Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 2

Results: 18

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 512, doi. 10.1002/humu.23948

By:

Duerinckx, Sarah;
Jacquemin, Valérie;
Drunat, Séverine;
Vial, Yoann;
Passemard, Sandrine;
Perazzolo, Camille;
Massart, Annick;
Soblet, Julie;
Racapé, Judith;
Desmyter, Laurence;
Badoer, Cindy;
Papadimitriou, Sofia;
Le Borgne, Yann‐Aël;
Lefort, Anne;
Libert, Frédérick;
De Maertelaer, Viviane;
Rooman, Marianne;
Costagliola, Sabine;
Verloes, Alain;
Lenaerts, Tom

Publication type:

Article

TJP2 hepatobiliary disorders: Novel variants and clinical diversity.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 502, doi. 10.1002/humu.23947

By:

Zhang, Jing;
Liu, Lang‐Li;
Gong, Jing‐Yu;
Hao, Chen‐Zhi;
Qiu, Yi‐Ling;
Lu, Yi;
Feng, Jia‐Yan;
Li, Jia‐Qi;
Li, Zhong‐Die;
Wang, Meng‐Xuan;
Xing, Qing‐He;
Knisely, A. S.;
Wang, Jian‐She

Publication type:

Article

The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 375, doi. 10.1002/humu.23941

By:

Sasorith, Souphatta;
Baux, David;
Bergougnoux, Anne;
Paulet, Damien;
Lahure, Alan;
Bareil, Corinne;
Taulan‐Cadars, Magali;
Roux, Anne‐Françoise;
Koenig, Michel;
Claustres, Mireille;
Raynal, Caroline

Publication type:

Article

Trio‐whole‐exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 432, doi. 10.1002/humu.23935

By:

Guo, Wei;
Lai, Yuchen;
Yan, Zhiqiang;
Wang, Yuqian;
Nie, Yanli;
Guan, Shuo;
Kuo, Ying;
Zhang, Wenxin;
Zhu, Xiaohui;
Peng, Mei;
Zhi, Xu;
Wei, Yuan;
Yan, Liying;
Qiao, Jie

Publication type:

Article

Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 525, doi. 10.1002/humu.23940

By:

Watson, Christopher M.;
Dean, Philip;
Camm, Nick;
Bates, Jennifer;
Carr, Ian M.;
Gardiner, Carol A.;
Bonthron, David T.

Publication type:

Article

Front Cover, Volume 41, Issue 2.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. i, doi. 10.1002/humu.23982

By:

McCullough, Carmel G.;
Szelinger, Szabolcs;
Belnap, Newell;
Ramsey, Keri;
Schrauwen, Isabelle;
Claasen, Ana M.;
Burke, Leah W.;
Siniard, Ashley L.;
Huentelman, Matthew J.;
Narayanan, Vinodh;
Craig, David W.

Publication type:

Article

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 465, doi. 10.1002/humu.23944

By:

Janin, Alexandre;
Chanavat, Valérie;
Rollat‐Farnier, Pierre‐Antoine;
Bardel, Claire;
Nguyen, Karine;
Chevalier, Philippe;
Eicher, Jean‐Christophe;
Faivre, Laurence;
Piard, Juliette;
Albert, Emma;
Nony, Severine;
Millat, Gilles

Publication type:

Article

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 487, doi. 10.1002/humu.23946

By:

Ngo, Kathie J.;
Rexach, Jessica E.;
Lee, Hane;
Petty, Lauren E.;
Perlman, Susan;
Valera, Juliana M.;
Deignan, Joshua L.;
Mao, Yuanming;
Aker, Mamdouh;
Posey, Jennifer E.;
Jhangiani, Shalini N.;
Coban‐Akdemir, Zeynep H.;
Boerwinkle, Eric;
Muzny, Donna;
Nelson, Alexandra B.;
Hassin‐Baer, Sharon;
Poke, Gemma;
Neas, Katherine;
Geschwind, Michael D.;
Grody, Wayne W.

Publication type:

Article

Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 476, doi. 10.1002/humu.23945

By:

Heimer, Gali;
Woerden, Geeske M.;
Barel, Ortal;
Marek‐Yagel, Dina;
Kol, Nitzan;
Munting, Johannes B.;
Borghei, Minoeshka;
Atawneh, Osama M.;
Nissenkorn, Andreea;
Rechavi, Gideon;
Anikster, Yair;
Elgersma, Ype;
Kushner, Steven A.;
Ben Zeev, Bruria

Publication type:

Article

SCN1A variants from bench to bedside—improved clinical prediction from functional characterization.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 363, doi. 10.1002/humu.23943

By:

Brunklaus, Andreas;
Schorge, Stephanie;
Smith, Alexander D.;
Ghanty, Ismael;
Stewart, Kirsty;
Gardiner, Sarah;
Du, Juanjiangmeng;
Pérez‐Palma, Eduardo;
Symonds, Joseph D.;
Collier, Abby C.;
Lal, Dennis;
Zuberi, Sameer M.

Publication type:

Article

The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 387, doi. 10.1002/humu.23942

By:

Lee, In‐Hee;
Negron, Jose A.;
Hernandez‐Ferrer, Carles;
Alvarez, William Jefferson;
Mandl, Kenneth D.;
Kong, Sek Won

Publication type:

Article

Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 412, doi. 10.1002/humu.23939

By:

McCullough, Carmel G.;
Szelinger, Szabolcs;
Belnap, Newell;
Ramsey, Keri;
Schrauwen, Isabelle;
Claasen, Ana M.;
Burke, Leah W.;
Siniard, Ashley L.;
Huentelman, Matthew J.;
Narayanan, Vinodh;
Craig, David W.

Publication type:

Article

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 403, doi. 10.1002/humu.23938

By:

Bryen, Samantha J.;
Ewans, Lisa J.;
Pinner, Jason;
MacLennan, Suzanna C.;
Donkervoort, Sandra;
Castro, Diana;
Töpf, Ana;
O'Grady, Gina;
Cummings, Beryl;
Chao, Katherine R.;
Weisburd, Ben;
Francioli, Laurent;
Faiz, Fathimath;
Bournazos, Adam M.;
Hu, Ying;
Grosmann, Carla;
Malicki, Denise M.;
Doyle, Helen;
Witting, Nanna;
Vissing, John

Publication type:

Article

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 397, doi. 10.1002/humu.23937

By:

Barcia, Giulia;
Rio, Marlène;
Assouline, Zahra;
Zangarelli, Coralie;
Gueguen, Naig;
Dumas, Valerie D.;
Marcorelles, Pascale;
Schiff, Manuel;
Slama, Abdelhamid;
Barth, Magalie;
Hully, Marie;
Lonlay, Pascale;
Munnich, Arnold;
Desguerre, Isabelle;
Bonnefont, Jean‐Paul;
Steffann, Julie;
Procaccio, Vincent;
Boddaert, Nathalie;
Rötig, Agnès;
Metodiev, Metodi D.

Publication type:

Article

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 449, doi. 10.1002/humu.23936

By:

Cheng, Hanyin;
Capponi, Simona;
Wakeling, Emma;
Marchi, Elaine;
Li, Quan;
Zhao, Mengge;
Weng, Chunhua;
Stefan, Piatek G.;
Ahlfors, Helena;
Kleyner, Robert;
Rope, Alan;
Lumaka, Aimé;
Lukusa, Prosper;
Devriendt, Koenraad;
Vermeesch, Joris;
Posey, Jennifer E.;
Palmer, Elizabeth E.;
Murray, Lucinda;
Leon, Eyby;
Diaz, Jullianne

Publication type:

Article

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 420, doi. 10.1002/humu.23932

By:

Ballester‐Lopez, Alfonsina;
Koehorst, Emma;
Almendrote, Miriam;
Martínez‐Piñeiro, Alicia;
Lucente, Giuseppe;
Linares‐Pardo, Ian;
Núñez‐Manchón, Judit;
Guanyabens, Nicolau;
Cano, Antoni;
Lucia, Alejandro;
Overend, Gayle;
Cumming, Sarah A.;
Monckton, Darren G.;
Casadevall, Teresa;
Isern, Irina;
Sánchez‐Ojanguren, Josep;
Planas, Albert;
Rodríguez‐Palmero, Agustí;
Monlleó‐Neila, Laura;
Pintos‐Morell, Guillem

Publication type:

Article

Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 347, doi. 10.1002/humu.23933

By:

Pal, Lipika R.;
Kundu, Kunal;
Yin, Yizhou;
Moult, John

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 2, p. 343, doi. 10.1002/humu.23806
Publication type:: Article