Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 1

Results: 15

Disease‐causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 48, doi. 10.1002/humu.23680

By:

Scalet, Daniela;
Maestri, Iva;
Branchini, Alessio;
Bernardi, Francesco;
Pinotti, Mirko;
Balestra, Dario

Publication type:

Article

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 36, doi. 10.1002/humu.23676

By:

Castellsagué, Ester;
Li, Rui;
Aligue, Rosa;
González, Sara;
Sanz, Judit;
Martin, Edgar;
Velasco, Àngela;
Capellá, Gabriel;
Stewart, Colin J. R.;
Vidal, August;
Majewski, Jacek;
Rivera, Barbara;
Polak, Paz;
Matias‐Guiu, Xavier;
Brunet, Joan;
Foulkes, William D.

Publication type:

Article

Allele balance bias identifies systematic genotyping errors and false disease associations.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 115, doi. 10.1002/humu.23674

By:

Muyas, Francesc;
Bosio, Mattia;
Puig, Anna;
Susak, Hana;
Domènech, Laura;
Escaramis, Georgia;
Zapata, Luis;
Demidov, German;
Estivill, Xavier;
Rabionet, Raquel;
Ossowski, Stephan

Publication type:

Article

Analysis of the TTR gene in the investigation of amyloidosis: A 25‐year single UK center experience.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 90, doi. 10.1002/humu.23669

By:

Rowczenio, Dorota;
Quarta, Candida C.;
Fontana, Marianna;
Whelan, Carol J.;
Martinez‐Naharro, Ana;
Trojer, Hadija;
Baginska, Anna;
Ferguson, Stuart M.;
Gilbertson, Janet;
Rezk, Tamer;
Sachchithanantham, Sajitha;
Mahmood, Shameem;
Manwani, Richa;
Sharpley, Faye;
Wechalekar, Ashutosh D.;
Hawkins, Philip N.;
Gillmore, Julian D.;
Lachmann, Helen J.

Publication type:

Article

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 53, doi. 10.1002/humu.23666

By:

Richard, Elodie M.;
Santos‐Cortez, Regie Lyn P.;
Faridi, Rabia;
Rehman, Atteeq U.;
Lee, Kwanghyuk;
Shahzad, Mohsin;
Acharya, Anushree;
Khan, Asma A.;
Imtiaz, Ayesha;
Chakchouk, Imen;
Takla, Christina;
Abbe, Izoduwa;
Rafeeq, Maria;
Liaqat, Khurram;
Chaudhry, Taimur;
Bamshad, Michael J.;
Nickerson, Deborah A.;
Schrauwen, Isabelle;
Khan, Shaheen N.;
Morell, Robert J.

Publication type:

Article

IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 5, doi. 10.1002/humu.23670

By:

Shoubridge, Cheryl;
Harvey, Robert J.;
Dudding‐Byth, Tracy

Publication type:

Article

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 106, doi. 10.1002/humu.23678

By:

Fortugno, Paola;
Angelucci, Francesco;
Cestra, Gianluca;
Camerota, Letizia;
Ferraro, Angelo Salvatore;
Cordisco, Sonia;
Uccioli, Luigi;
Castiglia, Daniele;
Angelis, Barbara;
Kurth, Ingo;
Kornak, Uwe;
Brancati, Francesco

Publication type:

Article

Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 42, doi. 10.1002/humu.23675

By:

Davids, Mariska;
Markello, Thomas;
Wolfe, Lynne A.;
Chepa‐Lotrea, Xenia;
Tifft, Cynthia J.;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Article

Framework for microRNA variant annotation and prioritization using human population and disease datasets.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 73, doi. 10.1002/humu.23668

By:

Oak, Ninad;
Ghosh, Rajarshi;
Huang, Kuan‐lin;
Wheeler, David A.;
Ding, Li;
Plon, Sharon E.

Publication type:

Article

Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 97, doi. 10.1002/humu.23673

By:

Andrade, Kelvin C.;
Frone, Megan N.;
Wegman‐Ostrosky, Talia;
Khincha, Payal P.;
Kim, Jung;
Amadou, Amina;
Santiago, Karina M.;
Fortes, Fernanda P.;
Lemonnier, Nathanaël;
Mirabello, Lisa;
Stewart, Douglas R.;
Hainaut, Pierre;
Kowalski, Luiz P.;
Savage, Sharon A.;
Achatz, Maria I.

Publication type:

Article

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 31, doi. 10.1002/humu.23671

By:

Vaché, Christel;
Torriano, Simona;
Faugère, Valérie;
Erkilic, Nejla;
Baux, David;
Garcia‐Garcia, Gema;
Hamel, Christian P.;
Meunier, Isabelle;
Zanlonghi, Xavier;
Koenig, Michel;
Kalatzis, Vasiliki;
Roux, Anne‐Françoise

Publication type:

Article

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. 25, doi. 10.1002/humu.23667

By:

Patiño, Liliana C.;
Beau, Isabelle;
Morel, Adrien;
Delemer, Brigitte;
Young, Jacques;
Binart, Nadine;
Laissue, Paul

Publication type:

Article

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Published in:: Human Mutation, 2019, v. 40, n. 1, p. 127, doi. 10.1002/humu.23617
Publication type:: Article

Cover Image, Volume 40, Issue 1.

Published in:

Human Mutation, 2019, v. 40, n. 1, p. i, doi. 10.1002/humu.22891

By:

Oak, Ninad;
Ghosh, Rajarshi;
Huang, Kuan‐lin;
Wheeler, David A.;
Ding, Li;
Plon, Sharon E.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 1, p. 1, doi. 10.1002/humu.23568
Publication type:: Article