Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 8

Results: 20

Outside Back Cover, Volume 41, Issue 8.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. iv, doi. 10.1002/humu.24087

By:

Tunca, Ceren;
Şeker, Tuncay;
Akçimen, Fulya;
Coşkun, Cemre;
Bayraktar, Elif;
Palvadeau, Robin;
Zor, Seyit;
Koçoğlu, Cemile;
Kartal, Ece;
Şen, Nesli Ece;
Hamzeiy, Hamid;
Özoğuz Erimiş, Aslıhan;
Norman, Utku;
Karakahya, Oğuzhan;
Olgun, Gülden;
Akgün, Tahsin;
Durmuş, Hacer;
Şahin, Erdi;
Çakar, Arman;
Başar Gürsoy, Esra

Publication type:

Article

TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1351, doi. 10.1002/humu.24032

By:

Zou, Wen‐Bin;
Wang, Yuan‐Chen;
Ren, Xin‐Lu;
Wang, Lei;
Deng, Shun‐Jiang;
Mao, Xiao‐Tong;
Li, Zhao‐Shen;
Liao, Zhuan

Publication type:

Article

Inside Front Cover, Volume 41, Issue 8.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. ii, doi. 10.1002/humu.24085

By:

Zou, Wen‐Bin;
Wang, Yuan‐Chen;
Ren, Xin‐Lu;
Wang, Lei;
Deng, Shun‐Jiang;
Mao, Xiao‐Tong;
Li, Zhao‐Shen;
Liao, Zhuan

Publication type:

Article

Outside Front Cover, Volume 41, Issue 8.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. i, doi. 10.1002/humu.24084

By:

Ye, Jianhong;
Tong, Youli;
Lv, Jiashun;
Peng, Rui;
Chen, Shuxia;
Kuang, Lele;
Su, Ke;
Zheng, Yufang;
Zhang, Ting;
Zhang, Feng;
Jin, Li;
Yang, Xueyan;
Wang, Hongyan

Publication type:

Article

Identification of pathogenic variants of ERLEC1 in individuals with Class III malocclusion by exome sequencing.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1435, doi. 10.1002/humu.24054

By:

Rao, Chunbao;
Guan, Biyang;
Luo, Dong;
Deng, Qin;
Peng, Qi;
Lin, Zitian;
Huang, Meihua;
Qi, Ming;
Zhong, Baimao;
Lu, Xiaomei

Publication type:

Article

Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1365, doi. 10.1002/humu.24033

By:

Balzotti, Marie;
Meng, Linyan;
Muzzey, Dale;
Johansen Taber, Katherine;
Beauchamp, Kyle;
Curation Team, Myriad Genetics;
Curation Team, Baylor Genetics;
Mar‐Heyming, Rebecca;
Buckley, Bethany;
Moyer, Krista

Publication type:

Article

Inside Back Cover, Volume 41, Issue 8.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. iii, doi. 10.1002/humu.24086

By:

Balzotti, Marie;
Meng, Linyan;
Muzzey, Dale;
Johansen Taber, Katherine;
Beauchamp, Kyle;
Curation Team, Myriad Genetics;
Curation Team, Baylor Genetics;
Mar‐Heyming, Rebecca;
Buckley, Bethany;
Moyer, Krista

Publication type:

Article

Response to: A commentary on "A Vietnamese human genetic variation database".

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1461, doi. 10.1002/humu.24031

By:

Le, Vinh S.;
Tran, Kien T.;
Nguyen, Liem T.

Publication type:

Article

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. e7, doi. 10.1002/humu.24055

By:

Tunca, Ceren;
Şeker, Tuncay;
Akçimen, Fulya;
Coşkun, Cemre;
Bayraktar, Elif;
Palvadeau, Robin;
Zor, Seyit;
Koçoğlu, Cemile;
Kartal, Ece;
Şen, Nesli Ece;
Hamzeiy, Hamid;
Özoğuz Erimiş, Aslıhan;
Norman, Utku;
Karakahya, Oğuzhan;
Olgun, Gülden;
Akgün, Tahsin;
Durmuş, Hacer;
Şahin, Erdi;
Çakar, Arman;
Başar Gürsoy, Esra

Publication type:

Article

Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1447, doi. 10.1002/humu.24058

By:

Katoh, Kimiko;
Aiba, Kaori;
Fukushi, Daisuke;
Yoshimura, Jun;
Suzuki, Yasuyo;
Mitsui, Jun;
Morishita, Shinichi;
Tuji, Shoji;
Yamada, Kenichiro;
Wakamatsu, Nobuaki

Publication type:

Article

Mutation prevalence tables for hereditary cancer derived from multigene panel testing.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. e1, doi. 10.1002/humu.24053

By:

Hart, Steven N.;
Polley, Eric C.;
Yussuf, Amal;
Yadav, Siddhartha;
Goldgar, David E.;
Hu, Chunling;
LaDuca, Holly;
Smith, Laura P.;
Fujimoto, June;
Li, Shuwei;
Couch, Fergus J.;
Dolinsky, Jill S.

Publication type:

Article

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1425, doi. 10.1002/humu.24050

By:

Riley, Lisa G.;
Rudinger‐Thirion, Joëlle;
Frugier, Magali;
Wilson, Meredith;
Luig, Melissa;
Alahakoon, Thushari Indika;
Nixon, Cheng Yee;
Kirk, Edwin P.;
Roscioli, Tony;
Lunke, Sebastian;
Stark, Zornitza;
Wierenga, Klaas J.;
Palle, Sirish;
Walsh, Maie;
Higgs, Emily;
Arbuckle, Susan;
Thirukeswaran, Shalini;
Compton, Alison G.;
Thorburn, David R.;
Christodoulou, John

Publication type:

Article

Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1394, doi. 10.1002/humu.24037

By:

Zereg, Elamine;
Chaussenot, Annabelle;
Morel, Godelieve;
Bannwarth, Sylvie;
Sacconi, Sabrina;
Soriani, Marie‐Hélène;
Attarian, Shahram;
Cano, Aline;
Pouget, Jean;
Bellance, Rémi;
Tranchant, Christine;
Lannes, Béatrice;
Paula, André Maues;
Saadi Ait‐El‐Mkadem, Samira;
Chafino, Bernadette;
Berthet, Mathieu;
Fragaki, Konstantina;
Paquis‐Flucklinger, Véronique;
Rouzier, Cécile

Publication type:

Article

Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1341, doi. 10.1002/humu.24052

By:

Lemos, Manuel C.;
Thakker, Rajesh V.

Publication type:

Article

Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1407, doi. 10.1002/humu.24034

By:

Thai, Monica H. N.;
Gardner, Alison;
Redpath, Laura;
Mattiske, Tessa;
Dearsley, Oliver;
Shaw, Marie;
Vulto‐van Silfhout, Anneke T.;
Pfundt, Rolph;
Dixon, Joanne;
McGaughran, Julie;
Pérez‐Jurado, Luis A.;
Gécz, Jozef;
Shoubridge, Cheryl

Publication type:

Article

A commentary on "A Vietnamese human genetic variation database".

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1463, doi. 10.1002/humu.24035

By:

Johnson, Adam F.;
Ngo, Linh T.

Publication type:

Article

5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1358, doi. 10.1002/humu.24029

By:

Lin, Jin‐Huan;
Masson, Emmanuelle;
Boulling, Arnaud;
Hayden, Matthew;
Cooper, David N.;
Férec, Claude;
Liao, Zhuan;
Chen, Jian‐Min

Publication type:

Article

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1372, doi. 10.1002/humu.24027

By:

Thomas, Huw B.;
Wood, Katherine A.;
Buczek, Weronika A.;
Gordon, Christopher T.;
Pingault, Véronique;
Attié‐Bitach, Tania;
Hentges, Kathryn E.;
Varghese, Vinod C.;
Amiel, Jeanne;
Newman, William G.;
O'Keefe, Raymond T.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2020, v. 41, n. 8, p. 1339, doi. 10.1002/humu.23812
Publication type:: Article

Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1383, doi. 10.1002/humu.24028

By:

Ye, Jianhong;
Tong, Youli;
Lv, Jiashun;
Peng, Rui;
Chen, Shuxia;
Kuang, Lele;
Su, Ke;
Zheng, Yufang;
Zhang, Ting;
Zhang, Feng;
Jin, Li;
Yang, Xueyan;
Wang, Hongyan

Publication type:

Article