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