Center-Authored Papers

Filters: Author is Rosenfeld, Jill A  [Clear All Filters]
2011
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V et al..  2011.  A copy number variation morbidity map of developmental delay.. Nature genetics. 43(9):838-46. Abstract
2012
Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong C-E et al..  2012.  Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.. Blood. 119(5):1283-1291. Abstract
2014
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT et al..  2014.  Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development.. Cell. Abstract
Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE.  2014.  A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.. American journal of human genetics. 94(3):415-25. Abstract