thumbnail

The American Journal of Human Genetics

  0002-9297

 

 

Cơ quản chủ quản:  Cell Press

Lĩnh vực:
GeneticsGenetics (clinical)

Phân tích ảnh hưởng

Thông tin về tạp chí

 

Các bài báo tiêu biểu

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome
Tập 82 - Trang 1334-1341 - 2008
Alberto S. Cornier, Karen Staehling-Hampton, Kym M. Delventhal, Yumiko Saga, Jean-Francois Caubet, Nobuo Sasaki, Sian Ellard, Elizabeth Young, Norman Ramirez, Simon E. Carlo, Jose Torres, John B. Emans, Peter D. Turnpenny, Olivier Pourquié
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
Tập 98 - Trang 45-57 - 2016
Michael H. Duyzend, Xander Nuttle, Bradley P. Coe, Carl Baker, Deborah A. Nickerson, Raphael Bernier, Evan E. Eichler
Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele
Tập 79 - Trang 174-179 - 2006
Ellen Wilch, Mei Zhu, Kirk B. Burkhart, Martha Regier, Jill L. Elfenbein, Rachel A. Fisher, Karen H. Friderici
Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases
Tập 90 - Trang 962-972 - 2012
Hugues Aschard, Jinbo Chen, Marilyn C. Cornelis, Lori B. Chibnik, Elizabeth W. Karlson, Peter Kraft
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans
Tập 110 - Trang 58-70 - 2023
Yizhen Zhong, Tanima De, Mrinal Mishra, Juan Avitia, Cristina Alarcon, Minoli A. Perera
Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11
Tập 69 - Trang 804-819 - 2001
Hideaki Onda, Hidetoshi Kasuya, Taku Yoneyama, Kintomo Takakura, Tomokatsu Hori, Jun Takeda, Toshiaki Nakajima, Ituro Inoue
At the Speed of Sound: Gene Discovery in the Auditory System
Tập 69 - Trang 923-935 - 2001
Barbara L. Resendes, Robin E. Williamson, Cynthia C. Morton
Rapid Clearance of Fetal DNA from Maternal Plasma
Tập 64 - Trang 218-224 - 1999
Y. M. Dennis Lo, Jun Zhang, Tse N. Leung, Tze K. Lau, Allan M.Z. Chang, N. Magnus Hjelm
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
Tập 109 - Trang 1960-1973 - 2022
Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger
Phenome-wide Burden of Copy-Number Variation in the UK Biobank
Tập 105 - Trang 373-383 - 2019
Matthew Aguirre, Manuel A. Rivas, James Priest