Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 2

Results: 20

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 232, doi. 10.1002/humu.22730

By:

Sakai, Chika;
Yamaguchi, Seiji;
Sasaki, Masayuki;
Miyamoto, Yusaku;
Matsushima, Yuichi;
Goto, Yu‐ichi

Publication type:

Article

ProKinO: A Unified Resource for Mining the Cancer Kinome.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 175, doi. 10.1002/humu.22726

By:

McSkimming, Daniel Ian;
Dastgheib, Shima;
Talevich, Eric;
Narayanan, Anish;
Katiyar, Samiksha;
Taylor, Susan S.;
Kochut, Krys;
Kannan, Natarajan

Publication type:

Article

Vari SNP, A Benchmark Database for Variations From db SNP.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 161, doi. 10.1002/humu.22727

By:

Schaafsma, Gerard C.P.;
Vihinen, Mauno

Publication type:

Article

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 187, doi. 10.1002/humu.22729

By:

Bacrot, Séverine;
Doyard, Mathilde;
Huber, Céline;
Alibeu, Olivier;
Feldhahn, Niklas;
Lehalle, Daphné;
Lacombe, Didier;
Marlin, Sandrine;
Nitschke, Patrick;
Petit, Florence;
Vazquez, Marie‐Paule;
Munnich, Arnold;
Cormier‐Daire, Valérie

Publication type:

Article

MitImpact: an Exhaustive Collection of Pre-computed Pathogenicity Predictions of Human Mitochondrial Non-synonymous Variants.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. E2413, doi. 10.1002/humu.22720

By:

Castellana, Stefano;
Rónai, Judit;
Mazza, Tommaso

Publication type:

Article

Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 200, doi. 10.1002/humu.22723

By:

Kranenburg, Melissa;
Hoogeveen‐Westerveld, Marianne;
Nellist, Mark

Publication type:

Article

Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 210, doi. 10.1002/humu.22725

By:

Acedo, Alberto;
Hernández‐Moro, Cristina;
Curiel‐García, Álvaro;
Díez‐Gómez, Beatriz;
Velasco, Eladio A.

Publication type:

Article

Shotgun Approach to Functional Annotation of Genes.

Published in:

2015

By:

Tavtigian, Sean V.

Publication type:

Other

Contents.

Published in:: 2015
Publication type:: Other

Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-t RNA Synthetase ( NARS2).

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 222, doi. 10.1002/humu.22728

By:

Vanlander, Arnaud V.;
Menten, Björn;
Smet, Joél;
De Meirleir, Linda;
Sante, Tom;
De Paepe, Boel;
Seneca, Sara;
Pearce, Sarah F.;
Powell, Christopher A.;
Vergult, Sarah;
Michotte, Alex;
De Latter, Elien;
Vantomme, Lies;
Minczuk, Michal;
Coster, Rudy

Publication type:

Article

Identification and Functional Analysis of a SLC33 A1: c.339 T> G (p. Ser113 Arg) Variant in the Original SPG42 Family.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 240, doi. 10.1002/humu.22732

By:

Mao, Fei;
Li, Zhaohui;
Zhao, Baoyue;
Lin, Pengfei;
Liu, Pingting;
Zhai, Meng;
Liu, Qiji;
Shao, Changshun;
Sun, Wenjie;
Gong, Yaoqin

Publication type:

Article

Navigating through Genomics Data to Deliver Testable Predictions.

Published in:

2015

By:

Alexov, Emil

Publication type:

Other

High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 250, doi. 10.1002/humu.22734

By:

Kovac, Michal B.;
Kovacova, Monika;
Bachraty, Hynek;
Bachrata, Katarina;
Piscuoglio, Salvatore;
Hutter, Pierre;
Ilencikova, Denisa;
Bartosova, Zdena;
Tomlinson, Ian;
Roethlisberger, Benno;
Heinimann, Karl

Publication type:

Article

Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 191, doi. 10.1002/humu.22731

By:

Cho, Sung Yoon;
Asharani, P.V.;
Kim, Ok‐Hwa;
Iida, Aritoshi;
Miyake, Noriko;
Matsumoto, Naomichi;
Nishimura, Gen;
Ki, Chang‐Seok;
Hong, Geehay;
Kim, Su Jin;
Sohn, Young Bae;
Park, Sung Won;
Lee, Jieun;
Kwun, Younghee;
Carney, Thomas J.;
Huh, Rimm;
Ikegawa, Shiro;
Jin, Dong‐Kyu

Publication type:

Article

Single Nucleotide Differences (SNDs) Continue to Contaminate the dbSNP Database With Consequences for Human Genomics and Health.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 196, doi. 10.1002/humu.22735

By:

Arthur, Jonathan W.;
Cheung, Florence S.G.;
Reichardt, Juergen K.V.

Publication type:

Article

Genome Annotation by Shotgun Inactivation of a Native Gene in Hemizygous Cells: Application to BRCA2 with Implication of Hypomorphic Variants.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 260, doi. 10.1002/humu.22736

By:

Ghosh, Soma;
Bhunia, Anil K.;
Paun, Bogdan C.;
Gilbert, Samuel F.;
Dhru, Urmil;
Patel, Kalpesh;
Kern, Scott E.

Publication type:

Article

Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 270, doi. 10.1002/humu.22737

By:

Riecken, Lars Björn;
Tawamie, Hasan;
Dornblut, Carsten;
Buchert, Rebecca;
Ismayel, Amina;
Schulz, Alexander;
Schumacher, Johannes;
Sticht, Heinrich;
Pohl, Katja J.;
Cui, Yan;
Reis, André;
Morrison, Helen;
Abou Jamra, Rami

Publication type:

Article

Vanno: A Visualization-Aided Variant Annotation Tool.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 167, doi. 10.1002/humu.22684

By:

Huang, Po‐Jung;
Lee, Chi‐Ching;
Tan, Bertrand Chin‐Ming;
Yeh, Yuan‐Ming;
Huang, Kuo‐Yang;
Gan, Ruei‐Chi;
Chen, Ting‐Wen;
Lee, Cheng‐Yang;
Yang, Sheng‐Ting;
Liao, Chung‐Shou;
Liu, Hsuan;
Tang, Petrus

Publication type:

Article

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 279, doi. 10.1002/humu.22755

By:

Braunholz, Diana;
Obieglo, Carolin;
Parenti, Ilaria;
Pozojevic, Jelena;
Eckhold, Juliane;
Reiz, Benedikt;
Brænne, Ingrid;
Wendt, Kerstin S.;
Watrin, Erwan;
Vodopiutz, Julia;
Rieder, Harald;
Gillessen‐Kaesbach, Gabriele;
Kaiser, Frank J.

Publication type:

Article

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756

By:

Schwartzentruber, Jeremy;
Buhas, Daniela;
Majewski, Jacek;
Sasarman, Florin;
Papillon‐Cavanagh, Simon;
Thiffault, Isabelle;
Sheldon, Katherine M.;
Massicotte, Christine;
Patry, Lysanne;
Simon, Mariella;
Zare, Amir S.;
McKernan, Kevin J.;
Consortium, FORGE Canada;
Michaud, Jacques;
Boles, Richard G.;
Deal, Cheri L.;
Desilets, Valerie;
Shoubridge, Eric A.;
Samuels, Mark E.

Publication type:

Article