Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 10

Results: 13

Front Cover, Volume 43, Issue 10.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. i, doi. 10.1002/humu.24464

By:

Lin, Sheng‐Jia;
Vona, Barbara;
Porter, Hillary M.;
Izadi, Mahmoud;
Huang, Kevin;
Lacassie, Yves;
Rosenfeld, Jill A.;
Khan, Saadullah;
Petree, Cassidy;
Ali, Tayyiba A.;
Muhammad, Nazif;
Khan, Sher A.;
Muhammad, Noor;
Liu, Pengfei;
Haymon, Marie‐Louise;
Rüschendorf, Franz;
Kong, Il‐Keun;
Schnapp, Linda;
Shur, Natasha;
Chorich, Lynn

Publication type:

Article

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1472, doi. 10.1002/humu.24435

By:

Lin, Sheng‐Jia;
Vona, Barbara;
Porter, Hillary M.;
Izadi, Mahmoud;
Huang, Kevin;
Lacassie, Yves;
Rosenfeld, Jill A.;
Khan, Saadullah;
Petree, Cassidy;
Ali, Tayyiba A.;
Muhammad, Nazif;
Khan, Sher A.;
Muhammad, Noor;
Liu, Pengfei;
Haymon, Marie‐Louise;
Rüschendorf, Franz;
Kong, Il‐Keun;
Schnapp, Linda;
Shur, Natasha;
Chorich, Lynn

Publication type:

Article

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1443, doi. 10.1002/humu.24432

By:

Tucker, Elena J.;
Gutfreund, Niklas;
Belaud‐Rotureau, Marc‐Antoine;
Gilot, David;
Brun, Tiffany;
Kline, Brianna L.;
Bell, Katrina M.;
Domin‐Bernhard, Mathilde;
Théard, Camille;
Touraine, Philippe;
Robevska, Gorjana;
van van den Bergen, Jocelyn;
Ayers, Katie L.;
Sinclair, Andrew H.;
Dötsch, Volker;
Jaillard, Sylvie

Publication type:

Article

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1430, doi. 10.1002/humu.24431

By:

Segovia‐Falquina, Cristina;
Vilas, Alicia;
Leal, Fátima;
del Caño‐Ochoa, Francisco;
Kirk, Edwin P.;
Ugarte, Magdalena;
Ramón‐Maiques, Santiago;
Gámez, Alejandra;
Pérez, Belén

Publication type:

Article

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430

By:

Bögershausen, Nina;
Krawczyk, Hannah E.;
Jamra, Rami A.;
Lin, Sheng‐Jia;
Yigit, Gökhan;
Hüning, Irina;
Polo, Anna M.;
Vona, Barbara;
Huang, Kevin;
Schmidt, Julia;
Altmüller, Janine;
Luppe, Johannes;
Platzer, Konrad;
Dörgeloh, Beate B.;
Busche, Andreas;
Biskup, Saskia;
Mendes, Marisa I.;
Smith, Desiree E. C.;
Salomons, Gajja S.;
Zibat, Arne

Publication type:

Article

Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1408, doi. 10.1002/humu.24428

By:

Das, Santanu;
Mohammed, Ameena;
Mandal, Taniya;
Maji, Saptarshi;
Verma, Jay;
Ruturaj;
Gupta, Arnab

Publication type:

Article

Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1396, doi. 10.1002/humu.24427

By:

Xia, Bing;
Biswas, Kajal;
Foo, Tzeh K.;
Gomes, Thiago T.;
Riedel‐Topper, Maximilian;
Southon, Eileen;
Kang, Zhihua;
Huo, Yanying;
Reid, Susan;
Stauffer, Stacey;
Zhou, Weiyin;
Zhu, Bin;
Koka, Hela;
Yepes, Sally;
Brodie, Seth A.;
Jones, Kristine;
Vogt, Aurelie;
Carter, Brian;
Freedman, Neal D.;
Hicks, Belynda

Publication type:

Article

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1361, doi. 10.1002/humu.24426

By:

Rodríguez‐García, María Elena;
Cotrina‐Vinagre, Francisco Javier;
Bellusci, Marcello;
Hernández‐Sánchez, Laura;
de Aragón, Ana Martínez;
López‐Laso, Eduardo;
Martín‐Hernández, Elena;
Martínez‐Azorín, Francisco

Publication type:

Article

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1377, doi. 10.1002/humu.24425

By:

van Woerden, Geeske M.;
Senden, Richelle;
de Konink, Charlotte;
Trezza, Rossella A.;
Baban, Anwar;
Bassetti, Jennifer A.;
van Bever, Yolande;
Bird, Lynne M.;
van Bon, Bregje W.;
Brooks, Alice S.;
Guan, Qiaoning;
Klee, Eric W.;
Marcelis, Carlo;
Rosado, Joel M.;
Schimmenti, Lisa A.;
Shikany, Amy R.;
Terhal, Paulien A.;
Nicole Weaver, Kathryn;
Wessels, Marja W.;
van Wieringen, Hester

Publication type:

Article

Screening of potential novel candidate genes in schwannomatosis patients.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1368, doi. 10.1002/humu.24424

By:

Perez‐Becerril, Cristina;
Wallace, Andrew J.;
Schlecht, Helene;
Bowers, Naomi L.;
Smith, Philip T.;
Gokhale, Carolyn;
Eaton, Helen;
Charlton, Chris;
Robinson, Rachel;
Charlton, Ruth S.;
Evans, D. Gareth;
Smith, Miriam J.

Publication type:

Article

Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1354, doi. 10.1002/humu.24423

By:

Stella, Alessandro;
Lastella, Patrizia;
Viggiano, Luigi;
Bagnulo, Rosanna;
Resta, Nicoletta

Publication type:

Article

CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related.

Published in:

Human Mutation, 2022, v. 43, n. 10, p. 1347, doi. 10.1002/humu.24421

By:

Mroczek, Magdalena;
Inashkina, Inna;
Stavusis, Janis;
Zayakin, Pawel;
Khrunin, Andrey;
Micule, Ieva;
Kenina, Victorija;
Zdanovica, Anna;
Zídková, Jana;
Fajkusová, Lenka;
Limborska, Svetlana;
van der Kooi, Anneke J.;
Brusse, Esther;
Leonardis, Lea;
Maver, Ales;
Pajusalu, Sander;
Õunap, Katrin;
Puusepp, Sanna;
Dobosz, Paula;
Sypniewski, Mateusz

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 10, p. 1345, doi. 10.1002/humu.24232
Publication type:: Article