Publications | International Center for Genetic Disease at Harvard Medical School

TBDB: a database of structurally annotated T-box riboswitch:tRNA pairs.

Authors :Marchand JA , Pierson Smela MD , Jordan THH , Narasimhan K , Church GM

Published On :2021 Jan 8

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

Pretreatment structural and arterial spin labeling MRI is predictive for p53 mutation in high-grade gliomas.

Authors :Mao J , Deng D , Yang Z , Wang W , Cao M , Huang Y , Shen J

Published On :2020 Nov 1

Journal Article

Phylogenetic analysis of SARS-CoV-2 in the Boston area highlights the role of recurrent importation and superspreading events.

Authors :Lemieux JE , Siddle KJ , Shaw BM , Loreth C , Schaffner SF , Gladden-Young A , Adams G , Fink T , Tomkins-Tinch CH , Krasilnikova LA , DeRuff KC , Rudy M , Bauer MR , Lagerborg KA , Normandin E , Chapman SB , Reilly SK , Anahtar MN , Lin AE , Carter A , Myhrvold C , Kemball ME , Chaluvadi S , Cusick C , Flowers K , Neumann A , Cerrato F , Farhat M , Slater D , Harris JB , Branda J , Hooper D , Gaeta JM , Baggett TP , O'Connell J , Gnirke A , Lieberman TD , Philippakis A , Burns M , Brown CM , Luban J , Ryan ET , Turbett SE , LaRocque RC , Hanage WP , Gallagher GR , Madoff LC , Smole S , Pierce VM , Rosenberg E , Sabeti PC , Park DJ , Maclnnis BL

Published On :2020 Aug 25

Preprint Journal Article

Local and Interregional Neurochemical Associations Measured by Magnetic Resonance Spectroscopy for Studying Brain Functions and Psychiatric Disorders.

Authors :Shen J , Shenkar D , An L , Tomar JS

Published On :2020

Journal Article Review

Optimal trough levels in haemophilia B: Raising expectations.

Authors :Walsh C , Coppens M , Escobar M , Wang M

Published On :2020 Nov

Letter

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.

Authors :Li X , Li Z , Zhou H , Gaynor SM , Liu Y , Chen H , Sun R , Dey R , Arnett DK , Aslibekyan S , Ballantyne CM , Bielak LF , Blangero J , Boerwinkle E , Bowden DW , Broome JG , Conomos MP , Correa A , Cupples LA , Curran JE , Freedman BI , Guo X , Hindy G , Irvin MR , Kardia SLR , Kathiresan S , Khan AT , Kooperberg CL , Laurie CC , Liu XS , Mahaney MC , Manichaikul AW , Martin LW , Mathias RA , McGarvey ST , Mitchell BD , Montasser ME , Moore JE , Morrison AC , O'Connell JR , Palmer ND , Pampana A , Peralta JM , Peyser PA , Psaty BM , Redline S , Rice KM , Rich SS , Smith JA , Tiwari HK , Tsai MY , Vasan RS , Wang FF , Weeks DE , Weng Z , Wilson JG , Yanek LR , NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium , TOPMed Lipids Working Group , Neale BM , Sunyaev SR , Abecasis GR , Rotter JI , Willer CJ , Peloso GM , Natarajan P , Lin X

Published On :2020 Sep

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

Deformations of Ti-6Al-4V additive-manufacturing-induced isotropic and anisotropic columnar structures: Insitu measurements and underlying mechanisms.

Authors :Tseng JC , Huang WC , Chang W , Jeromin A , Keller TF , Shen J , Chuang AC , Wang CC , Lin BH , Amalia L , Tsou NT , Shih SJ , Huang EW

Published On :2020 Oct

Journal Article

How Will Machine Learning Inform the Clinical Care of Atrial Fibrillation?

Authors :Siontis KC , Yao X , Pirruccello JP , Philippakis AA , Noseworthy PA

Published On :2020 Jun 19

Journal Article Review

Robust differentiation of human pluripotent stem cells into endothelial cells via temporal modulation of ETV2 with modified mRNA.

Authors :Wang K , Lin RZ , Hong X , Ng AH , Lee CN , Neumeyer J , Wang G , Wang X , Ma M , Pu WT , Church GM , Melero-Martin JM

Published On :2020 Jul

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

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.

Authors :Shayota BJ , Donti TR , Xiao J , Gijavanekar C , Kennedy AD , Hubert L , Rodan L , Vanderpluym C , Nowak C , Bjornsson HT , Ganetzky R , Berry GT , Pappan KL , Sutton VR , Sun Q , Elsea SH

Published On :2020 Sep-Oct

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

The COVID-19 XPRIZE and the need for scalable, fast, and widespread testing.

Authors :MacKay MJ , Hooker AC , Afshinnekoo E , Salit M , Kelly J , Feldstein JV , Haft N , Schenkel D , Nambi S , Cai Y , Zhang F , Church G , Dai J , Wang CL , Levy S , Huber J , Ji HP , Kriegel A , Wyllie AL , Mason CE

Published On :2020 Sep

Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.

Authors :Schmitz-Abe K , Sanchez-Schmitz G , Doan RN , Hill RS , Chahrour MH , Mehta BK , Servattalab S , Ataman B , Lam AN , Morrow EM , Greenberg ME , Yu TW , Walsh CA , Markianos K

Published On :2020 Aug 20

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

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Authors :Fahed AC , Wang M , Homburger JR , Patel AP , Bick AG , Neben CL , Lai C , Brockman D , Philippakis A , Ellinor PT , Cassa CA , Lebo M , Ng K , Lander ES , Zhou AY , Kathiresan S , Khera AV

Published On :2020 Aug 20

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

APP gene copy number changes reflect exogenous contamination.

Authors :Kim J , Zhao B , Huang AY , Miller MB , Lodato MA , Walsh CA , Lee EA

Published On :2020 Aug

Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Comment

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

Authors :Boskovski MT , Homsy J , Nathan M , Sleeper LA , Morton S , Manheimer KB , Tai A , Gorham J , Lewis M , Swartz M , Alfieris GM , Bacha EA , Karimi M , Meyer D , Nguyen K , Bernstein D , Romano-Adesman A , Porter GA Jr , Goldmuntz E , Chung WK , Srivastava D , Kaltman JR , Tristani-Firouzi M , Lifton R , Roberts AE , Gaynor JW , Gelb BD , Kim R , Seidman JG , Brueckner M , Mayer JE Jr , Newburger JW , Seidman CE

Published On :2020 Aug

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