Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 12

Results: 54
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    KBTBD13 is a novel cardiomyopathy gene.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1860, doi. 10.1002/humu.24499
    By:
    • de Winter, Josine M.;
    • Bouman, Karlijn;
    • Strom, Joshua;
    • Methawasin, Mei;
    • Jongbloed, Jan D. H.;
    • van der Roest, Wilma;
    • Wijngaarden, Jan van;
    • Timmermans, Janneke;
    • Nijveldt, Robin;
    • van den Heuvel, Frederik;
    • Kamsteeg, Erik‐Jan;
    • van Engelen, Baziel G.;
    • Galli, Ricardo;
    • Bogaards, Sylvia J. P.;
    • Boon, Reinier A.;
    • van der Pijl, Robbert J.;
    • Granzier, Henk;
    • Koeleman, Bobby;
    • Amin, Ahmad S.;
    • van der Velden, Jolanda
    Publication type:
    Article
    3

    The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1872, doi. 10.1002/humu.24498
    By:
    • Szeri, Flora;
    • Miko, Agnes;
    • Navasiolava, Nastassia;
    • Kaposi, Ambrus;
    • Verschuere, Shana;
    • Molnar, Beatrix;
    • Li, Qiaoli;
    • Terry, Sharon F.;
    • Boraldi, Federica;
    • Uitto, Jouni;
    • van de Wetering, Koen;
    • Martin, Ludovic;
    • Quaglino, Daniela;
    • Vanakker, Olivier M.;
    • Tory, Kalman;
    • Aranyi, Tamas
    Publication type:
    Article
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    Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492
    By:
    • Suga, Akiko;
    • Yoshitake, Kazutoshi;
    • Minematsu, Naoko;
    • Tsunoda, Kazushige;
    • Fujinami, Kaoru;
    • Miyake, Yozo;
    • Kuniyoshi, Kazuki;
    • Hayashi, Takaaki;
    • Mizobuchi, Kei;
    • Ueno, Shinji;
    • Terasaki, Hiroko;
    • Kominami, Taro;
    • Nao‐I, Nobuhisa;
    • Mawatari, Go;
    • Mizota, Atsushi;
    • Shinoda, Kei;
    • Kondo, Mineo;
    • Kato, Kumiko;
    • Sekiryu, Tetsuju;
    • Nakamura, Makoto
    Publication type:
    Article
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    Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2234, doi. 10.1002/humu.24489
    By:
    • Hitti‐Malin, Rebekkah J.;
    • Dhaenens, Claire‐Marie;
    • Panneman, Daan M.;
    • Corradi, Zelia;
    • Khan, Mubeen;
    • den Hollander, Anneke I.;
    • Farrar, G. Jane;
    • Gilissen, Christian;
    • Hoischen, Alexander;
    • van de Vorst, Maartje;
    • Bults, Femke;
    • Boonen, Erica G. M.;
    • Saunders, Patrick;
    • Roosing, Susanne;
    • Cremers, Frans P. M.
    Publication type:
    Article
    14

    High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2130, doi. 10.1002/humu.24487
    By:
    • Douben, Hannie C. W.;
    • Nellist, Mark;
    • van Unen, Leontine;
    • Elfferich, Peter;
    • Kasteleijn, Esmee;
    • Hoogeveen‐Westerveld, Marianne;
    • Louwen, Jesse;
    • van Veghel‐Plandsoen, Monique;
    • de Valk, Walter;
    • Saris, Jasper J.;
    • Hendriks, Femke;
    • Korpershoek, Esther;
    • Hoefsloot, Lies H.;
    • van Vliet, Margreethe;
    • van Bever, Yolande;
    • van de Laar, Ingrid;
    • Aten, Emmelien;
    • Lachmeijer, Augusta M. A.;
    • Taal, Walter;
    • van den Bersselaar, Lisa
    Publication type:
    Article
    15

    SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2308, doi. 10.1002/humu.24491
    By:
    • Leman, Raphaël;
    • Parfait, Béatrice;
    • Vidaud, Dominique;
    • Girodon, Emmanuelle;
    • Pacot, Laurence;
    • Le Gac, Gérald;
    • Ka, Chandran;
    • Ferec, Claude;
    • Fichou, Yann;
    • Quesnelle, Céline;
    • Aucouturier, Camille;
    • Muller, Etienne;
    • Vaur, Dominique;
    • Castera, Laurent;
    • Boulouard, Flavie;
    • Ricou, Agathe;
    • Tubeuf, Hélène;
    • Soukarieh, Omar;
    • Gaildrat, Pascaline;
    • Riant, Florence
    Publication type:
    Article
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    Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2116, doi. 10.1002/humu.24478
    By:
    • Simsek‐Kiper, Pelin Ozlem;
    • Jacob, Prince;
    • Upadhyai, Priyanka;
    • Taşkıran, Zihni Ekim;
    • Guleria, Vishal S.;
    • Karaosmanoglu, Beren;
    • Imren, Gozde;
    • Gocmen, Rahsan;
    • Bhavani, Gandham S.;
    • Kausthubham, Neethukrishna;
    • Shah, Hitesh;
    • Utine, Gulen Eda;
    • Boduroglu, Koray;
    • Girisha, Katta M.
    Publication type:
    Article
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    Destabilization of mutated human PUS3 protein causes intellectual disability.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2063, doi. 10.1002/humu.24471
    By:
    • Lin, Ting‐Yu;
    • Smigiel, Robert;
    • Kuzniewska, Bozena;
    • Chmielewska, Joanna J.;
    • Kosińska, Joanna;
    • Biela, Mateusz;
    • Biela, Anna;
    • Kościelniak, Anna;
    • Dobosz, Dominika;
    • Laczmanska, Izabela;
    • Chramiec‐Głąbik, Andrzej;
    • Jeżowski, Jakub;
    • Nowak, Jakub;
    • Gos, Monika;
    • Rzonca‐Niewczas, Sylwia;
    • Dziembowska, Magdalena;
    • Ploski, Rafał;
    • Glatt, Sebastian
    Publication type:
    Article
    29

    Mutation update for the ACTN2 gene.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1745, doi. 10.1002/humu.24470
    By:
    • Ranta‐aho, Johanna;
    • Olive, Montse;
    • Vandroux, Marie;
    • Roticiani, Giorgia;
    • Dominguez, Cristina;
    • Johari, Mridul;
    • Torella, Annalaura;
    • Böhm, Johann;
    • Turon, Janina;
    • Nigro, Vincenzo;
    • Hackman, Peter;
    • Laporte, Jocelyn;
    • Udd, Bjarne;
    • Savarese, Marco
    Publication type:
    Article
    30

    Biallelic loss‐of‐function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2079, doi. 10.1002/humu.24475
    By:
    • Wang, Guanxiong;
    • Zhu, Xiaoyu;
    • Gao, Yang;
    • Lv, Mingrong;
    • Li, Kuokuo;
    • Tang, Dongdong;
    • Wu, Huan;
    • Xu, Chuan;
    • Geng, Hao;
    • Shen, Qunshan;
    • Zha, Xiaomin;
    • Duan, Zongliu;
    • Zhang, Jingjing;
    • Hua, Rong;
    • Tao, Fangbiao;
    • Zhou, Ping;
    • Wei, Zhaolian;
    • Cao, Yunxia;
    • Guo, Rui;
    • He, Xiaojin
    Publication type:
    Article
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    Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2033, doi. 10.1002/humu.24461
    By:
    • Chander, Varuna;
    • Mahmoud, Medhat;
    • Hu, Jianhong;
    • Dardas, Zain;
    • Grochowski, Christopher M.;
    • Dawood, Moez;
    • Khayat, Michael M.;
    • Li, He;
    • Li, Shoudong;
    • Jhangiani, Shalini;
    • Korchina, Viktoriya;
    • Shen, Hua;
    • Weissenberger, George;
    • Meng, Qingchang;
    • Gingras, Marie‐Claude;
    • Muzny, Donna M.;
    • Doddapaneni, Harsha;
    • Posey, Jennifer E.;
    • Lupski, James R.;
    • Sabo, Aniko
    Publication type:
    Article
    35

    CIC missense variants contribute to susceptibility for spina bifida.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2021, doi. 10.1002/humu.24460
    By:
    • Han, Xiao;
    • Cao, Xuanye;
    • Aguiar‐Pulido, Vanessa;
    • Yang, Wei;
    • Karki, Menuka;
    • Ramirez, Paula Andrea Pimienta;
    • Cabrera, Robert M.;
    • Lin, Ying Linda;
    • Wlodarczyk, Bogdan J.;
    • Shaw, Gary M.;
    • Ross, M. Elizabeth;
    • Zhang, Cuilian;
    • Finnell, Richard H.;
    • Lei, Yunping
    Publication type:
    Article
    36

    Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2010, doi. 10.1002/humu.24459
    By:
    • Tosco‐Herrera, Eva;
    • Muñoz‐Barrera, Adrián;
    • Jáspez, David;
    • Rubio‐Rodríguez, Luis A.;
    • Mendoza‐Alvarez, Alejandro;
    • Rodriguez‐Perez, Hector;
    • Jou, Jonathan;
    • Iñigo‐Campos, Antonio;
    • Corrales, Almudena;
    • Ciuffreda, Laura;
    • Martinez‐Bugallo, Francisco;
    • Prieto‐Morin, Carol;
    • García‐Olivares, Víctor;
    • González‐Montelongo, Rafaela;
    • Lorenzo‐Salazar, Jose Miguel;
    • Marcelino‐Rodriguez, Itahisa;
    • Flores, Carlos
    Publication type:
    Article
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    de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1979, doi. 10.1002/humu.24455
    By:
    • Ng, Jeffrey K.;
    • Vats, Pankaj;
    • Fritz‐Waters, Elyn;
    • Sarkar, Stephanie;
    • Sams, Eleanor I.;
    • Padhi, Evin M.;
    • Payne, Zachary L.;
    • Leonard, Shawn;
    • West, Marc A.;
    • Prince, Chandler;
    • Trani, Lee;
    • Jansen, Marshall;
    • Vacek, George;
    • Samadi, Mehrzad;
    • Harkins, Timothy T.;
    • Pohl, Craig;
    • Turner, Tychele N.
    Publication type:
    Article
    39

    Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1956, doi. 10.1002/humu.24454
    By:
    • Ye, Zimeng;
    • Lin, Sufang;
    • Zhao, Xia;
    • Bennett, Mark F.;
    • Brown, Natasha J.;
    • Wallis, Mathew;
    • Gao, Xinyi;
    • Sun, Li;
    • Wu, Jiarui;
    • Vedururu, Ravikiran;
    • Witkowski, Tom;
    • Gardiner, Fiona;
    • Stutterd, Chloe;
    • Duan, Jing;
    • Mullen, Saul A.;
    • McGillivray, George;
    • Bodek, Simon;
    • Valente, Giulia;
    • Reagan, Matthew;
    • Yao, Yi
    Publication type:
    Article
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    Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1921, doi. 10.1002/humu.24449
    By:
    • Thomassen, Mads;
    • Mesman, Romy L. S.;
    • Hansen, Thomas V. O.;
    • Menendez, Mireia;
    • Rossing, Maria;
    • Esteban‐Sánchez, Ada;
    • Tudini, Emma;
    • Törngren, Therese;
    • Parsons, Michael T.;
    • Pedersen, Inge S.;
    • Teo, Soo H.;
    • Kruse, Torben A.;
    • Møller, Pål;
    • Borg, Åke;
    • Jensen, Uffe B.;
    • Christensen, Lise L.;
    • Singer, Christian F.;
    • Muhr, Daniela;
    • Santamarina, Marta;
    • Brandao, Rita
    Publication type:
    Article
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    De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1844, doi. 10.1002/humu.24444
    By:
    • Janssen, Beau D. E.;
    • van den Boogaard, Marie‐Jose H.;
    • Lichtenbelt, Klaske;
    • Seaby, Eleanor G.;
    • Stals, Karen;
    • Ellard, Sian;
    • Newbury‐Ecob, Ruth;
    • Dixit, Abhijit;
    • Roht, Laura;
    • Pajusalu, Sander;
    • Õunap, Katrin;
    • Firth, Helen V.;
    • Buckley, Michael;
    • Wilson, Meredith;
    • Roscioli, Tony;
    • Tidwell, Timothy;
    • Mao, Rong;
    • Ennis, Sarah;
    • Holwerda, Sjoerd J.;
    • van Gassen, Koen
    Publication type:
    Article
    47

    Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1837, doi. 10.1002/humu.24443
    By:
    • Chen, Robert;
    • Diaz‐Miranda, Maria Alejandra;
    • Aref‐Eshghi, Erfan;
    • Hartman, Tiffiney R.;
    • Griffith, Christopher;
    • Morrison, Jennifer L.;
    • Wheeler, Patricia G.;
    • Torti, Erin;
    • Richard, Gabriele;
    • Kenna, Margaret;
    • Dechene, Elizabeth T.;
    • Spinner, Nancy B.;
    • Bai, Renkui;
    • Conlin, Laura K.;
    • Krantz, Ian D.;
    • Amr, Sami S.;
    • Luo, Minjie
    Publication type:
    Article
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    Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1882, doi. 10.1002/humu.24438
    By:
    • Coursimault, Juliette;
    • Cassinari, Kévin;
    • Lecoquierre, François;
    • Quenez, Olivier;
    • Coutant, Sophie;
    • Derambure, Céline;
    • Vezain, Myriam;
    • Drouot, Nathalie;
    • Vera, Gabriella;
    • Schaefer, Elise;
    • Philippe, Anaïs;
    • Doray, Bérénice;
    • Lambert, Laëtitia;
    • Ghoumid, Jamal;
    • Smol, Thomas;
    • Rama, Mélanie;
    • Legendre, Marine;
    • Lacombe, Didier;
    • Fergelot, Patricia;
    • Olaso, Robert
    Publication type:
    Article