Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 11

Results: 21

Truncating mutation in CSNK2B and myoclonic epilepsy.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1611, doi. 10.1002/humu.23307

By:

Sakaguchi, Yuri;
Uehara, Tomoko;
Suzuki, Hisato;
Kosaki, Kenjiro;
Takenouchi, Toshiki

Publication type:

Article

Detection of homozygous deletions in tumor-suppressor genes ranging from dozen to hundreds nucleotides in cancer models.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1449, doi. 10.1002/humu.23308

By:

Chang, Lun‐Ching;
Vural, Suleyman;
Sonkin, Dmitriy

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 11, p. 1445, doi. 10.1002/humu.23106
Publication type:: Article

BOC is a modifier gene in holoprosencephaly.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1464, doi. 10.1002/humu.23286

By:

Hong, Mingi;
Srivastava, Kshitij;
Kim, Sungjin;
Allen, Benjamin L.;
Leahy, Daniel J.;
Hu, Ping;
Roessler, Erich;
Krauss, Robert S.;
Muenke, Maximilian

Publication type:

Article

Implementing pharmacogenomics in modern health care: The 2017 scientific meeting of the Human Genome Variation Society.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1606, doi. 10.1002/humu.23300

By:

Lanting, Pauline;
Oetting, William S.

Publication type:

Article

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1542, doi. 10.1002/humu.23303

By:

Sollis, Elliot;
Deriziotis, Pelagia;
Saitsu, Hirotomo;
Miyake, Noriko;
Matsumoto, Naomichi;
Hoffer, Mariëtte J.V.;
Ruivenkamp, Claudia A.L.;
Alders, Mariëlle;
Okamoto, Nobuhiko;
Bijlsma, Emilia K.;
Plomp, Astrid S.;
Fisher, Simon E.

Publication type:

Article

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1511, doi. 10.1002/humu.23306

By:

Böhringer, Judith;
Santer, René;
Schumacher, Neele;
Gieseke, Friederike;
Cornils, Kerstin;
Pechan, Maria;
Kustermann‐Kuhn, Birgit;
Handgretinger, Rupert;
Schöls, Ludger;
Harzer, Klaus;
Krägeloh‐Mann, Ingeborg;
Müller, Ingo

Publication type:

Article

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1555, doi. 10.1002/humu.23301

By:

Ghosh, Arunabha;
Mercer, Jean;
Mackinnon, Sabrina;
Yue, Wyatt W;
Church, Heather;
Beesley, Clare E;
Broomfield, Alex;
Jones, Simon A;
Tylee, Karen

Publication type:

Article

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1471, doi. 10.1002/humu.23292

By:

Rodriguez‐Zabala, Maria;
Aza‐Carmona, Miriam;
Rivera‐Pedroza, Carlos I.;
Belinchón, Alberta;
Guerrero‐Zapata, Isabel;
Barraza‐García, Jimena;
Vallespin, Elena;
Lu, Min;
del Pozo, Angela;
Glucksman, Marc J.;
Santos‐Simarro, Fernando;
Heath, Karen E.

Publication type:

Article

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294

By:

Soens, Zachry T.;
Branch, Justin;
Wu, Shijing;
Yuan, Zhisheng;
Li, Yumei;
Li, Hui;
Wang, Keqing;
Xu, Mingchu;
Rajan, Lavan;
Motta, Fabiana L.;
Simões, Renata T.;
Lopez‐Solache, Irma;
Ajlan, Radwan;
Birch, David G.;
Zhao, Peiquan;
Porto, Fernanda B.;
Sallum, Juliana;
Koenekoop, Robert K.;
Sui, Ruifang;
Chen, Rui

Publication type:

Article

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1534, doi. 10.1002/humu.23295

By:

Doormaal, Perry T.C.;
Ticozzi, Nicola;
Weishaupt, Jochen H.;
Kenna, Kevin;
Diekstra, Frank P.;
Verde, Federico;
Andersen, Peter M.;
Dekker, Annelot M.;
Tiloca, Cinzia;
Marroquin, Nicolai;
Overste, Daniel J.;
Pensato, Viviana;
Nürnberg, Peter;
Pulit, Sara L.;
Schellevis, Raymond D.;
Calini, Daniela;
Altmüller, Janine;
Francioli, Laurent C.;
Muller, Bernard;
Castellotti, Barbara

Publication type:

Article

Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1569, doi. 10.1002/humu.23309

By:

Li, Li‐Xi;
Liu, Gong‐Lu;
Liu, Zhi‐Jun;
Lu, Cong;
Wu, Zhi‐Ying

Publication type:

Article

Cover Image, Volume 38, Issue 11.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. i, doi. 10.1002/humu.23347

By:

Li, Li‐Xi;
Liu, Gong‐Lu;
Liu, Zhi‐Jun;
Lu, Cong;
Wu, Zhi‐Ying

Publication type:

Article

Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1500, doi. 10.1002/humu.23296

By:

Gao, Wenjie;
Chen, Chong;
Zhou, Taifeng;
Yang, Shulan;
Gao, Bo;
Zhou, Hang;
Lian, Chengjie;
Wu, Zizhao;
Qiu, Xianjian;
Yang, Xiaoming;
Alattar, Esam;
Liu, Wentao;
Su, Deying;
Sun, Silong;
Chen, Yulan;
Cheung, Kenneth M. C.;
Song, Youqiang;
Luk, Keith K. D.;
Chan, Danny;
Sham, Pak Chung

Publication type:

Article

Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297

By:

Wambach, Jennifer A.;
Stettner, Georg M.;
Haack, Tobias B.;
Writzl, Karin;
Škofljanec, Andreja;
Maver, Aleš;
Munell, Francina;
Ossowski, Stephan;
Bosio, Mattia;
Wegner, Daniel J.;
Shinawi, Marwan;
Baldridge, Dustin;
Alhaddad, Bader;
Strom, Tim M.;
Grange, Dorothy K.;
Wilichowski, Ekkehard;
Troxell, Robin;
Collins, James;
Warner, Barbara B.;
Schmidt, Robert E.

Publication type:

Article

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1491, doi. 10.1002/humu.23291

By:

Wang, Nan;
Zhang, Yeting;
Gedvilaite, Erika;
Loh, Jui Wan;
Lin, Timothy;
Liu, Xiuping;
Liu, Chang‐Gong;
Kumar, Dibyendu;
Donnelly, Robert;
Raymond, Kimiyo;
Schuchman, Edward H.;
Sleat, David E.;
Lobel, Peter;
Xing, Jinchuan

Publication type:

Article

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1485, doi. 10.1002/humu.23299

By:

Hendee, Kathryn;
Wang, Lauren Weiping;
Reis, Linda M.;
Rice, Gregory M.;
Apte, Suneel S.;
Semina, Elena V.

Publication type:

Article

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1579, doi. 10.1002/humu.23311

By:

Mayer, Anja K.;
Cauwenbergh, Caroline;
Rother, Christine;
Baumann, Britta;
Reuter, Peggy;
Baere, Elfride;
Wissinger, Bernd;
Kohl, Susanne

Publication type:

Article

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1592, doi. 10.1002/humu.23312

By:

Oud, Manon S.;
Ramos, Liliana;
O'Bryan, Moira K.;
McLachlan, Robert I.;
Okutman, Özlem;
Viville, Stephane;
Vries, Petra F.;
Smeets, Dominique F.C.M.;
Lugtenberg, Dorien;
Hehir‐Kwa, Jayne Y.;
Gilissen, Christian;
de Vorst, Maartje;
Vissers, Lisenka E.L.M.;
Hoischen, Alexander;
Meijerink, Aukje M.;
Fleischer, Kathrin;
Veltman, Joris A.;
Noordam, Michiel J.

Publication type:

Article

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1454, doi. 10.1002/humu.23313

By:

Wiel, Laurens;
Venselaar, Hanka;
Veltman, Joris A.;
Vriend, Gert;
Gilissen, Christian

Publication type:

Article

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.

Published in:

Human Mutation, 2017, v. 38, n. 11, p. 1613, doi. 10.1002/humu.23316

By:

Schaafsma, Gerard C. P.;
Vihinen, Mauno

Publication type:

Article