Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 9

Results: 20

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1333, doi. 10.1002/humu.24436

By:

Goudal, Adeline;
Karakachoff, Matilde;
Lindenbaum, Pierre;
Baron, Estelle;
Bonnaud, Stéphanie;
Kyndt, Florence;
Arnaud, Marine;
Minois, Damien;
Bourcereau, Emmanuelle;
Thollet, Aurélie;
Deleuze, Jean‐François;
Genin, Emmanuelle;
Wiart, François;
Pasquié, Jean‐Luc;
Galand, Vincent;
Sacher, Frédéric;
Dina, Christian;
Redon, Richard;
Bezieau, Stéphane;
Schott, Jean‐Jacques

Publication type:

Article

Front Cover, Volume 43, Issue 9.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. i, doi. 10.1002/humu.24447

By:

Liu, Qi;
Iqbal, Muhammad Faaras;
Yaqub, Tahir;
Firyal, Sehrish;
Zhao, Yiqiang;
Stoneking, Mark;
Li, Mingkun

Publication type:

Article

The human ATP‐binding cassette (ABC) transporter superfamily.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1162, doi. 10.1002/humu.24418

By:

Dean, Michael;
Moitra, Karobi;
Allikmets, Rando

Publication type:

Article

Benchmarking of univariate pleiotropy detection methods applied to epilepsy.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1314, doi. 10.1002/humu.24417

By:

Adesoji, Oluyomi M.;
Schulz, Herbert;
May, Patrick;
Krause, Roland;
Lerche, Holger;
Nothnagel, Michael

Publication type:

Article

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1224, doi. 10.1002/humu.24397

By:

Holling, Tess;
Lisfeld, Jasmin;
Johannsen, Jessika;
Matschke, Jakob;
Song, Feizhi;
Altmeppen, Hermann Clemens;
Kutsche, Kerstin

Publication type:

Article

Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1286, doi. 10.1002/humu.24396

By:

Bavan, Selvan;
Goodkin, Howard P.;
Papazian, Diane M.

Publication type:

Article

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1344, doi. 10.1002/humu.24400

By:

Helman, Guy;
Takanohashi, Asako;
Hagemann, Tracy L.;
Perng, Ming D.;
Walkiewicz, Marzena;
Woidill, Sarah;
Sase, Sunetra;
Cross, Zachary;
Du, Yangzhu;
Zhao, Ling;
Waldman, Amy;
Haake, Bret C.;
Fatemi, Ali;
Brenner, Michael;
Sherbini, Omar;
Messing, Albee;
Vanderver, Adeline;
Simons, Cas

Publication type:

Article

MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1201, doi. 10.1002/humu.24399

By:

Giovannetti, Agnese;
Bianco, Salvatore Daniele;
Traversa, Alice;
Panzironi, Noemi;
Bruselles, Alessandro;
Lazzari, Sara;
Liorni, Niccolò;
Tartaglia, Marco;
Carella, Massimo;
Pizzuti, Antonio;
Mazza, Tommaso;
Caputo, Viviana

Publication type:

Article

DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1149, doi. 10.1002/humu.24398

By:

Samani, Adrienne;
English, Katherine G.;
Lopez, Michael A.;
Birch, Camille L.;
Brown, Donna M.;
Kaur, Gurpreet;
Worthey, Elizabeth A.;
Alexander, Matthew S.

Publication type:

Article

Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1234, doi. 10.1002/humu.24415

By:

Borch, Josefine d. S.;
Krag, Thomas;
Holm‐Yildiz, Sonja D.;
Cetin, Hakan;
Solheim, Tuva A.;
Fornander, Freja;
Straub, Volker;
Duno, Morten;
Vissing, John

Publication type:

Article

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1299, doi. 10.1002/humu.24414

By:

Scala, Marcello;
Drouot, Nathalie;
MacLennan, Suzanna C.;
Wessels, Marja W.;
Krygier, Magdalena;
Pavinato, Lisa;
Telegrafi, Aida;
de Man, Stella A.;
van Slegtenhorst, Marjon;
Iacomino, Michele;
Madia, Francesca;
Scudieri, Paolo;
Uva, Paolo;
Giacomini, Thea;
Nobile, Giulia;
Mancardi, Maria Margherita;
Balagura, Ganna;
Galloni, Giovanni Battista;
Verrotti, Alberto;
Umair, Muhammad

Publication type:

Article

EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma.

Published in:

2022

By:

Collantes, Edward Ryan A.;
Delfin, Manuel S.;
Fan, Baojian;
Torregosa, Justine May R.;
Siguan‐Bell, Christine;
Vincent de Guzman Florcruz, Nilo;
Martinez, Jose Maria D.;
Joy Masna‐Hidalgo, Barbara;
Guzman, Vincent Paul T.;
Anotado‐Flores, Jewel Faith;
Levina, Faye D.;
Hernandez, Sophia Raine C.;
Collantes, Anthony A.;
Sibulo, Michael Carreon;
Rong, Shisong;
Wiggs, Janey L.

Publication type:

Correction Notice

Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1216, doi. 10.1002/humu.24393

By:

Lysko, Daniel E.;
Meireles, Ana M.;
Folland, Chiara;
McNamara, Elyshia;
Laing, Nigel G.;
Lamont, Phillipa J.;
Ravenscroft, Gianina;
Talbot, William S.

Publication type:

Article

Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1268, doi. 10.1002/humu.24392

By:

Chiorean, Andreea;
Farncombe, Kirsten M.;
Delong, Sean;
Andric, Veronica;
Ansar, Safa;
Chan, Clarissa;
Clark, Kaitlin;
Danos, Arpad M.;
Gao, Yizhuo;
Giles, Rachel H.;
Goldenberg, Anna;
Jani, Payal;
Krysiak, Kilannin;
Kujan, Lynzey;
Macpherson, Samantha;
Maher, Eamonn R.;
McCoy, Liam G.;
Salama, Yasser;
Saliba, Jason;
Sheta, Lana

Publication type:

Article

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1183, doi. 10.1002/humu.24391

By:

Ralph, Douglas;
Levine, Michael A.;
Richard, Gabriele;
Morrow, Michelle M.;
Flynn, Elizabeth K.;
Uitto, Jouni;
Li, Qiaoli

Publication type:

Article

The transmission of human mitochondrial DNA in four‐generation pedigrees.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1259, doi. 10.1002/humu.24390

By:

Liu, Qi;
Iqbal, Muhammad Faaras;
Yaqub, Tahir;
Firyal, Sehrish;
Zhao, Yiqiang;
Stoneking, Mark;
Li, Mingkun

Publication type:

Article

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1125, doi. 10.1002/humu.24388

By:

Mary, Laura;
Leclerc, Delphine;
Gilot, David;
Belaud‐Rotureau, Marc‐Antoine;
Jaillard, Sylvie

Publication type:

Article

Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1249, doi. 10.1002/humu.24387

By:

Rayner, Emily;
Tiersma, Yvonne;
Fortuno, Cristina;
van Hees‐Stuivenberg, Sandrine;
Drost, Mark;
Thompson, Bryony;
Spurdle, Amanda B.;
de Wind, Niels

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 9, p. 1123, doi. 10.1002/humu.24231
Publication type:: Article

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 9, p. 1239, doi. 10.1002/humu.24384

By:

Coursimault, Juliette;
Rovelet‐Lecrux, Anne;
Cassinari, Kévin;
Brischoux‐Boucher, Elise;
Saugier‐Veber, Pascale;
Goldenberg, Alice;
Lecoquierre, François;
Drouot, Nathalie;
Richard, Anne‐Claire;
Vera, Gabriella;
Coutant, Sophie;
Quenez, Olivier;
Rolain, Marion;
Bonnet, Céline;
Bronner, Myriam;
Lecourtois, Magalie;
Nicolas, Gaël

Publication type:

Article