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

Results: 20

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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