Publications | International Center for Genetic Disease at Harvard Medical School

The role of timing in the development and evolution of the limb.

Authors :Zhu M , Tabin CJ

Published On :2023

Journal Article Review

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.

Authors :Monda E , Prosnitz A , Aiello R , Lioncino M , Norrish G , Caiazza M , Drago F , Beattie M , Tartaglia M , Russo MG , Colan SD , Calcagni G , Gelb BD , Kaski JP , Roberts AE , Limongelli G

Published On :2023 Aug

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

De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

Authors :Smits DJ , Schot R , Popescu CA , Dias KR , Ades L , Briere LC , Sweetser DA , Kushima I , Aleksic B , Khan S , Karageorgou V , Ordonez N , Sleutels FJGT , van der Kaay DCM , Van Mol C , Van Esch H , Bertoli-Avella AM , Roscioli T , Mancini GMS

Published On :2023 Jul

Journal Article

Building a collaborative cloud platform to accelerate heart, lung, blood, and sleep research.

Authors :Ahalt S , Avillach P , Boyles R , Bradford K , Cox S , Davis-Dusenbery B , Grossman RL , Krishnamurthy A , Manning A , Paten B , Philippakis A , Borecki I , Chen SH , Kaltman J , Ladwa S , Schwartz C , Thomson A , Davis S , Leaf A , Lyons J , Sheets E , Bis JC , Conomos M , Culotti A , Desain T , Digiovanna J , Domazet M , Gogarten S , Gutierrez-Sacristan A , Harris T , Heavner B , Jain D , O'Connor B , Osborn K , Pillion D , Pleiness J , Rice K , Rupp G , Serret-Larmande A , Smith A , Stedman JP , Stilp A , Barsanti T , Cheadle J , Erdmann C , Farlow B , Gartland-Gray A , Hayes J , Hiles H , Kerr P , Lenhardt C , Madden T , Mieczkowska JO , Miller A , Patton P , Rathbun M , Suber S , Asare J

Published On :2023 Jun 20

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

Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.

Authors :Zhang Y , Dron JS , Bellows BK , Khera AV , Liu J , Balte PP , Oelsner EC , Amr SS , Lebo MS , Nagy A , Peloso GM , Natarajan P , Rotter JI , Willer C , Boerwinkle E , Ballantyne CM , Lutsey PL , Fornage M , Lloyd-Jones DM , Hou L , Psaty BM , Bis JC , Floyd JS , Vasan RS , Heard-Costa NL , Carson AP , Hall ME , Rich SS , Guo X , Kazi DS , de Ferranti SD , Moran AE

Published On :2023 May 16

Letter Research Support, N.I.H., Extramural

Quantification of spatially localized MRS by a novel deep learning approach without spectral fitting.

Authors :Zhang Y , Shen J

Published On :2023 Oct

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

The effect of JuanBiQiangGu granules in combination with methotrexate on joint inflammation in rheumatoid arthritis: a randomized controlled trial.

Authors :Ran L , Xu B , Han HH , Wang JY , A XY , Cao BR , Meng XH , Zhang CB , Xin PF , Qiu GW , Xiang Z , Pei SQ , Gao CX , Shen J , Zhong S , Xu XR , Bian YQ , Xie J , Shi Q , Sun ST , Xiao LB

Published On :2023

Journal Article

Correction to: Pathogenic variants among females with breast cancer and a non‑breast cancer reveal opportunities for cancer interception.

Authors :Bychkovsky BL , Lo MT , Yussuf A , Horton C , Hemyari P , LaDuca H , Garber JE , Scheib R , Rana HQ

Published On :2023 Jul

Published Erratum

Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.

Authors :Jang MY , Patel PN , Pereira AC , Willcox JAL , Haghighi A , Tai AC , Ito K , Morton SU , Gorham JM , McKean DM , DePalma SR , Bernstein D , Brueckner M , Chung WK , Giardini A , Goldmuntz E , Kaltman JR , Kim R , Newburger JW , Shen Y , Srivastava D , Tristani-Firouzi M , Gelb BD , Porter GA Jr , Seidman CE , Seidman JG

Published On :2023 Jun

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

Photoalignment of sub-micrometer periodic liquid crystal polarization grating by using the optical imprinting method.

Authors :Fang Q , Lv Y , Yan Z , Sun X , Shen J , Liu M , Wang T , Chen J , Yin S

Published On :2023 Apr 10

Journal Article

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.

Authors :Liu Z , Liu R , Gao H , Jung S , Gao X , Sun R , Liu X , Kim Y , Lee HS , Kawai Y , Nagasaki M , Umeno J , Tokunaga K , Kinouchi Y , Masamune A , Shi W , Shen C , Guo Z , Yuan K , FinnGen , International Inflammatory Bowel Disease Genetics Consortium , Chinese Inflammatory Bowel Disease Genetics Consortium , Zhu S , Li D , Liu J , Ge T , Cho J , Daly MJ , McGovern DPB , Ye BD , Song K , Kakuta Y , Li M , Huang H

Published On :2023 May

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

Identification of complement factor H variants that predispose to pre-eclampsia: A genetic and functional study.

Authors :Lokki AI , Ren Z , Triebwasser M , Daly E , FINNPEC , Perola M , Auro K , Burwick R , Salmon JE , Daly M , Laivuori H , Atkinson JP , Java A , Meri S

Published On :2023 Nov

Journal Article

Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

Authors :Gold NB , Adelson SM , Shah N , Williams S , Bick SL , Zoltick ES , Gold JI , Strong A , Ganetzky R , Roberts AE , Walker M , Holtz AM , Sankaran VG , Delmonte O , Tan W , Holm IA , Thiagarajah JR , Kamihara J , Comander J , Place E , Wiggs J , Green RC

Published On :2023 May 1

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

Platelet-to-Lymphocyte Ratio (PLR) as the Prognostic Factor for Recurrence/Residual Disease in HSIL Patients After LEEP.

Authors :Huang G , Gao H , Chen Y , Lin W , Shen J , Xu S , Liu D , Wu Z , Lin X , Jiang T , Dong B , Sun P

Published On :2023

Journal Article

Red blood cell distribution width to platelet ratio predicts early neurological deterioration in acute ischemic stroke patients receiving intravenous thrombolysis.

Authors :Jiang M , Shen J , Muhammad B , Geng D

Published On :2023 Jul

Journal Article