Publications | International Center for Genetic Disease at Harvard Medical School

Spatial Sequencing: A Perspective.

Authors :Turczyk BM , Busby M , Martin AL , Daugharthy ER , Myung D , Terry RC , Inverso SA , Kohman RE , Church GM

Published On :2020 Jul

Journal Article

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

Authors :Pirruccello JP , Bick A , Wang M , Chaffin M , Friedman S , Yao J , Guo X , Venkatesh BA , Taylor KD , Post WS , Rich S , Lima JAC , Rotter JI , Philippakis A , Lubitz SA , Ellinor PT , Khera AV , Kathiresan S , Aragam KG

Published On :2020 May 7

Journal Article

The inherent challenges of classifying senescence-Response.

Authors :Calimport SRG , Bentley BL , Stewart CE , Pawelec G , Scuteri A , Vinciguerra M , Slack C , Chen D , Harries LW , Marchant G , Fleming GA , Conboy M , Antebi A , Small GW , Gil J , Lakatta EG , Richardson A , Rosen C , Nikolich K , Wyss-Coray T , Steinman L , Montine T , de Magalhães JP , Campisi J , Church G

Published On :2020 May 8

Letter Comment

Correction: Nickel-catalyzed cyanation of phenol derivatives activated by 2,4,6-trichloro-1,3,5-triazine.

Authors :Wang L , Wang Y , Shen J , Chen Q , He MY

Published On :2020 May 20

Published Erratum

Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research.

Authors :Mealer RG , Williams SE , Daly MJ , Scolnick EM , Cummings RD , Smoller JW

Published On :2020 Dec

Journal Article Review

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors :Castilla-Vallmanya L , Selmer KK , Dimartino C , Rabionet R , Blanco-Sánchez B , Yang S , Reijnders MRF , van Essen AJ , Oufadem M , Vigeland MD , Stadheim B , Houge G , Cox H , Kingston H , Clayton-Smith J , Innis JW , Iascone M , Cereda A , Gabbiadini S , Chung WK , Sanders V , Charrow J , Bryant E , Millichap J , Vitobello A , Thauvin C , Mau-Them FT , Faivre L , Lesca G , Labalme A , Rougeot C , Chatron N , Sanlaville D , Christensen KM , Kirby A , Lewandowski R , Gannaway R , Aly M , Lehman A , Clarke L , Graul-Neumann L , Zweier C , Lessel D , Lozic B , Aukrust I , Peretz R , Stratton R , Smol T , Dieux-Coëslier A , Meira J , Wohler E , Sobreira N , Beaver EM , Heeley J , Briere LC , High FA , Sweetser DA , Walker MA , Keegan CE , Jayakar P , Shinawi M , Kerstjens-Frederikse WS , Earl DL , Siu VM , Reesor E , Yao T , Hegele RA , Vaske OM , Rego S , Undiagnosed Diseases Network, Care4Rare Canada Consortium , Shapiro KA , Wong B , Gambello MJ , McDonald M , Karlowicz D , Colombo R , Serretti A , Pais L , O'Donnell-Luria A , Wray A , Sadedin S , Chong B , Tan TY , Christodoulou J , White SM , Slavotinek A , Barbouth D , Morel Swols D , Parisot M , Bole-Feysot C , Nitschké P , Pingault V , Munnich A , Cho MT , Cormier-Daire V , Balcells S , Lyonnet S , Grinberg D , Amiel J , Urreizti R , Gordon CT

Published On :2020 Jul

Journal Article

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Authors :Tanigawa Y , Wainberg M , Karjalainen J , Kiiskinen T , Venkataraman G , Lemmelä S , Turunen JA , Graham RR , Havulinna AS , Perola M , Palotie A , FinnGen , Daly MJ , Rivas MA

Published On :2020 May

Journal Article

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Authors :Edwards JJ , Rouillard AD , Fernandez NF , Wang Z , Lachmann A , Shankaran SS , Bisgrove BW , Demarest B , Turan N , Srivastava D , Bernstein D , Deanfield J , Giardini A , Porter G , Kim R , Roberts AE , Newburger JW , Goldmuntz E , Brueckner M , Lifton RP , Seidman CE , Chung WK , Tristani-Firouzi M , Yost HJ , Ma'ayan A , Gelb BD

Published On :2020 Apr

Journal Article

Systematic review of mutations associated with resistance to the new and repurposed Mycobacterium tuberculosis drugs bedaquiline, clofazimine, linezolid, delamanid and pretomanid.

Authors :Kadura S , King N , Nakhoul M , Zhu H , Theron G , Köser CU , Farhat M

Published On :2020 Aug 1

Journal Article

Effects of noise and linewidth on in vivo analysis of glutamate at 3 T.

Authors :Zhang Y , Shen J

Published On :2020 May

Journal Article

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Authors :Dutta D , Briere LC , Kanca O , Marcogliese PC , Walker MA , High FA , Vanderver A , Krier J , Carmichael N , Callahan C , Taft RJ , Simons C , Helman G , Network UD , Wangler MF , Yamamoto S , Sweetser DA , Bellen HJ

Published On :2020 Jun 3

Journal Article

X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2.

Authors :Wang T , Wang Y , Dong Q , Xu C , Zhou X , Ouyang Y , Liu Y , Lee JJ , Hu N , Wang K , Zdravkovic TP , Shen J , Nie G , Lian CG , Liu Y

Published On :2020 Mar

Journal Article

Plastome Evolution in Dolomiaea (Asteraceae, Cardueae) Using Phylogenomic and Comparative Analyses.

Authors :Shen J , Zhang X , Landis JB , Zhang H , Deng T , Sun H , Wang H

Published On :2020

Journal Article

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.

Authors :Patel AP , Wang M , Fahed AC , Mason-Suares H , Brockman D , Pelletier R , Amr S , Machini K , Hawley M , Witkowski L , Koch C , Philippakis A , Cassa CA , Ellinor PT , Kathiresan S , Ng K , Lebo M , Khera AV

Published On :2020 Apr 1

Journal Article

TNF-α-induced p53 activation induces apoptosis in neurological injury.

Authors :Shao X , Yang X , Shen J , Chen S , Jiang X , Wang Q , Di Q

Published On :2020 Jun

Journal Article