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

Results: 20

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