Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 10

Results: 20

New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1421, doi. 10.1002/humu.23285

By:

Xia, Wenjun;
Hu, Jiongjiong;
Liu, Fei;
Ma, Jing;
Sun, Shaoyang;
Zhang, Jin;
Jin, Kaiyue;
Huang, Jianbo;
Jiang, Nan;
Wang, Xu;
Li, Wen;
Ma, Zhaoxin;
Ma, Duan

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 10, p. 1277, doi. 10.1002/humu.23103
Publication type:: Article

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287

By:

Oprescu, Stephanie N.;
Chepa‐Lotrea, Xenia;
Takase, Ryuichi;
Golas, Gretchen;
Markello, Thomas C.;
Adams, David R.;
Toro, Camilo;
Gropman, Andrea L.;
Hou, Ya‐Ming;
Malicdan, May Christine V.;
Gahl, William A.;
Tifft, Cynthia J.;
Antonellis, Anthony

Publication type:

Article

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1372, doi. 10.1002/humu.23288

By:

Chen, Hannah Jinlian;
Romigh, Todd;
Sesock, Kaitlin;
Eng, Charis

Publication type:

Article

Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1402, doi. 10.1002/humu.23271

By:

Boer, Martin;
Leeuwen, Karin;
Geissler, Judy;
Alphen, Floris;
Vries, Esther;
der Kuip, Martijn;
Terheggen, Suzanne W.J.;
Janssen, Hans;
den Berg, Timo K.;
Meijer, Alexander B.;
Roos, Dirk;
Kuijpers, Taco W.

Publication type:

Article

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1355, doi. 10.1002/humu.23274

By:

Grandin, Virginie;
Sepulveda, Fernando E;
Lambert, Nathalie;
Al Zahrani, Mofareh;
Al Idrissi, Eman;
Al‐Mousa, Hamoud;
Almanjomi, Fahd;
Al‐Ghonaium, Abdulaziz;
K. Habazi, Murad;
A. Alghamdi, Hamza;
Picard, Capucine;
Bole‐Feysot, Christine;
Nitschke, Patrick;
Ménasché, Gaël;
Saint Basile, Geneviève

Publication type:

Article

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1297, doi. 10.1002/humu.23276

By:

Claustres, Mireille;
Thèze, Corinne;
des Georges, Marie;
Baux, David;
Girodon, Emmanuelle;
Bienvenu, Thierry;
Audrezet, Marie‐Pierre;
Dugueperoux, Ingrid;
Férec, Claude;
Lalau, Guy;
Pagin, Adrien;
Kitzis, Alain;
Thoreau, Vincent;
Gaston, Véronique;
Bieth, Eric;
Malinge, Marie‐Claire;
Reboul, Marie‐Pierre;
Fergelot, Patricia;
Lemonnier, Lydie;
Mekki, Chadia

Publication type:

Article

Semi-automated cancer genome analysis using high-performance computing.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1325, doi. 10.1002/humu.23275

By:

Crispatzu, Giuliano;
Kulkarni, Pranav;
Toliat, Mohammad R.;
Nürnberg, Peter;
Herling, Marco;
Herling, Carmen D.;
Frommolt, Peter

Publication type:

Article

'Matching' consent to purpose: The example of the Matchmaker Exchange.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1281, doi. 10.1002/humu.23278

By:

Dyke, Stephanie O. M.;
Knoppers, Bartha M.;
Hamosh, Ada;
Firth, Helen V.;
Hurles, Matthew;
Brudno, Michael;
Boycott, Kym M.;
Philippakis, Anthony A.;
Rehm, Heidi L.

Publication type:

Article

MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1316, doi. 10.1002/humu.23277

By:

Moulinier, Luc;
Ripp, Raymond;
Castillo, Gaston;
Poch, Olivier;
Sissler, Marie

Publication type:

Article

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1442, doi. 10.1002/humu.23289

By:

Laver, Thomas W;
Weedon, Michael N;
Caswell, Richard;
Hussain, Khalid;
Ellard, Sian;
Flanagan, Sarah E

Publication type:

Article

Cover Image, Volume 38, Issue 10.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317

By:

Oprescu, Stephanie N.;
Chepa‐Lotrea, Xenia;
Takase, Ryuichi;
Golas, Gretchen;
Markello, Thomas C.;
Adams, David R.;
Toro, Camilo;
Gropman, Andrea L.;
Hou, Ya‐Ming;
Malicdan, May Christine V.;
Gahl, William A.;
Tifft, Cynthia J.;
Antonellis, Anthony

Publication type:

Article

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1394, doi. 10.1002/humu.23268

By:

Zhao, Jin James;
Halvardson, Jonatan;
Knaus, Alexej;
Georgii‐Hemming, Patrik;
Baeck, Peter;
Krawitz, Peter M.;
Thuresson, Ann‐Charlotte;
Feuk, Lars

Publication type:

Article

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1360, doi. 10.1002/humu.23281

By:

Bernkopf, Marie;
Hunt, David;
Koelling, Nils;
Morgan, Tim;
Collins, Amanda L.;
Fairhurst, Joanna;
Robertson, Stephen P.;
Douglas, Andrew G. L.;
Goriely, Anne

Publication type:

Article

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282

By:

Marom, Ronit;
Jain, Mahim;
Burrage, Lindsay C.;
Song, I‐Wen;
Graham, Brett H.;
Brown, Chester W.;
Stevens, Servi J.C.;
Stegmann, Alexander P.A.;
Gunter, Andrew T.;
Kaplan, Julie D.;
Gavrilova, Ralitza H.;
Shinawi, Marwan;
Rosenfeld, Jill A.;
Bae, Yangjin;
Tran, Alyssa A.;
Chen, Yuqing;
Lu, James T.;
Gibbs, Richard A.;
Eng, Christine;
Yang, Yaping

Publication type:

Article

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1336, doi. 10.1002/humu.23283

By:

Livingstone, Mark;
Folkman, Lukas;
Yang, Yuedong;
Zhang, Ping;
Mort, Matthew;
Cooper, David N.;
Liu, Yunlong;
Stantic, Bela;
Zhou, Yaoqi

Publication type:

Article

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1286, doi. 10.1002/humu.23302

By:

de Vosse, Esther;
Dissel, Jaap T.

Publication type:

Article

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1348, doi. 10.1002/humu.23250

By:

Nakayama, Tojo;
Wu, Jiang;
Galvin‐Parton, Patricia;
Weiss, Jody;
Andriola, Mary R.;
Hill, R. Sean;
Vaughan, Dylan J.;
El‐Quessny, Malak;
Barry, Brenda J.;
Partlow, Jennifer N.;
Barkovich, A. James;
Ling, Jiqiang;
Mochida, Ganeshwaran H.

Publication type:

Article

Mapping genotype-phenotype associations of nsSNPs in coiled-coil oligomerization domains of the human proteome.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1378, doi. 10.1002/humu.23252

By:

Mohanasundaram, Kaavya A;
Grover, Mani P;
Crowley, Tamsyn M;
Goscinski, Andrzej;
Wouters, Merridee A

Publication type:

Article

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Published in:

Human Mutation, 2017, v. 38, n. 10, p. 1432, doi. 10.1002/humu.23304

By:

Nguyen, Karine;
Puppo, Francesca;
Roche, Stéphane;
Gaillard, Marie‐Cécile;
Chaix, Charlène;
Lagarde, Arnaud;
Pierret, Marjorie;
Vovan, Catherine;
Olschwang, Sylviane;
Salort‐Campana, Emmanuelle;
Attarian, Shahram;
Bartoli, Marc;
Bernard, Rafaëlle;
Magdinier, Frédérique;
Levy, Nicolas

Publication type:

Article