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Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.

Authors :Zhang Y , Landau YE , Miller DT , Marsden D , Berry GT , Kellogg MD
Published On :2012 Dec
Case Reports Journal Article



Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Authors :Manzini MC , Tambunan DE , Hill RS , Yu TW , Maynard TM , Heinzen EL , Shianna KV , Stevens CR , Partlow JN , Barry BJ , Rodriguez J , Gupta VA , Al-Qudah AK , Eyaid WM , Friedman JM , Salih MA , Clark R , Moroni I , Mora M , Beggs AH , Gabriel SB , Walsh CA
Published On :2012 Sep 7
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Improving lambda red genome engineering in Escherichia coli via rational removal of endogenous nucleases.

Authors :Mosberg JA , Gregg CJ , Lajoie MJ , Wang HH , Church GM
Published On :2012
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


Systematic localization of common disease-associated variation in regulatory DNA.

Authors :Maurano MT , Humbert R , Rynes E , Thurman RE , Haugen E , Wang H , Reynolds AP , Sandstrom R , Qu H , Brody J , Shafer A , Neri F , Lee K , Kutyavin T , Stehling-Sun S , Johnson AK , Canfield TK , Giste E , Diegel M , Bates D , Hansen RS , Neph S , Sabo PJ , Heimfeld S , Raubitschek A , Ziegler S , Cotsapas C , Sotoodehnia N , Glass I , Sunyaev SR , Kaul R , Stamatoyannopoulos JA
Published On :2012 Sep 7
Journal Article Research Support, N.I.H., Extramural


The accessible chromatin landscape of the human genome.

Authors :Thurman RE , Rynes E , Humbert R , Vierstra J , Maurano MT , Haugen E , Sheffield NC , Stergachis AB , Wang H , Vernot B , Garg K , John S , Sandstrom R , Bates D , Boatman L , Canfield TK , Diegel M , Dunn D , Ebersol AK , Frum T , Giste E , Johnson AK , Johnson EM , Kutyavin T , Lajoie B , Lee BK , Lee K , London D , Lotakis D , Neph S , Neri F , Nguyen ED , Qu H , Reynolds AP , Roach V , Safi A , Sanchez ME , Sanyal A , Shafer A , Simon JM , Song L , Vong S , Weaver M , Yan Y , Zhang Z , Zhang Z , Lenhard B , Tewari M , Dorschner MO , Hansen RS , Navas PA , Stamatoyannopoulos G , Iyer VR , Lieb JD , Sunyaev SR , Akey JM , Sabo PJ , Kaul R , Furey TS , Dekker J , Crawford GE , Stamatoyannopoulos JA
Published On :2012 Sep 6
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


Essential genes as antimicrobial targets and cornerstones of synthetic biology.

Authors :Juhas M , Eberl L , Church GM
Published On :2012 Nov
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Review


Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Authors :Thompson BA , Greenblatt MS , Vallee MP , Herkert JC , Tessereau C , Young EL , Adzhubey IA , Li B , Bell R , Feng B , Mooney SD , Radivojac P , Sunyaev SR , Frebourg T , Hofstra RM , Sijmons RH , Boucher K , Thomas A , Goldgar DE , Spurdle AB , Tavtigian SV
Published On :2013 Jan
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Prenatal exposure to maternal cigarette smoking, amygdala volume, and fat intake in adolescence.

Authors :Haghighi A , Schwartz DH , Abrahamowicz M , Leonard GT , Perron M , Richer L , Veillette S , Gaudet D , Paus T , Pausova Z
Published On :2013 Jan
Journal Article Research Support, Non-U.S. Gov't


Wains: a pattern-seeking artificial life species.

Authors :de Buitléir A , Russell M , Daly M
Published On :2012 Fall
Journal Article Research Support, Non-U.S. Gov't


Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling.

Authors :Rana HQ , Balwani M , Bier L , Alcalay RN
Published On :2013 Feb
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Authors :Haghighi A , Scott CA , Poon DS , Yaghoobi R , Saleh-Gohari N , Plagnol V , Kelsell DP
Published On :2013 Feb
Case Reports Letter Research Support, Non-U.S. Gov't


Measuring cation dependent DNA polymerase fidelity landscapes by deep sequencing.

Authors :Zamft BM , Marblestone AH , Kording K , Schmidt D , Martin-Alarcon D , Tyo K , Boyden ES , Church G
Published On :2012
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.

Authors :Lage K , Greenway SC , Rosenfeld JA , Wakimoto H , Gorham JM , Segrè AV , Roberts AE , Smoot LB , Pu WT , Pereira AC , Mesquita SM , Tommerup N , Brunak S , Ballif BC , Shaffer LG , Donahoe PK , Daly MJ , Seidman JG , Seidman CE , Larsen LA
Published On :2012 Aug 28
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Next-generation digital information storage in DNA.

Authors :Church GM , Gao Y , Kosuri S
Published On :2012 Sep 28
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.