Publications | International Center for Genetic Disease at Harvard Medical School

Systemic Teriparatide Administration Promotes Osseous Regeneration of an Intrabony Defect: A Case Report.

Authors :Bashutski JD , Kinney JS , Benavides E , Maitra S , Braun TM , Giannobile WV , McCauley LK , Eber RM

Published On :2012 May

Case Reports Journal Article

Nprl3 is required for normal development of the cardiovascular system.

Authors :Kowalczyk MS , Hughes JR , Babbs C , Sanchez-Pulido L , Szumska D , Sharpe JA , Sloane-Stanley JA , Morriss-Kay GM , Smoot LB , Roberts AE , Watkins H , Bhattacharya S , Gibbons RJ , Ponting CP , Wood WG , Higgs DR

Published On :2012 Aug

Journal Article Research Support, Non-U.S. Gov't

The interface of protein structure, protein biophysics, and molecular evolution.

Authors :Liberles DA , Teichmann SA , Bahar I , Bastolla U , Bloom J , Bornberg-Bauer E , Colwell LJ , de Koning AP , Dokholyan NV , Echave J , Elofsson A , Gerloff DL , Goldstein RA , Grahnen JA , Holder MT , Lakner C , Lartillot N , Lovell SC , Naylor G , Perica T , Pollock DD , Pupko T , Regan L , Roger A , Rubinstein N , Shakhnovich E , Sjölander K , Sunyaev S , Teufel AI , Thorne JL , Thornton JW , Weinreich DM , Whelan S

Published On :2012 Jun

Journal Article Research Support, U.S. Gov't, Non-P.H.S. Review

Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

Authors :Hoban R , Roberts AE , Demmer L , Jethva R , Shephard B

Published On :2012 Jun

Case Reports Journal Article

Biosynthesis of piperazic acid via N5-hydroxy-ornithine in Kutzneria spp. 744.

Authors :Neumann CS , Jiang W , Heemstra JR Jr , Gontang EA , Kolter R , Walsh CT

Published On :2012 May 7

Journal Article Research Support, N.I.H., Extramural

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Authors :Talkowski ME , Rosenfeld JA , Blumenthal I , Pillalamarri V , Chiang C , Heilbut A , Ernst C , Hanscom C , Rossin E , Lindgren AM , Pereira S , Ruderfer D , Kirby A , Ripke S , Harris DJ , Lee JH , Ha K , Kim HG , Solomon BD , Gropman AL , Lucente D , Sims K , Ohsumi TK , Borowsky ML , Loranger S , Quade B , Lage K , Miles J , Wu BL , Shen Y , Neale B , Shaffer LG , Daly MJ , Morton CC , Gusella JF

Published On :2012 Apr 27

Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Authors :Chahrour MH , Yu TW , Lim ET , Ataman B , Coulter ME , Hill RS , Stevens CR , Schubert CR , ARRA Autism Sequencing Collaboration , Greenberg ME , Gabriel SB , Walsh CA

Published On :2012

Journal Article Research Support, American Recovery and Reinvestment Act Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

Authors :Reynolds JJ , Walker AK , Gilmore EC , Walsh CA , Caldecott KW

Published On :2012 Aug

Journal Article Research Support, Non-U.S. Gov't

Advanced reconstructive technologies for periodontal tissue repair.

Authors :Ramseier CA , Rasperini G , Batia S , Giannobile WV

Published On :2012 Jun

Journal Article Research Support, N.I.H., Extramural Review

Mitochondrial genome sequencing of chondrocytes in osteoarthritis by human mitochondria RT2 Profiler™ PCR array.

Authors :Li Z , Shen J , Chen Y , Pan J , Zeng H , Fang H , Ye Z , Zeng C , Zhang R , Cai D

Published On :2012 Jul

Journal Article Research Support, Non-U.S. Gov't

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.

Authors :Ameur A , Enroth S , Johansson A , Zaboli G , Igl W , Johansson AC , Rivas MA , Daly MJ , Schmitz G , Hicks AA , Meitinger T , Feuk L , van Duijn C , Oostra B , Pramstaller PP , Rudan I , Wright AF , Wilson JF , Campbell H , Gyllensten U

Published On :2012 May 4

Journal Article Research Support, Non-U.S. Gov't

Combining active-space coupled-cluster methods with moment energy corrections via the CC(P;Q) methodology, with benchmark calculations for biradical transition states.

Authors :Shen J , Piecuch P

Published On :2012 Apr 14

Journal Article

Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors :Poduri A , Evrony GD , Cai X , Elhosary PC , Beroukhim R , Lehtinen MK , Hills LB , Heinzen EL , Hill A , Hill RS , Barry BJ , Bourgeois BF , Riviello JJ , Barkovich AJ , Black PM , Ligon KL , Walsh CA

Published On :2012 Apr 12

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Systematic identification of edited microRNAs in the human brain.

Authors :Alon S , Mor E , Vigneault F , Church GM , Locatelli F , Galeano F , Gallo A , Shomron N , Eisenberg E

Published On :2012 Aug

Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Authors :Neale BM , Kou Y , Liu L , Ma'ayan A , Samocha KE , Sabo A , Lin CF , Stevens C , Wang LS , Makarov V , Polak P , Yoon S , Maguire J , Crawford EL , Campbell NG , Geller ET , Valladares O , Schafer C , Liu H , Zhao T , Cai G , Lihm J , Dannenfelser R , Jabado O , Peralta Z , Nagaswamy U , Muzny D , Reid JG , Newsham I , Wu Y , Lewis L , Han Y , Voight BF , Lim E , Rossin E , Kirby A , Flannick J , Fromer M , Shakir K , Fennell T , Garimella K , Banks E , Poplin R , Gabriel S , DePristo M , Wimbish JR , Boone BE , Levy SE , Betancur C , Sunyaev S , Boerwinkle E , Buxbaum JD , Cook EH Jr , Devlin B , Gibbs RA , Roeder K , Schellenberg GD , Sutcliffe JS , Daly MJ

Published On :2012 Apr 4

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't