Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 5

Results: 15

Cover, Volume 42, Issue 5.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. i, doi. 10.1002/humu.24209

By:

Vocke, Cathy D.;
Ricketts, Christopher J.;
Schmidt, Laura S.;
Ball, Mark W.;
Middelton, Lindsay A.;
Zbar, Berton;
Linehan, W. Marston

Publication type:

Article

Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 520, doi. 10.1002/humu.24194

By:

Vocke, Cathy D.;
Ricketts, Christopher J.;
Schmidt, Laura S.;
Ball, Mark W.;
Middelton, Lindsay A.;
Zbar, Berton;
Linehan, W. Marston

Publication type:

Article

Altered DNA repair creates novel Alu/Alu repeat‐mediated deletions.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 600, doi. 10.1002/humu.24193

By:

Morales, Maria E.;
Kaul, Tiffany;
Walker, JaNiece;
Everett, Chelsea;
White, Travis;
Deininger, Prescott

Publication type:

Article

Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 614, doi. 10.1002/humu.24192

By:

Hu, Jiayue;
Maegawa, Gustavo H.B.;
Zhan, Xia;
Gao, Xiaolan;
Wang, Yu;
Xu, Feng;
Qiu, Wenjuan;
Han, Lianshu;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 626, doi. 10.1002/humu.24191

By:

Nallamilli, Babi R. R.;
Chaubey, Alka;
Valencia, C. A.;
Stansberry, Leah;
Behlmann, Andrea M.;
Ma, Zeqiang;
Mathur, Abhinav;
Shenoy, Suresh;
Ganapathy, Vidya;
Jagannathan, Lakshmanan;
Ramachander, Vinish;
Ferlini, Alessandra;
Bean, Lora;
Hegde, Madhuri

Publication type:

Article

Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 537, doi. 10.1002/humu.24184

By:

Sakhi, Imène;
Bignon, Yohan;
Frachon, Nadia;
Hureaux, Marguerite;
Arévalo, Bárbara;
González, Wendy;
Vargas‐Poussou, Rosa;
Lourdel, Stéphane

Publication type:

Article

Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 592, doi. 10.1002/humu.24189

By:

Goldberg, Yael;
Laitman, Yael;
Ben David, Merav;
Bazak, Lily;
Lidzbarsky, Gabriel;
Salmon, Lina B.;
Shkedi‐Rafid, Shiri;
Barshack, Iris;
Avivi, Camila;
Darawshe, Malak;
Shomron, Noam;
Bruchim, Revital;
Vinkler, Chana;
Yannoukakos, Drakoulis;
Fostira, Florentia;
Bernstein‐Molho, Rinat;
Friedman, Eitan

Publication type:

Article

Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188

By:

Ghesh, Leïla;
Besnard, Thomas;
Nizon, Mathilde;
Trochu, Eva;
Landeau‐Trottier, Gaëlle;
Breheret, Flora;
Thauvin‐Robinet, Christel;
Bruel, Ange‐Line;
Kuentz, Paul;
Coubes, Christine;
Cuisset, Laurence;
Mignot, Cyril;
Keren, Boris;
Bézieau, Stéphane;
Cogné, Benjamin

Publication type:

Article

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 567, doi. 10.1002/humu.24187

By:

Nikolopoulos, Georgios;
Smith, Claire E. L.;
Poulter, James A.;
Murillo, Gina;
Silva, Sandra;
Lamb, Teresa;
Berry, Ian R.;
Brown, Catriona J.;
Day, Peter F.;
Soldani, Francesca;
Al‐Bahlani, Suhaila;
Harris, Sarah A.;
O'Connell, Mary J.;
Inglehearn, Chris F.;
Mighell, Alan J.

Publication type:

Article

A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 551, doi. 10.1002/humu.24186

By:

Luna, Sandra;
Torices, Leire;
Mingo, Janire;
Amo, Laura;
Rodríguez‐Escudero, Isabel;
Ruiz‐Ibarlucea, Pablo;
Erramuzpe, Asier;
Cortés, Jesús M.;
Tejada, María I.;
Molina, María;
Nunes‐Xavier, Caroline E.;
López, José I.;
Cid, Víctor J.;
Pulido, Rafael

Publication type:

Article

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 577, doi. 10.1002/humu.24190

By:

Khayat, Michael M.;
Li, He;
Chander, Varuna;
Hu, Jianhong;
Hansen, Adam W.;
Li, Shoudong;
Traynelis, Josh;
Shen, Hua;
Weissenberger, George;
Stossi, Fabio;
Johnson, Hannah L.;
Lupski, James R.;
Posey, Jennifer E.;
Sabo, Aniko;
Meng, Qingchang;
Murdock, David R.;
Wangler, Michael;
Gibbs, Richard A.

Publication type:

Article

Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 530, doi. 10.1002/humu.24183

By:

Davidson, Aimee L.;
Leonard, Conrad;
Koufariotis, Lambros T.;
Parsons, Michael T.;
Hollway, Georgina E.;
Pearson, John V.;
Newell, Felicity;
Waddell, Nicola;
Spurdle, Amanda B.

Publication type:

Article

Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 491, doi. 10.1002/humu.24180

By:

Heidari, Erfan;
Harrison, Alexander N.;
Jafarinia, Ehsan;
Tavasoli, Ali Reza;
Almadani, Navid;
Molday, Robert S.;
Garshasbi, Masoud

Publication type:

Article

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 506, doi. 10.1002/humu.24179

By:

Beecroft, Sarah J.;
Ayala, Marcos;
McGillivray, George;
Nanda, Vikas;
Agolini, Emanuele;
Novelli, Antonio;
Digilio, Maria C.;
Dotta, Andrea;
Carrozzo, Rosalba;
Clayton, Joshua;
Gaffney, Lydia;
McLean, Catriona A.;
Ng, Jessica;
Laing, Nigel G.;
Matteson, Paul;
Millonig, James;
Ravenscroft, Gianina

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 5, p. 489, doi. 10.1002/humu.24042
Publication type:: Article