Publication date | Communities | Collections | Article title | Author(s) | Journal/Conference |
---|---|---|---|---|---|
22 Apr 2015 | BMRC | Institute of Molecular and Cell Biology | Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders | Robert Brown, Hane Lee, Ascia Eskin, Gleb Kichaev, Kirk E Lohmueller, Bruno Reversade, Stanley F Nelson, Bogdan Pasaniuc | European Journal of Human Genetics |
2 Dec 2010 | BMRC | Institute of Medical Biology | Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling | Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian O'Connor, Barry Merriman, Stanley F. Nelson, Simon Cool, Osama H. Ababneh, Azmy Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade | The American Journal of Human Genetics |