Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 8

Results: 8

Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1327, doi. 10.1007/s00439-022-02436-x

By:

Zou, Wen-Bin;
Cooper, David N.;
Masson, Emmanuelle;
Pu, Na;
Liao, Zhuan;
Férec, Claude;
Chen, Jian-Min

Publication type:

Article

An effector index to predict target genes at GWAS loci.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1431, doi. 10.1007/s00439-022-02434-z

By:

Forgetta, Vincenzo;
Jiang, Lai;
Vulpescu, Nicholas A.;
Hogan, Megan S.;
Chen, Siyuan;
Morris, John A.;
Grinek, Stepan;
Benner, Christian;
Jang, Dong-Keun;
Hoang, Quy;
Burtt, Noel;
Flannick, Jason A.;
McCarthy, Mark I.;
Fauman, Eric;
Greenwood, Celia M. T.;
Maurano, Matthew T.;
Richards, J. Brent

Publication type:

Article

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1423, doi. 10.1007/s00439-022-02433-0

By:

Salian, Smrithi;
Guo, Xin-Yu;
Murakami, Yoshiko;
Kinoshita, Taroh;
Kaur, Parneet;
Shukla, Anju;
Girisha, Katta M.;
Fujita, Morihisa;
Campeau, Philippe M.

Publication type:

Article

Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1409, doi. 10.1007/s00439-022-02432-1

By:

Lubin, Emily;
Bryant, Laura;
Aicher, Joseph;
Li, Dong;
Bhoj, Elizabeth

Publication type:

Article

BMP3 is a novel locus involved in the causality of ocular coloboma.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1385, doi. 10.1007/s00439-022-02430-3

By:

Fox, Sabrina C.;
Widen, Sonya A.;
Asai-Coakwell, Mika;
Havrylov, Serhiy;
Benson, Matthew;
Prichard, Lisa B.;
Baddam, Pranidhi;
Graf, Daniel;
Lehmann, Ordan J.;
Waskiewicz, Andrew J.

Publication type:

Article

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1371, doi. 10.1007/s00439-021-02429-2

By:

Zheng, Yu;
Zhu, Guanghui;
Liu, Yaoxi;
Zhao, Weihua;
Yang, Yongjia;
Luo, Zhenqing;
Fu, Yuyan;
Mei, Haibo;
Hu, Zhengmao

Publication type:

Article

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1355, doi. 10.1007/s00439-021-02427-4

By:

McTiernan, Nina;
Tranebjærg, Lisbeth;
Bjørheim, Anna S.;
Hogue, Jacob S.;
Wilson, William G.;
Schmidt, Berkley;
Boerrigter, Melissa M.;
Nybo, Maja L.;
Smeland, Marie F.;
Tümer, Zeynep;
Arnesen, Thomas

Publication type:

Article

Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease.

Published in:

Human Genetics, 2022, v. 141, n. 8, p. 1339, doi. 10.1007/s00439-021-02426-5

By:

Chen, Weicheng;
Zhang, Yuan;
Shen, Libing;
Zhu, Jialiang;
Cai, Ke;
Lu, Zhouping;
Zeng, Weijia;
Zhao, Jianyuan;
Zhou, Xiangyu

Publication type:

Article