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
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
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
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
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
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