Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 3

Results: 14

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 3, p. 283, doi. 10.1002/humu.24225
Publication type:: Article

A decade of RAD51C and RAD51D germline variants in cancer.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 285, doi. 10.1002/humu.24319

By:

Boni, Jacopo;
Idani, Aida;
Roca, Carla;
Feliubadaló, Lidia;
Tomiak, Eva;
Weber, Evan;
Foulkes, William D.;
Orthwein, Alexandre;
El Haffaf, Zaki;
Lazaro, Conxi;
Rivera, Barbara

Publication type:

Article

Generation and mutational analysis of a transgenic mouse model of human SRY.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 362, doi. 10.1002/humu.24318

By:

Thomson, Ella;
Zhao, Liang;
Chen, Yen‐Shan;
Longmuss, Enya;
Ng, Ee Ting;
Sreenivasan, Rajini;
Croft, Brittany;
Song, Xin;
Sinclair, Andrew;
Weiss, Michael;
Koopman, Peter;
Pelosi, Emanuele

Publication type:

Article

Distinct sequence features underlie microdeletions and gross deletions in the human genome.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 328, doi. 10.1002/humu.24314

By:

Qi, Mengling;
Stenson, Peter D.;
Ball, Edward V.;
Tainer, John A.;
Bacolla, Albino;
Kehrer‐Sawatzki, Hildegard;
Cooper, David N.;
Zhao, Huiying

Publication type:

Article

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 316, doi. 10.1002/humu.24313

By:

Sebai, Molka;
Tulasne, David;
Caputo, Sandrine M.;
Verkarre, Virginie;
Fernandes, Marie;
Guérin, Célia;
Reinhart, Fanny;
Adams, Séverine;
Maugard, Christine;
Caron, Olivier;
Guillaud‐Bataille, Marine;
Berthet, Pascaline;
Bignon, Yves‐Jean;
Bressac‐de Paillerets, Brigitte;
Burnichon, Nelly;
Chiesa, Jean;
Giraud, Sophie;
Lejeune, Sophie;
Limacher, Jean‐Marc;
de Pauw, Antoine

Publication type:

Article

Cover, Volume 43, Issue 3.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. i, doi. 10.1002/humu.24361

By:

Gao, Yang;
Wu, Huan;
Xu, Yuping;
Shen, Qunshan;
Xu, Chuan;
Geng, Hao;
Lv, Mingrong;
Tan, Qing;
Li, Kuokuo;
Tang, Dongdong;
Song, Bing;
Zhou, Ping;
Wei, Zhaolian;
He, Xiaojin;
Cao, Yunxia

Publication type:

Article

Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 305, doi. 10.1002/humu.24330

By:

Yang, Jennifer H.;
Friederich, Marisa W.;
Ellsworth, Katarzyna A.;
Frederick, Aliya;
Foreman, Emily;
Malicki, Denise;
Dimmock, David;
Lenberg, Jerica;
Prasad, Chitra;
Yu, Andrea C.;
Anthony Rupar, C.;
Hegele, Robert A.;
Manickam, Kandamurugu;
Koboldt, Daniel C.;
Crist, Erin;
Choi, Samantha S.;
Farhan, Sali M.K.;
Harvey, Helen;
Sattar, Shifteh;
Karp, Natalya

Publication type:

Article

Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 299, doi. 10.1002/humu.24329

By:

Gong, Pan;
Liu, Jing;
Jiao, Xianru;
Niu, Yue;
Wang, Jia;
Wang, Xiaodong;
Yang, Zhixian

Publication type:

Article

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 380, doi. 10.1002/humu.24327

By:

van Mazijk, Ralph;
Haarman, Annechien E.G.;
Hoefsloot, Lies H.;
Polling, Jan R.;
van Tienhoven, Marianne;
Klaver, Caroline C.W.;
Verhoeven, Virginie J.M.;
Loudon, Sjoukje E.;
Thiadens, Alberta A.H.J.;
Kievit, Anneke J.A.

Publication type:

Article

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326

By:

Scala, Marcello;
Wortmann, Saskia B.;
Kaya, Namik;
Stellingwerff, Menno D.;
Pistorio, Angela;
Glamuzina, Emma;
van Karnebeek, Clara D.;
Skrypnyk, Cristina;
Iwanicka‐Pronicka, Katarzyna;
Piekutowska‐Abramczuk, Dorota;
Ciara, Elżbieta;
Tort, Frederic;
Sheidley, Beth;
Poduri, Annapurna;
Jayakar, Parul;
Jayakar, Anuj;
Upadia, Jariya;
Walano, Nicolette;
Haack, Tobias B.;
Prokisch, Holger

Publication type:

Article

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 420, doi. 10.1002/humu.24325

By:

Marko, Hannah L.;
Hornig, Nadine C.;
Betz, Regina C.;
Holterhus, Paul‐Martin;
Altmüller, Janine;
Thiele, Holger;
Fabiano, Marietta;
Schweikert, Hans‐Udo;
Braun, Doreen;
Schweizer, Ulrich

Publication type:

Article

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324

By:

Jordan, Penelope;
Dorval, Guillaume;
Arrondel, Christelle;
Morinière, Vincent;
Tournant, Carole;
Audrezet, Marie‐Pierre;
Michel‐Calemard, Laurence;
Putoux, Audrey;
Lesca, Gaethan;
Labalme, Audrey;
Whalen, Sandra;
Loeuillet, Laurence;
Martinovic, Jelena;
Attie‐Bitach, Tania;
Bessières, Bettina;
Schaefer, Elise;
Scheidecker, Sophie;
Lambert, Laetitia;
Beneteau, Claire;
Patat, Olivier

Publication type:

Article

Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 389, doi. 10.1002/humu.24323

By:

Lebaron, Simon;
O'Donohue, Marie‐Françoise;
Smith, Scott C.;
Engleman, Kendra L.;
Juusola, Jane;
Safina, Nicole P.;
Thiffault, Isabelle;
Saunders, Carol J.;
Gleizes, Pierre‐Emmanuel

Publication type:

Article

Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.

Published in:

Human Mutation, 2022, v. 43, n. 3, p. 434, doi. 10.1002/humu.24322

By:

Gao, Yang;
Wu, Huan;
Xu, Yuping;
Shen, Qunshan;
Xu, Chuan;
Geng, Hao;
Lv, Mingrong;
Tan, Qing;
Li, Kuokuo;
Tang, Dongdong;
Song, Bing;
Zhou, Ping;
Wei, Zhaolian;
He, Xiaojin;
Cao, Yunxia

Publication type:

Article