American Journal of Human Genetics

ISSN: 0002-9297 (Print)

ISSN: 1537-6605 (Online)

Volume
Issue
 
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
Marta Vergnano, Maja Mockenhaupt, Natashia Benzian-Olsson, Maren Paulmann, Katarzyna Grys, Satveer K. Mahil, Charlotte Chaloner, Ines A. Barbosa, A. David Burden, Siew-Eng Choon, Alex A. Navarini, Nick J. Reynolds, Richard B. Warren, Thamir Abraham, Mahmud Ali, Suzannah August, David Baudry, Anthony Bewley, Hywel Cooper, Christopher E.M. Griffiths, John Ingram, Susan Kelly, Mohsen Korshid, Effie Ladoyanni, John McKenna, Freya Meynell, Richard Parslew, Prakash Patel, Angela Pushparajah, Nick Reynolds, Catherine Smith, Shyamal Wahie, Richard Warren, Andrew Wright, Ulrike Huffmeier, Patrick Baum, Sudha Visvanathan, Jonathan N. Barker, Catherine H. Smith, Francesca Capon
Publication Date:
Correction Pages: 1 Open access
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes
Gregory McInnes, Andrew G. Sharo, Megan L. Koleske, Julia E.H. Brown, Matthew Norstad, Aashish N. Adhikari, Sheng Wang, Steven E. Brenner, Jodi Halpern, Barbara A. Koenig, David C. Magnus, Renata C. Gallagher, Kathleen M. Giacomini, Russ B. Altman
Publication Date:
Review Article Pages: 13 Open access
A catalog of GWAS fine-mapping efforts in autoimmune disease
Minal Caliskan, Christopher D. Brown, Joseph C. Maranville
Publication Date:
Review Article Pages: 14 Open access
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Rebecca Truty, Karen Ouyang, Susan Rojahn, Sarah Garcia, Alexandre Colavin, Barbara Hamlington, Mary Freivogel, Robert L. Nussbaum, Keith Nykamp, Swaroop Aradhya
Publication Date:
Research Article Pages: 12 Open access
Monoallelic and bi-allelic variants in <i>NCDN</i> cause neurodevelopmental delay, intellectual disability, and epilepsy
Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Akhtar Ali, Rein Fadoul, Loora Laan, Casimiro Castillejo-López, Maarika Liik, Zhe Jin, Bryndis Birnir, Naomichi Matsumoto, Shahid M. Baig, Joakim Klar, Niklas Dahl
Publication Date:
Brief Report Pages: 9 Open access
<i>De novo</i> structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
Jonathan R. Belyeu, Harrison Brand, Harold Wang, Xuefang Zhao, Brent S. Pedersen, Julie Feusier, Meenal Gupta, Thomas J. Nicholas, Joseph Brown, Lisa Baird, Bernie Devlin, Stephan J. Sanders, Lynn B. Jorde, Michael E. Talkowski, Aaron R. Quinlan
Publication Date:
Research Article Pages: 10 Open access