Works matching IS 10597794 AND DT 2018 AND VI 39 AND IP 9

Results: 16

Back Cover, Volume 39, Issue 9.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. ii, doi. 10.1002/humu.23618

By:

Montalban, Gemma;
Fraile‐Bethencourt, Eugenia;
López‐Perolio, Irene;
Pérez‐Segura, Pedro;
Infante, Mar;
Durán, Mercedes;
Alonso‐Cerezo, María Concepción;
López‐Fernández, Adrià;
Diez, Orland;
de la Hoya, Miguel;
Velasco, Eladio A.;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Cover Image, Volume 39, Issue 9.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. i, doi. 10.1002/humu.23600

By:

Wang, Richard T.;
Barthelemy, Florian;
Martin, Ann S.;
Douine, Emilie D.;
Eskin, Ascia;
Lucas, Ann;
Lavigne, Jenifer;
Peay, Holly;
Khanlou, Negar;
Sweeney, Lee;
Cantor, Rita M.;
Miceli, M. Carrie;
Nelson, Stanley F.

Publication type:

Article

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1155, doi. 10.1002/humu.23583

By:

Montalban, Gemma;
Fraile‐Bethencourt, Eugenia;
López‐Perolio, Irene;
Pérez‐Segura, Pedro;
Infante, Mar;
Durán, Mercedes;
Alonso‐Cerezo, María Concepción;
López‐Fernández, Adrià;
Diez, Orland;
de la Hoya, Miguel;
Velasco, Eladio A.;
Gutiérrez‐Enríquez, Sara

Publication type:

Article

Erratum.

Published in:: Human Mutation, 2018, v. 39, n. 9, p. 1299, doi. 10.1002/humu.23582
Publication type:: Article

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581

By:

Altamura, Concetta;
Lucchiari, Sabrina;
Sahbani, Dalila;
Ulzi, Gianna;
Comi, Giacomo P.;
D'Ambrosio, Paola;
Petillo, Roberta;
Politano, Luisa;
Vercelli, Liliana;
Mongini, Tiziana;
Dotti, Maria Teresa;
Cardani, Rosanna;
Meola, Giovanni;
Lo Monaco, Mauro;
Matthews, Emma;
Hanna, Michael G.;
Carratù, Maria Rosaria;
Conte, Diana;
Imbrici, Paola;
Desaphy, Jean‐François

Publication type:

Article

Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1262, doi. 10.1002/humu.23580

By:

Höijer, Ida;
Tsai, Yu‐Chih;
Clark, Tyson A.;
Kotturi, Paul;
Dahl, Niklas;
Stattin, Eva‐Lena;
Bondeson, Marie‐Louise;
Feuk, Lars;
Gyllensten, Ulf;
Ameur, Adam

Publication type:

Article

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1246, doi. 10.1002/humu.23567

By:

Meester, Josephina A. N.;
Sukalo, Maja;
Schröder, Kim C.;
Schanze, Denny;
Baynam, Gareth;
Borck, Guntram;
Bramswig, Nuria C.;
Duman, Duygu;
Gilbert‐Dussardier, Brigitte;
Holder‐Espinasse, Muriel;
Itin, Peter;
Johnson, Diana S.;
Joss, Shelagh;
Koillinen, Hannele;
McKenzie, Fiona;
Morton, Jenny;
Nelle, Heike;
Reardon, Willie;
Roll, Claudia;
Salih, Mustafa A.

Publication type:

Article

Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1238, doi. 10.1002/humu.23566

By:

Deng, Yanhan;
Li, Zongzhe;
Liu, Juan;
Wang, Zheng;
Cao, Yanyan;
Mou, Yong;
Fu, Bohua;
Mo, Biwen;
Wei, Jianghong;
Cheng, Zhenshun;
Luo, Liman;
Li, Jingping;
Shu, Ying;
Wang, Xiaomei;
Luo, Guangwei;
Yang, Shuo;
Wang, Yingnan;
Zhu, Jing;
Yang, Jingping;
Wu, Ming

Publication type:

Article

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565

By:

Overwater, Eline;
Marsili, Luisa;
Baars, Marieke J. H.;
Baas, Annette F.;
van de Beek, Irma;
Dulfer, Eelco;
van Hagen, Johanna M.;
Hilhorst‐Hofstee, Yvonne;
Kempers, Marlies;
Krapels, Ingrid P.;
Menke, Leonie A.;
Verhagen, Judith M. A.;
Yeung, Kak K.;
Zwijnenburg, Petra J. G.;
Groenink, Maarten;
van Rijn, Peter;
Weiss, Marjan M.;
Voorhoeve, Els;
van Tintelen, J. Peter;
Houweling, Arjan C.

Publication type:

Article

Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1214, doi. 10.1002/humu.23564

By:

Mur, Pilar;
Jemth, Ann‐Sofie;
Bevc, Luka;
Amaral, Nuno;
Navarro, Matilde;
Valdés‐Mas, Rafael;
Pons, Tirso;
Aiza, Gemma;
Urioste, Miguel;
Valencia, Alfonso;
Lázaro, Conxi;
Moreno, Victor;
Puente, Xose S.;
Stenmark, Pål;
Warpman‐Berglund, Ulrika;
Capellá, Gabriel;
Helleday, Thomas;
Valle, Laura

Publication type:

Article

Further delineation of Malan syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1226, doi. 10.1002/humu.23563

By:

Priolo, Manuela;
Schanze, Denny;
Tatton‐Brown, Katrin;
Mulder, Paul A.;
Tenorio, Jair;
Kooblall, Kreepa;
Acero, Inés Hernández;
Alkuraya, Fowzan S.;
Arias, Pedro;
Bernardini, Laura;
Bijlsma, Emilia K.;
Cole, Trevor;
Coubes, Christine;
Dapia, Irene;
Davies, Sally;
Di Donato, Nataliya;
Elcioglu, Nursel H.;
Fahrner, Jill A.;
Foster, Alison;
González, Noelia García

Publication type:

Article

Real‐world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha‐1‐antitrypsin deficiency.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1203, doi. 10.1002/humu.23562

By:

Giacopuzzi, Edoardo;
Laffranchi, Mattia;
Berardelli, Romina;
Ravasio, Viola;
Ferrarotti, Ilaria;
Gooptu, Bibek;
Borsani, Giuseppe;
Fra, Annamaria

Publication type:

Article

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1193, doi. 10.1002/humu.23561

By:

Wang, Richard T.;
Barthelemy, Florian;
Martin, Ann S.;
Douine, Emilie D.;
Eskin, Ascia;
Lucas, Ann;
Lavigne, Jenifer;
Peay, Holly;
Khanlou, Negar;
Sweeney, Lee;
Cantor, Rita M.;
Miceli, M. Carrie;
Nelson, Stanley F.

Publication type:

Article

Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1284, doi. 10.1002/humu.23560

By:

Karakaya, Mert;
Storbeck, Markus;
Strathmann, Eike A.;
Delle Vedove, Andrea;
Hölker, Irmgard;
Altmueller, Janine;
Naghiyeva, Leyla;
Schmitz‐Steinkrüger, Lea;
Vezyroglou, Katharina;
Motameny, Susanne;
Alawbathani, Salem;
Thiele, Holger;
Polat, Ayse Ipek;
Okur, Derya;
Boostani, Reza;
Karimiani, Ehsan Ghayoor;
Wunderlich, Gilbert;
Ardicli, Didem;
Topaloglu, Haluk;
Kirschner, Janbernd

Publication type:

Article

De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1161, doi. 10.1002/humu.23559

By:

Kiselev, Artem;
Vaz, Raquel;
Knyazeva, Anastasia;
Khudiakov, Aleksandr;
Tarnovskaya, Svetlana;
Liu, Jiao;
Sergushichev, Alexey;
Kazakov, Sergey;
Frishman, Dmitrij;
Smolina, Natalia;
Pervunina, Tatiana;
Jorholt, John;
Sjoberg, Gunnar;
Vershinina, Tatiana;
Rudenko, Dmitriy;
Arner, Anders;
Sejersen, Thomas;
Lindstrand, Anna;
Kostareva, Anna

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2018, v. 39, n. 9, p. 1151, doi. 10.1002/humu.23330
Publication type:: Article