Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 1

Results: 13

Cover, Volume 42, Issue 1.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. i, doi. 10.1002/humu.24161

By:

García‐Recio, Adrián;
Santos‐Gómez, Ana;
Soto, David;
Julia‐Palacios, Natalia;
García‐Cazorla, Àngels;
Altafaj, Xavier;
Olivella, Mireia

Publication type:

Article

A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 102, doi. 10.1002/humu.24147

By:

Giorgio, Elisa;
Pesce, Emanuela;
Pozzi, Elisa;
Sondo, Elvira;
Ferrero, Marta;
Morerio, Cristina;
Borrelli, Giusy;
Della Sala, Edoardo;
Lorenzati, Martina;
Cortelli, Pietro;
Buffo, Annalisa;
Pedemonte, Nicoletta;
Brusco, Alfredo

Publication type:

Article

A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 77, doi. 10.1002/humu.24134

By:

Ali, Mourad Wagdy;
Patro, C. Pawan K.;
Zhu, Jacqueline Jufen;
Dampier, Christopher H.;
Plummer, Sarah J.;
Kuscu, Cem;
Adli, Mazhar;
Lau, Ching;
Lai, Rose K.;
Casey, Graham

Publication type:

Article

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130

By:

Itai, Toshiyuki;
Hamanaka, Kohei;
Sasaki, Kazunori;
Wagner, Matias;
Kotzaeridou, Urania;
Brösse, Ines;
Ries, Markus;
Kobayashi, Yu;
Tohyama, Jun;
Kato, Mitsuhiro;
Ong, Winnie P.;
Chew, Hui B.;
Rethanavelu, Kavitha;
Ranza, Emmanuelle;
Blanc, Xavier;
Uchiyama, Yuri;
Tsuchida, Naomi;
Fujita, Atsushi;
Azuma, Yoshiteru;
Koshimizu, Eriko

Publication type:

Article

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 50, doi. 10.1002/humu.24129

By:

Uchiyama, Yuri;
Yamaguchi, Daisuke;
Iwama, Kazuhiro;
Miyatake, Satoko;
Hamanaka, Kohei;
Tsuchida, Naomi;
Aoi, Hiromi;
Azuma, Yoshiteru;
Itai, Toshiyuki;
Saida, Ken;
Fukuda, Hiromi;
Sekiguchi, Futoshi;
Sakaguchi, Tomohiro;
Lei, Ming;
Ohori, Sachiko;
Sakamoto, Masamune;
Kato, Mitsuhiro;
Koike, Takayoshi;
Takahashi, Yukitoshi;
Tanda, Koichi

Publication type:

Article

USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 37, doi. 10.1002/humu.24126

By:

Ye, Weiyuan;
Wang, Ya;
Hou, Sasa;
Mei, Bing;
Liu, Xinhong;
Huang, Han;
Zhou, Qian;
Niu, Yajing;
Chen, Yuanyuan;
Zhang, Manling;
Huang, Qingyang

Publication type:

Article

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 3, doi. 10.1002/humu.24144

By:

Higgins, Jan;
Dalgleish, Raymond;
Dunnen, Johan T.;
Barsh, Greg;
Freeman, Peter J.;
Cooper, David N.;
Cullinan, Sara;
Davies, Kay E.;
Dorkins, Huw;
Gong, Li;
Imoto, Issei;
Klein, Teri E.;
Korf, Bruce;
Misra, Adya;
Paalman, Mark H.;
Ratzel, Sarah;
Reichardt, Juergen K. V.;
Rehm, Heidi L.;
Tokunaga, Katsushi;
Weck, Karen E.

Publication type:

Article

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 89, doi. 10.1002/humu.24139

By:

Ain, Noor U.;
Muhammad, Niaz;
Dianatpour, Mehdi;
Baroncelli, Marta;
Iqbal, Muddassar;
Fard, Mohammad A. F.;
Bukhari, Ihtisham;
Ahmed, Sufian;
Hajipour, Massoumeh;
Tabatabaie, Zahra;
Foroutan, Hamidreza;
Nilsson, Ola;
Faghihi, Mohammad A.;
Makitie, Outi;
Naz, Sadaf

Publication type:

Article

GRIN database: A unified and manually curated repertoire of GRIN variants.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 8, doi. 10.1002/humu.24141

By:

García‐Recio, Adrián;
Santos‐Gómez, Ana;
Soto, David;
Julia‐Palacios, Natalia;
García‐Cazorla, Àngels;
Altafaj, Xavier;
Olivella, Mireia

Publication type:

Article

Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 31, doi. 10.1002/humu.24138

By:

Hu, Tong‐Yao;
Zhang, Huan;
Meng, Lan‐Lan;
Yuan, Shi‐Min;
Tu, Chao‐Feng;
Du, Juan;
Lu, Guang‐Xiu;
Lin, Ge;
Nie, Hong‐Chuan;
Tan, Yue‐Qiu

Publication type:

Article

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 19, doi. 10.1002/humu.24135

By:

Helman, Guy;
Compton, Alison G.;
Hock, Daniella H.;
Walkiewicz, Marzena;
Brett, Gemma R.;
Pais, Lynn;
Tan, Tiong Y.;
De Paoli‐Iseppi, Ricardo;
Clark, Michael B.;
Christodoulou, John;
White, Susan M.;
Thorburn, David R.;
Stroud, David A.;
Stark, Zornitza;
Simons, Cas

Publication type:

Article

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.

Published in:

Human Mutation, 2021, v. 42, n. 1, p. 25, doi. 10.1002/humu.24136

By:

Rad, Aboulfazl;
Schade‐Mann, Thore;
Gamerdinger, Philipp;
Yanus, Grigoriy A.;
Schulte, Björn;
Müller, Marcus;
Imyanitov, Evgeny N.;
Biskup, Saskia;
Löwenheim, Hubert;
Tropitzsch, Anke;
Vona, Barbara

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 1, p. 1, doi. 10.1002/humu.24038
Publication type:: Article