Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 7

Results: 16

Cover Image, Volume 39, Issue 7.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. i, doi. 10.1002/humu.23558

By:

Tremiño, Lorena;
Forcada‐Nadal, Alicia;
Rubio, Vicente

Publication type:

Article

Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 965, doi. 10.1002/humu.23547

By:

Wagnon, Jacy L.;
Mencacci, Niccolò E.;
Barker, Bryan S.;
Wengert, Eric R.;
Bhatia, Kailash P.;
Balint, Bettina;
Carecchio, Miryam;
Wood, Nicholas W.;
Patel, Manoj K.;
Meisler, Miriam H.

Publication type:

Article

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 959, doi. 10.1002/humu.23546

By:

Stellacci, Emilia;
Steindl, Katharina;
Joset, Pascal;
Mercurio, Laura;
Anselmi, Massimiliano;
Cecchetti, Serena;
Gogoll, Laura;
Zweier, Markus;
Hackenberg, Annette;
Bocchinfuso, Gianfranco;
Stella, Lorenzo;
Tartaglia, Marco;
Rauch, Anita

Publication type:

Article

Novel CASK mutations in cases with syndromic microcephaly.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 993, doi. 10.1002/humu.23536

By:

Cristofoli, Francesca;
Devriendt, Koen;
Davis, Erica E.;
Van Esch, Hilde;
Vermeesch, Joris R.

Publication type:

Article

NGS testing for cardiomyopathy: Utility of adding RASopathy‐associated genes.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 954, doi. 10.1002/humu.23535

By:

Ceyhan‐Birsoy, Ozge;
Miatkowski, Maya M.;
Hynes, Elizabeth;
Funke, Birgit H.;
Mason‐Suares, Heather

Publication type:

Article

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 934, doi. 10.1002/humu.23534

By:

Mignon‐Ravix, Cécile;
Milh, Mathieu;
Kaiser, Charlotte Sophia;
Daniel, Jens;
Riccardi, Florence;
Cacciagli, Pierre;
Nagara, Majdi;
Busa, Tiffany;
Liebau, Eva;
Villard, Laurent

Publication type:

Article

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 970, doi. 10.1002/humu.23531

By:

Tomé, Stéphanie;
Dandelot, Elodie;
Dogan, Céline;
Bertrand, Alexis;
Geneviève, David;
Péréon, Yann;
DM contraction study group;
Simon, Marie;
Bonnefont, Jean‐Paul;
Bassez, Guillaume;
Gourdon, Geneviève

Publication type:

Article

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 939, doi. 10.1002/humu.23537

By:

Grochowski, Christopher M.;
Gu, Shen;
Yuan, Bo;
TCW, Julia;
Brennand, Kristen J.;
Sebat, Jonathan;
Malhotra, Dheeraj;
McCarthy, Shane;
Rudolph, Uwe;
Lindstrand, Anna;
Chong, Zechen;
Levy, Deborah L.;
Lupski, James R.;
Carvalho, Claudia M. B.

Publication type:

Article

Seshat: A Web service for accurate annotation, validation, and analysis of TP53 variants generated by conventional and next‐generation sequencing.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 925, doi. 10.1002/humu.23543

By:

Tikkanen, Tuomas;
Leroy, Bernard;
Fournier, Jean Louis;
Risques, Rosa Ana;
Malcikova, Jitka;
Soussi, Thierry

Publication type:

Article

MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 914, doi. 10.1002/humu.23542

By:

Townend, Gillian S.;
Ehrhart, Friederike;
van Kranen, Henk J.;
Wilkinson, Mark;
Jacobsen, Annika;
Roos, Marco;
Willighagen, Egon L.;
van Enckevort, David;
Evelo, Chris T.;
Curfs, Leopold M. G.

Publication type:

Article

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 1014, doi. 10.1002/humu.23541

By:

Stevens, Servi J. C.;
van der Schoot, Vyne;
Leduc, Magalie S.;
Rinne, Tuula;
Lalani, Seema R.;
Weiss, Marjan M.;
van Hagen, Johanna M.;
Lachmeijer, Augusta M. A.;
CAUSES Study;
Stockler‐Ipsiroglu, Sylvia G.;
Lehman, Anna;
Brunner, Han G.

Publication type:

Article

Insight into vitamin B<sub>6</sub>‐dependent epilepsy due to PLPBP (previously PROSC) missense mutations.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 1002, doi. 10.1002/humu.23540

By:

Tremiño, Lorena;
Forcada‐Nadal, Alicia;
Rubio, Vicente

Publication type:

Article

Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 983, doi. 10.1002/humu.23539

By:

Geoffroy, Véronique;
Stoetzel, Corinne;
Scheidecker, Sophie;
Schaefer, Elise;
Perrault, Isabelle;
Bär, Séverine;
Kröll, Ariane;
Delbarre, Marion;
Antin, Manuela;
Leuvrey, Anne‐Sophie;
Henry, Charline;
Blanché, Hélène;
Decker, Eva;
Kloth, Katja;
Klaus, Günter;
Mache, Christoph;
Martin‐Coignard, Dominique;
McGinn, Steven;
Boland, Anne;
Deleuze, Jean‐François

Publication type:

Article

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 947, doi. 10.1002/humu.23538

By:

van Kuilenburg, André B. P.;
Tarailo‐Graovac, Maja;
Meijer, Judith;
Drogemoller, Britt;
Vockley, Jerry;
Maurer, Dirk;
Dobritzsch, Doreen;
Ross, Colin J.;
Wasserman, Wyeth;
Meinsma, Rutger;
Zoetekouw, Lida;
van Karnebeek, Clara D. M.

Publication type:

Article

MERTK mutation update in inherited retinal diseases.

Published in:

Human Mutation, 2018, v. 39, n. 7, p. 887, doi. 10.1002/humu.23431

By:

Audo, Isabelle;
Mohand‐Said, Saddek;
Boulanger‐Scemama, Elise;
Zanlonghi, Xavier;
Condroyer, Christel;
Démontant, Vanessa;
Boyard, Fiona;
Antonio, Aline;
Méjécase, Cécile;
El Shamieh, Said;
Sahel, José‐Alain;
Zeitz, Christina

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2018, v. 39, n. 7, p. 883, doi. 10.1002/humu.23328
Publication type:: Article