Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 2

Results: 15

Cover, Volume 43, Issue 2.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. i, doi. 10.1002/humu.24334

By:

Sarafrazi, Soodabeh;
Daugherty, Sean C.;
Miller, Nicole;
Boada, Patrick;
Carpenter, Thomas O.;
Chunn, Lauren;
Dill, Kariena;
Econs, Michael J.;
Eisenbeis, Scott;
Imel, Erik A.;
Johnson, Britt;
Kiel, Mark J.;
Krolczyk, Stan;
Ramesan, Prameela;
Truty, Rebecca;
Sabbagh, Yves

Publication type:

Article

Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 253, doi. 10.1002/humu.24321

By:

Holm, Lise L.;
Doktor, Thomas K.;
Hansen, Michael B.;
Petersen, Ulrika S. S.;
Andresen, Brage S.

Publication type:

Article

EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 240, doi. 10.1002/humu.24320

By:

Collantes, Edward Ryan A.;
Delfin, Manuel S.;
Fan, Baojian;
Torregosa, Justine May R.;
Siguan‐Bell, Christine;
Florcruz, Nilo Vincent de Guzman;
Martinez, Jose Maria D.;
Masna‐Hidalgo, Barbara Joy;
Guzman, Vincent Paul T.;
Anotado‐Flores, Jewel Faith;
Levina, Faye D.;
Hernandez, Sophia Raine C.;
Collantes, Anthony A.;
Sibulo, Michael Carreon;
Rong, Shisong;
Wiggs, Janey L.

Publication type:

Article

Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 228, doi. 10.1002/humu.24315

By:

Hamada, Shin;
Masson, Emmanuelle;
Chen, Jian‐Min;
Sakaguchi, Reiko;
Rebours, Vinciane;
Buscail, Louis;
Matsumoto, Ryotaro;
Tanaka, Yu;
Kikuta, Kazuhiro;
Kataoka, Fumiya;
Sasaki, Akira;
Le Rhun, Marc;
Audin, Hela;
Lachaux, Alain;
Caumont, Bernard;
Lorenzo, Diane;
Billiemaz, Kareen;
Besnard, Raphael;
Koch, Stéphane;
Lamireau, Thierry

Publication type:

Article

ROHMM—A flexible hidden Markov model framework to detect runs of homozygosity from genotyping data.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 158, doi. 10.1002/humu.24316

By:

Çelik, Gökalp;
Tuncalı, Timur

Publication type:

Article

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 266, doi. 10.1002/humu.24308

By:

Kumble, Smitha;
Levy, Amanda M.;
Punetha, Jaya;
Gao, Hua;
Ah Mew, Nicholas;
Anyane‐Yeboa, Kwame;
Benke, Paul J.;
Berger, Sara M.;
Bjerglund, Lise;
Campos‐Xavier, Belinda;
Ciliberto, Michael;
Cohen, Julie S.;
Comi, Anne M.;
Curry, Cynthia;
Damaj, Lena;
Denommé‐Pichon, Anne‐Sophie;
Emrick, Lisa;
Faivre, Laurence;
Fasano, Mary Beth;
Fiévet, Alice

Publication type:

Article

The enhancer rare germline variation rs548071605 contributes to lung cancer development.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 200, doi. 10.1002/humu.24310

By:

Wang, Xuchun;
Cheng, He;
Yang, Yin;
Zuo, Xianglin;
Shao, Lipei;
Yu, Dawei;
Yang, Nan;
Zhang, Yu;
Li, Ruilei;
Wang, Xinyuan;
Shen, Bin;
Wang, Jianying;
Shi, Xiao;
Cao, Pingping;
Sun, Luan;
Han, Xiao;
Sun, Yujie

Publication type:

Article

Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 215, doi. 10.1002/humu.24312

By:

Liang, Qian;
Lin, Xiaoyi;
Wu, Xi;
Shao, Yanyan;
Chen, Changming;
Dai, Jing;
Lu, Yeling;
wu, Wenman;
Ding, Qiulan;
Wang, Xuefeng

Publication type:

Article

Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 169, doi. 10.1002/humu.24307

By:

Fujise, Kenshiro;
Okubo, Mariko;
Abe, Tadashi;
Yamada, Hiroshi;
Takei, Kohji;
Nishino, Ichizo;
Takeda, Tetsuya;
Noguchi, Satoru

Publication type:

Article

Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 103, doi. 10.1002/humu.24306

By:

Petersen, Ulrika S. S.;
Doktor, Thomas K.;
Andresen, Brage S.

Publication type:

Article

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 128, doi. 10.1002/humu.24305

By:

Billiet, Benjamin;
Amati‐Bonneau, Patrizia;
Desquiret‐Dumas, Valérie;
Guehlouz, Khadidja;
Milea, Dan;
Gohier, Philippe;
Lenaers, Guy;
Mirebeau‐Prunier, Delphine;
den Dunnen, Johan T.;
Reynier, Pascal;
Ferré, Marc

Publication type:

Article

Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 189, doi. 10.1002/humu.24304

By:

Melas, Marilena;
Kautto, Esko A.;
Franklin, Samuel J.;
Mori, Mari;
McBride, Kim L.;
Mosher, Theresa Mihalic;
Pfau, Ruthann B.;
Hernandez‐Gonzalez, Maria Elena;
McGrath, Sean D.;
Magrini, Vincent J.;
White, Peter;
Samora, Julie Balch;
Koboldt, Daniel C.;
Wilson, Richard K.

Publication type:

Article

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH).

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 143, doi. 10.1002/humu.24296

By:

Sarafrazi, Soodabeh;
Daugherty, Sean C.;
Miller, Nicole;
Boada, Patrick;
Carpenter, Thomas O.;
Chunn, Lauren;
Dill, Kariena;
Econs, Michael J.;
Eisenbeis, Scott;
Imel, Erik A.;
Johnson, Britt;
Kiel, Mark J.;
Krolczyk, Stan;
Ramesan, Prameela;
Truty, Rebecca;
Sabbagh, Yves

Publication type:

Article

A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 2, p. 180, doi. 10.1002/humu.24297

By:

Zhang, Zhiqiang;
Guo, Qi;
Jia, Lei;
Zhou, Chuanchuan;
He, Shujing;
Fang, Cong;
Zhang, Minfang;
Sun, Peng;
Zeng, Zhi;
Wang, Meng;
Wang, Dandan;
Liang, Xiaoyan

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 2, p. 101, doi. 10.1002/humu.24224
Publication type:: Article