Results 1 to 10 of about 10,048,978 (405)

Interview with Huda Zoghbi [PDF]

, 2016
An oral history interview with Dr. Huda Zoghbi about her career at Baylor College of Medicine in the Texas Medical Center. She worked as a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor ...
Zoghbi, Huda, MD
core   +1 more source

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Nature Genetics, 2021
J. Szustakowski, S. Balasubramanian, E. Kvikstad, S. Khalid, Paola G. Bronson, Ariella Sasson, Emily Wong, Daren Liu, J. Wade Davis, C. Haefliger, A. Katrina Loomis, Rajesh Mikkilineni, H. J. Noh, Samir Wadhawan, X. Bai, A. Hawes, O. Krasheninina, Ricardo Ulloa, Alex Lopez, Erin N. Smith, Jeffrey Waring, Christopher D. Whelan, Ellen A. Tsai, J. Overton, W. Salerno, H. Jacob, S. Szalma, H. Runz, Gregory Hinkle, P. Nioi, S. Petrovski, Melissa R. Miller, A. Baras, L. Mitnaul, J. Reid, Oleg Carlos Saurabh Goncalo Nilanjana Christina Boris M Moiseyenko Rios Saha Abecasis Banerjee Beechert Bo, O. Moiseyenko, Carlos Rios, Saurabh Saha, Gonçalo R. Abecasis, N. Banerjee, Christina Beechert, Boris Boutkov, M. Cantor, G. Coppola, A. Economides, Gisu Eom, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, L. Habegger, Marcus Jones, R. Lanche, Michael Lattari, Michelle Leblanc, Dadong Li, L. Lotta, Kia Manoochehri, A. Mansfield, E. Maxwell, Jason Mighty, Mrunali Nafde, S. O’Keeffe, Max Orelus, Maria Sotiropoulos Padilla, R. Panea, Tommy Polanco, Manasi Pradhan, A. Rasool, T. Schleicher, Deepika Sharma, A. Shuldiner, J. Staples, C. V. van Hout, Louis Widom, Sarah E. Wolf, Sally John, Chia-Yen Chen, David Sexton, V. Kupelian, Eric Marshall, Timothy Swan, Susan Eaton, Jimmy Z. Liu, Stephanie J. Loomis, M. Jensen, Saranya Duraisamy, Jason Tetrault, David Merberg, S. Badola, M. Reppell, Jason Grundstad, Xiuwen Zheng, A. Deaton, Margaret M. Parker, Lucas D. Ward, A. Flynn-Carroll, Caroline Austin, Ruth March, M. Pangalos, A. Platt, Mike Snowden, A. Matakidou, Sebastian Wasilewski, Quanli Wang, Sri V. V. Deevi, K. Carss, Katherine R Smith, Morten Sogaard, Xinli Hu, Xing Chen, Zhan Ye   +111 more
semanticscholar   +1 more source

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Human Genetics, 2013
The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease.
P. Stenson, M. Mort, E. Ball, Katy Shaw, A. Phillips, D. Cooper   +5 more
semanticscholar   +1 more source

Genetics of human female infertility†

Biology of Reproduction, 2019
About 10% of women of reproductive age are unable to conceive or carry a pregnancy to term. Female factors alone account for at least 35% of all infertility cases and comprise a wide range of causes affecting ovarian development, maturation of oocytes ...
S. Yatsenko, A. Rajkovic
semanticscholar   +1 more source

Taking an antiracist posture in scientific publications in human genetics and genomics

Genetics in Medicine, 2021
K. Brothers, R. Bennett, M. Cho
semanticscholar   +1 more source

Human genetics of tuberculosis: a long and winding road

Philosophical Transactions of the Royal Society B: Biological Sciences, 2014
Only a small fraction of individuals exposed to Mycobacterium tuberculosis develop clinical tuberculosis (TB). Over the past century, epidemiological studies have shown that human genetic factors contribute significantly to this interindividual ...
L. Abel, Jamila El-Baghdadi, A. Bousfiha, J. Casanova, E. Schurr   +4 more
semanticscholar   +1 more source

Studies in the Genetics of Human Neoplasms: Cancer of the Breast, Based upon 201 Family Histories [PDF]

, 1937
R. P. Martynova
openalex   +1 more source

The Genetics of Human Skin and Hair Pigmentation.

Annual review of genomics and human genetics (Print), 2019
Human skin and hair color are visible traits that can vary dramatically within and across ethnic populations. The genetic makeup of these traits-including polymorphisms in the enzymes and signaling proteins involved in melanogenesis, and the vital role ...
W. Pavan, R. Sturm
semanticscholar   +1 more source

Burden of Mendelian disorders in a large Middle Eastern biobank

Genome Medicine
Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro   +20 more
doaj   +1 more source

Investigating the genetic architecture of eye colour in a Canadian cohort

iScience, 2022
Summary: Eye color is highly variable in populations with European ancestry, ranging from low to high quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest effect on eye color in these populations, although other ...
Frida Lona-Durazo, Rohit Thakur, Erola Pairo-Castineira, Karen Funderburk, Tongwu Zhang, Michael A. Kovacs, Jiyeon Choi, Ian J. Jackson, Kevin M. Brown, Esteban J. Parra   +9 more
doaj