Publications | International Center for Genetic Disease at Harvard Medical School

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Authors :Alfares AA , Kelly MA , McDermott G , Funke BH , Lebo MS , Baxter SB , Shen J , McLaughlin HM , Clark EH , Babb LJ , Cox SW , DePalma SR , Ho CY , Seidman JG , Seidman CE , Rehm HL

Published On :2015 Apr

Published Erratum

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Authors :Cai X , Evrony GD , Lehmann HS , Elhosary PC , Mehta BK , Poduri A , Walsh CA

Published On :2015 Feb 3

Published Erratum

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Authors :Ahmed MY , Chioza BA , Rajab A , Schmitz-Abe K , Al-Khayat A , Al-Turki S , Baple EL , Patton MA , Al-Memar AY , Hurles ME , Partlow JN , Hill RS , Evrony GD , Servattalab S , Markianos K , Walsh CA , Crosby AH , Mochida GH

Published On :2015 Apr 28

Journal Article

The Pseudomonas aeruginosa antimetabolite L -2-amino-4-methoxy-trans-3-butenoic acid (AMB) is made from glutamate and two alanine residues via a thiotemplate-linked tripeptide precursor.

Authors :Rojas Murcia N , Lee X , Waridel P , Maspoli A , Imker HJ , Chai T , Walsh CT , Reimmann C

Published On :2015

Journal Article

Prognostic CT and MR imaging features in patients with untreated extranodal non-Hodgkin lymphoma of the head and neck region.

Authors :Zhou C , Duan X , Lan B , Liao J , Shen J

Published On :2015 Oct

Journal Article

Precision Chemistry for Precision Medicine.

Authors :Church GM

Published On :2015 Mar 25

News

Kaempferol pretreatment modulates systemic inflammation and oxidative stress following hemorrhagic shock in mice.

Authors :Yang QS , He LP , Zhou XL , Zhao Y , Shen J , Xu P , Ni SZ

Published On :2015

Journal Article

Angiogenic markers in pregnancies conceived through in vitro fertilization.

Authors :Lee MS , Cantonwine D , Little SE , McElrath TF , Parry SI , Lim KH , Wilkins-Haug LE

Published On :2015 Aug

Journal Article

Biotechnology. A prudent path forward for genomic engineering and germline gene modification.

Authors :Baltimore D , Berg P , Botchan M , Carroll D , Charo RA , Church G , Corn JE , Daley GQ , Doudna JA , Fenner M , Greely HT , Jinek M , Martin GS , Penhoet E , Puck J , Sternberg SH , Weissman JS , Yamamoto KR

Published On :2015 Apr 3

Journal Article

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.

Authors :Kavanagh D , Yu Y , Schramm EC , Triebwasser M , Wagner EK , Raychaudhuri S , Daly MJ , Atkinson JP , Seddon JM

Published On :2015 Jul 1

Journal Article

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Authors :Thaker VV , Esteves KM , Towne MC , Brownstein CA , James PM , Crowley L , Hirschhorn JN , Elsea SH , Beggs AH , Picker J , Agrawal PB

Published On :2015 May

Journal Article

XIRP2, an actin-binding protein essential for inner ear hair-cell stereocilia.

Authors :Scheffer DI , Zhang DS , Shen J , Indzhykulian A , Karavitaki KD , Xu YJ , Wang Q , Lin JJ , Chen ZY , Corey DP

Published On :2015 Mar 24

Journal Article

Effects of immunosuppressants on immune response to vaccine in inflammatory bowel disease.

Authors :Cao Y , Zhao D , Xu AT , Shen J , Ran ZH

Published On :2015 Mar 20

Journal Article Review

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

Authors :Onengut-Gumuscu S , Chen WM , Burren O , Cooper NJ , Quinlan AR , Mychaleckyj JC , Farber E , Bonnie JK , Szpak M , Schofield E , Achuthan P , Guo H , Fortune MD , Stevens H , Walker NM , Ward LD , Kundaje A , Kellis M , Daly MJ , Barrett JC , Cooper JD , Deloukas P , Type 1 Diabetes Genetics Consortium , Todd JA , Wallace C , Concannon P , Rich SS

Published On :2015 Apr

Journal Article

Efficient differentiation of steroidogenic and germ-like cells from epigenetically-related iPSCs derived from ovarian granulosa cells.

Authors :Anchan R , Gerami-Naini B , Lindsey JS , Ho JW , Kiezun A , Lipskind S , Ng N , LiCausi JA , Kim CS , Brezina P , Tuschl T , Maas R , Kearns WG , Williams Z

Published On :2015

Journal Article