Publications | International Center for Genetic Disease at Harvard Medical School

Prediction performance and fairness heterogeneity in cardiovascular risk models.

Authors :Kartoun U , Khurshid S , Kwon BC , Patel AP , Batra P , Philippakis A , Khera AV , Ellinor PT , Lubitz SA , Ng K

Published On :2022 Jul 22

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

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.

Authors :Kozycki CT , Kodati S , Huryn L , Wang H , Warner BM , Jani P , Hammoud D , Abu-Asab MS , Jittayasothorn Y , Mattapallil MJ , Tsai WL , Ullah E , Zhou P , Tian X , Soldatos A , Moutsopoulos N , Kao-Hsieh M , Heller T , Cowen EW , Lee CR , Toro C , Kalsi S , Khavandgar Z , Baer A , Beach M , Long Priel D , Nehrebecky M , Rosenzweig S , Romeo T , Deuitch N , Brenchley L , Pelayo E , Zein W , Sen N , Yang AH , Farley G , Sweetser DA , Briere L , Yang J , de Oliveira Poswar F , Schwartz IVD , Silva Alves T , Dusser P , Koné-Paut I , Touitou I , Titah SM , van Hagen PM , van Wijck RTA , van der Spek PJ , Yano H , Benneche A , Apalset EM , Jansson RW , Caspi RR , Kuhns DB , Gadina M , Takada H , Ida H , Nishikomori R , Verrecchia E , Sangiorgi E , Manna R , Brooks BP , Sobrin L , Hufnagel RB , Beck D , Shao F , Ombrello AK , Aksentijevich I , Kastner DL , Undiagnosed Diseases Network

Published On :2022 Oct

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

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Authors :Ellingford JM , Ahn JW , Bagnall RD , Baralle D , Barton S , Campbell C , Downes K , Ellard S , Duff-Farrier C , FitzPatrick DR , Greally JM , Ingles J , Krishnan N , Lord J , Martin HC , Newman WG , O'Donnell-Luria A , Ramsden SC , Rehm HL , Richardson E , Singer-Berk M , Taylor JC , Williams M , Wood JC , Wright CF , Harrison SM , Whiffin N

Published On :2022 Jul 19

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

NF-κB Inducing Kinase Regulates Intestinal Immunity and Homeostasis.

Authors :Wang B , Shen J

Published On :2022

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

Massively targeted evaluation of therapeutic CRISPR off-targets in cells.

Authors :Pan X , Qu K , Yuan H , Xiang X , Anthon C , Pashkova L , Liang X , Han P , Corsi GI , Xu F , Liu P , Zhong J , Zhou Y , Ma T , Jiang H , Liu J , Wang J , Jessen N , Bolund L , Yang H , Xu X , Church GM , Gorodkin J , Lin L , Luo Y

Published On :2022 Jul 13

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

Preoperative Prediction of the Aggressiveness of Oral Tongue Squamous Cell Carcinoma with Quantitative Parameters from Dual-Energy Computed Tomography.

Authors :Yang X , Hu H , Zhang F , Li D , Yang Z , Shi G , Lu G , Jiang Y , Yang L , Wang Y , Duan X , Shen J

Published On :2022

Journal Article

The environmental enrichment ameliorates chronic unpredictable mild stress-induced depressive-like behaviors and cognitive decline by inducing autophagy-mediated inflammation inhibition.

Authors :Xu L , Sun H , Qu C , Shen J , Qu C , Song H , Li T , Zheng J , Zhang J

Published On :2022 Sep

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

Anatomy-based characteristics of far-field SVC electrograms in right superior pulmonary veins after isolation.

Authors :Gu W , Liu W , Li J , Shen J , Pan J , Wu B , Shi H , Luo X , Xiong N

Published On :2022 Dec

Journal Article

Reply of the Authors: The Waldo of fibroids under the microscope: fumarate hydratase-deficient leiomyomata.

Authors :Rivera-Cruz G , Boyraz B , Petrozza JC

Published On :2022 Jun

Journal Article

Changes in salivary biomarkers associated with periodontitis and diabetic neuropathy in individuals with type 1 diabetes.

Authors :Steigmann L , Maekawa S , Kauffmann F , Reiss J , Cornett A , Sugai J , Venegas J , Fan X , Xie Y , Giannobile WV , Pop-Busui R , Lombaert IMA

Published On :2022 Jul 4

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

A convolutional neural network highlights mutations relevant to antimicrobial resistance in Mycobacterium tuberculosis.

Authors :Green AG , Yoon CH , Chen ML , Ektefaie Y , Fina M , Freschi L , Gröschel MI , Kohane I , Beam A , Farhat M

Published On :2022 Jul 2

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

An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.

Authors :Koeller DR , Manning DK , Schwartz A , Chittenden A , Hayes CP , Abraamyan F , Rana HQ , Lindeman NI , Garber JE , Ghazani AA

Published On :2022

Journal Article

Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.

Authors :Agrawal S , Wang M , Klarqvist MDR , Smith K , Shin J , Dashti H , Diamant N , Choi SH , Jurgens SJ , Ellinor PT , Philippakis A , Claussnitzer M , Ng K , Udler MS , Batra P , Khera AV

Published On :2022 Jun 30

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

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene.

Authors :Zhao B , Madden JA , Lin J , Berry GT , Wojcik MH , Zhao X , Brand H , Talkowski M , Lee EA , Agrawal PB

Published On :2022 Sep

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

Genotype imputation and polygenic score estimation in northwestern Russian population.

Authors :Kolosov N , Rezapova V , Rotar O , Loboda A , Freylikhman O , Melnik O , Sergushichev A , Stevens C , Voortman T , Kostareva A , Konradi A , Daly MJ , Artomov M

Published On :2022

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