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