

By:

COTTON, RICHARD G. H.;
CUTTING, GARRY R.

Publication type:

Article

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 127, doi. 10.1002/humu.22918

By:

Karbassi, Izabela;
Maston, Glenn A.;
Love, Angela;
DiVincenzo, Christina;
Braastad, Corey D.;
Elzinga, Christopher D.;
Bright, Alison R.;
Previte, Domenic;
Zhang, Ke;
Rowland, Charles M.;
McCarthy, Michele;
Lapierre, Jennifer L.;
Dubois, Felicita;
Medeiros, Katelyn A.;
Batish, Sat Dev;
Jones, Jeffrey;
Liaquat, Khalida;
Hoffman, Carol A.;
Jaremko, Malgorzata;
Wang, Zhenyuan

Publication type:

Article

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 119, doi. 10.1002/humu.22912

By:

Tayoun, Ahmad N. Abou;
Mason‐Suares, Heather;
Frisella, Ashley L.;
Bowser, Mark;
Duffy, Elizabeth;
Mahanta, Lisa;
Funke, Birgit;
Rehm, Heidi L.;
Amr, Sami S.

Publication type:

Article

Efficient Generation of Gene-Modified Pigs Harboring Precise Orthologous Human Mutation via CRISPR/Cas9-Induced Homology-Directed Repair in Zygotes.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 110, doi. 10.1002/humu.22913

By:

Zhou, Xiaoyang;
Wang, Lulu;
Du, Yinan;
Xie, Fei;
Li, Liang;
Liu, Yu;
Liu, Chuanhong;
Wang, Shiqiang;
Zhang, Shibing;
Huang, Xingxu;
Wang, Yong;
Wei, Hong

Publication type:

Article

Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 98, doi. 10.1002/humu.22921

By:

Visigalli, Davide;
Castagnola, Patrizio;
Capodivento, Giovanna;
Geroldi, Alessandro;
Bellone, Emilia;
Mancardi, Gianluigi;
Pareyson, Davide;
Schenone, Angelo;
Nobbio, Lucilla

Publication type:

Article

wKinMut-2: Identification and Interpretation of Pathogenic Variants in Human Protein Kinases.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 36, doi. 10.1002/humu.22914

By:

Vazquez, Miguel;
Pons, Tirso;
Brunak, Søren;
Valencia, Alfonso;
Izarzugaza, Jose M.G.

Publication type:

Article

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 16, doi. 10.1002/humu.22919

By:

Cesani, Martina;
Lorioli, Laura;
Grossi, Serena;
Amico, Giulia;
Fumagalli, Francesca;
Spiga, Ivana;
Filocamo, Mirella;
Biffi, Alessandra

Publication type:

Article

Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 52, doi. 10.1002/humu.22909

By:

Bu, Huajie;
Narisu, Narisu;
Schlick, Bettina;
Rainer, Johannes;
Manke, Thomas;
Schäfer, Georg;
Pasqualini, Lorenza;
Chines, Peter;
Schweiger, Michal R.;
Fuchsberger, Christian;
Klocker, Helmut

Publication type:

Article

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 43, doi. 10.1002/humu.22910

By:

Lukas, Jan;
Scalia, Simone;
Eichler, Sabrina;
Pockrandt, Anne‐Marie;
Dehn, Nicole;
Cozma, Claudia;
Giese, Anne‐Katrin;
Rolfs, Arndt

Publication type:

Article

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 28, doi. 10.1002/humu.22911

By:

Douville, Christopher;
Masica, David L.;
Stenson, Peter D.;
Cooper, David N.;
Gygax, Derek M.;
Kim, Rick;
Ryan, Michael;
Karchin, Rachel

Publication type:

Article

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Published in:

Human Mutation, 2016, v. 37, n. 1, p. 7, doi. 10.1002/humu.22915

By:

Barat‐Houari, Mouna;
Sarrabay, Guillaume;
Gatinois, Vincent;
Fabre, Aurélie;
Dumont, Bruno;
Genevieve, David;
Touitou, Isabelle

Publication type:

Article