Publications | International Center for Genetic Disease at Harvard Medical School

BMP signaling controls buckling forces to modulate looping morphogenesis of the gut.

Authors :Nerurkar NL , Mahadevan L , Tabin CJ

Published On :2017 Feb 28

Journal Article

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Authors :Kosmicki JA , Samocha KE , Howrigan DP , Sanders SJ , Slowikowski K , Lek M , Karczewski KJ , Cutler DJ , Devlin B , Roeder K , Buxbaum JD , Neale BM , MacArthur DG , Wall DP , Robinson EB , Daly MJ

Published On :2017 Apr

Journal Article

Non-invasive evaluation of facial crestal bone with ultrasonography.

Authors :Chan HL , Sinjab K , Chung MP , Chiang YC , Wang HL , Giannobile WV , Kripfgans OD

Published On :2017

Journal Article

Structure-Activity Relationship and Molecular Mechanics Reveal the Importance of Ring Entropy in the Biosynthesis and Activity of a Natural Product.

Authors :Tran HL , Lexa KW , Julien O , Young TS , Walsh CT , Jacobson MP , Wells JA

Published On :2017 Feb 22

Journal Article

Programmable transcriptional repression in mycobacteria using an orthogonal CRISPR interference platform.

Authors :Rock JM , Hopkins FF , Chavez A , Diallo M , Chase MR , Gerrick ER , Pritchard JR , Church GM , Rubin EJ , Sassetti CM , Schnappinger D , Fortune SM

Published On :2017 Feb 6

Journal Article

Detection the Frequency and Characteristics of FLT3 Internal Tandem Duplication Mutations by Capillary Electrophoresis Assay and Next-Generation Sequencing in.

Authors :Ma L , Cao Y , Jiang Y , Cong X , Lu S , Shen J , Liu Q , Han C , Zhan Y , Cao Y

Published On :2016 Oct 1

Journal Article

Simultaneous determination of metabolite concentrations, T(1) and T(2) relaxation times.

Authors :An L , Li S , Shen J

Published On :2017 Dec

Journal Article

A Temporal Perspective on the Interplay of Demography and Selection on Deleterious Variation in Humans.

Authors :Koch E , Novembre J

Published On :2017 Mar 10

Journal Article

sgRNA Scorer 2.0: A Species-Independent Model To Predict CRISPR/Cas9 Activity.

Authors :Chari R , Yeo NC , Chavez A , Church GM

Published On :2017 May 19

Journal Article

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom.

Authors :Chheda H , Palta P , Pirinen M , McCarthy S , Walter K , Koskinen S , Salomaa V , Daly M , Durbin R , Palotie A , Aittokallio T , Ripatti S

Published On :2017 Apr

Journal Article

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Authors :Aldubayan SH , Rodan LH , Berry GT , Levy HL

Published On :2017 Feb

Journal Article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Authors :Küry S , Besnard T , Ebstein F , Khan TN , Gambin T , Douglas J , Bacino CA , Craigen WJ , Sanders SJ , Lehmann A , Latypova X , Khan K , Pacault M , Sacharow S , Glaser K , Bieth E , Perrin-Sabourin L , Jacquemont ML , Cho MT , Roeder E , Denommé-Pichon AS , Monaghan KG , Yuan B , Xia F , Simon S , Bonneau D , Parent P , Gilbert-Dussardier B , Odent S , Toutain A , Pasquier L , Barbouth D , Shaw CA , Patel A , Smith JL , Bi W , Schmitt S , Deb W , Nizon M , Mercier S , Vincent M , Rooryck C , Malan V , Briceño I , Gómez A , Nugent KM , Gibson JB , Cogné B , Lupski JR , Stessman HAF , Eichler EE , Retterer K , Yang Y , Redon R , Katsanis N , Rosenfeld JA , Kloetzel PM , Golzio C , Bézieau S , Stankiewicz P , Isidor B

Published On :2017 Feb 2

Journal Article

Sodium-myoinositol cotransporter-1, SMIT1, mediates the production of reactive oxygen species induced by hyperglycemia in the heart.

Authors :Van Steenbergen A , Balteau M , Ginion A , Ferté L , Battault S , Ravenstein CM , Balligand JL , Daskalopoulos EP , Gilon P , Despa F , Despa S , Vanoverschelde JL , Horman S , Koepsell H , Berry G , Hue L , Bertrand L , Beauloye C

Published On :2017 Jan 27

Journal Article

At the Intersection of Chemistry, Biology, and Medicine.

Authors :Walsh CT

Published On :2017 Jun 20

Historical Article Journal Article Review

Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.

Authors :Ghazani AA , Oliver NM , St Pierre JP , Garofalo A , Rainville IR , Hiller E , Treacy DJ , Rojas-Rudilla V , Wood S , Bair E , Parello M , Huang F , Giannakis M , Wilson FH , Stover EH , Corsello SM , Nguyen T , Rana HQ , Church AJ , Lowenstein C , Cibulskis C , Amin-Mansour A , Heng J , Brais L , Santos A , Bauer P , Waldron A , Lo P , Gorman M , Lydon CA , Welch M , McNamara P , Gabriel S , Sholl LM , Lindeman NI , Garber JE , Joffe S , Van Allen EM , Gray SW , Ja Nne PA , Garraway LA , Wagle N

Published On :2017 Jul

Journal Article