Publications | International Center for Genetic Disease at Harvard Medical School

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Authors :Hemati P , Revah-Politi A , Bassan H , Petrovski S , Bilancia CG , Ramsey K , Griffin NG , Bier L , Cho MT , Rosello M , Lynch SA , Colombo S , Weber A , Haug M , Heinzen EL , Sands TT , Narayanan V , Primiano M , Aggarwal VS , Millan F , Sattler-Holtrop SG , Caro-Llopis A , Pillar N , Baker J , Freedman R , Kroes HY , Sacharow S , Stong N , Lapunzina P , Schneider MC , Mendelsohn NJ , Singleton A , Loik Ramey V , Wou K , Kuzminsky A , Monfort S , Weiss M , Doyle S , Iglesias A , Martinez F , Mckenzie F , Orellana C , van Gassen KLI , Palomares M , Bazak L , Lee A , Bircher A , Basel-Vanagaite L , Hafström M , Houge G , C4RCD Research Group , DDD study , Goldstein DB , Anyane-Yeboa K

Published On :2018 Nov

Journal Article Review

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Authors :Gormley P , Kurki MI , Hiekkala ME , Veerapen K , Häppölä P , Mitchell AA , Lal D , Palta P , Surakka I , Kaunisto MA , Hämäläinen E , Vepsäläinen S , Havanka H , Harno H , Ilmavirta M , Nissilä M , Säkö E , Sumelahti ML , Liukkonen J , Sillanpää M , Metsähonkala L , Koskinen S , Lehtimäki T , Raitakari O , Männikkö M , Ran C , Belin AC , Jousilahti P , Anttila V , Salomaa V , Artto V , Färkkilä M , 23andMe Research Team , International Headache Genetics Consortium (IHGC) , Runz H , Daly MJ , Neale BM , Ripatti S , Kallela M , Wessman M , Palotie A

Published On :2018 Sep 5

Published Erratum

The association between sixteen genome-wide association studies-related allergic diseases loci and childhood allergic rhinitis in a Chinese Han population.

Authors :Li Y , Chen J , Rui X , Li N , Jiang F , Shen J

Published On :2018 Nov

Journal Article

novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data.

Authors :Mohanty AK , Vuzman D , Francioli L , Cassa C , Brigham Genomic Medicine , Undiagnosed Diseases Network , Brigham and Women’s Hospital FaceBase Project , Toth-Petroczy A , Sunyaev S

Published On :2019 Apr 1

Journal Article

Loss of LDAH associated with prostate cancer and hearing loss.

Authors :Currall BB , Chen M , Sallari RC , Cotter M , Wong KE , Robertson NG , Penney KL , Lunardi A , Reschke M , Hickox AE , Yin Y , Wong GT , Fung J , Brown KK , Williamson RE , Sinnott-Armstrong NA , Kammin T , Ivanov A , Zepeda-Mendoza CJ , Shen J , Quade BJ , Signoretti S , Arnos KS , Banks AS , Patsopoulos N , Liberman MC , Kellis M , Pandolfi PP , Morton CC

Published On :2018 Dec 15

Journal Article

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.

Authors :Lanktree MB , Iliuta IA , Haghighi A , Song X , Pei Y

Published On :2019 Sep 1

Journal Article Review

Establishing a Cell-Free Vibrio natriegens Expression System.

Authors :Wiegand DJ , Lee HH , Ostrov N , Church GM

Published On :2018 Oct 19

Journal Article

Enzymatic Cascade Reactions in Biosynthesis.

Authors :Walsh CT , Moore BS

Published On :2019 May 20

Journal Article Review

Axillary Sentinel Lymph Nodes in Breast Cancer: Quantitative Evaluation at Dual-Energy CT.

Authors :Zhang X , Zheng C , Yang Z , Cheng Z , Deng H , Chen M , Duan X , Mao J , Shen J

Published On :2018 Nov

Journal Article

Rainer W. Guillery and the genetic analysis of brain development.

Authors :Walsh CA

Published On :2019 Apr

Biography Historical Article Journal Article Review

Tissue Engineered Constructs for Periodontal Regeneration: Current Status and Future Perspectives.

Authors :Vaquette C , Pilipchuk SP , Bartold PM , Hutmacher DW , Giannobile WV , Ivanovski S

Published On :2018 Nov

Journal Article Review

Synthesis of cellulose carbamates bearing regioselective substituents at 2,3- and 6-positions for efficient chromatographic enantioseparation.

Authors :Shen J , Wang F , Bi W , Liu B , Liu S , Okamoto Y

Published On :2018 Oct 19

Journal Article

Sodium Channel SCN3A (Na(V)1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Authors :Smith RS , Kenny CJ , Ganesh V , Jang A , Borges-Monroy R , Partlow JN , Hill RS , Shin T , Chen AY , Doan RN , Anttonen AK , Ignatius J , Medne L , Bönnemann CG , Hecht JL , Salonen O , Barkovich AJ , Poduri A , Wilke M , de Wit MCY , Mancini GMS , Sztriha L , Im K , Amrom D , Andermann E , Paetau R , Lehesjoki AE , Walsh CA , Lehtinen MK

Published On :2018 Sep 5

Journal Article

Low dose of azathioprine is effective to induce and maintain remission in active Crohn disease: A prospective observational study.

Authors :Qian X , Wang T , Shen J , Ran Z

Published On :2018 Aug

Journal Article

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Authors :Zekavat SM , Ruotsalainen S , Handsaker RE , Alver M , Bloom J , Poterba T , Seed C , Ernst J , Chaffin M , Engreitz J , Peloso GM , Manichaikul A , Yang C , Ryan KA , Fu M , Johnson WC , Tsai M , Budoff M , Vasan RS , Cupples LA , Rotter JI , Rich SS , Post W , Mitchell BD , Correa A , Metspalu A , Wilson JG , Salomaa V , Kellis M , Daly MJ , Neale BM , McCarroll S , Surakka I , Esko T , Ganna A , Ripatti S , Kathiresan S , Natarajan P , NHLBI TOPMed Lipids Working Group

Published On :2018 Aug 23

Journal Article Published Erratum