Publications | International Center for Genetic Disease at Harvard Medical School

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.

Authors :Adam MP , Feldman J , Mirzaa GM , Pagon RA , Wallace SE , Amemiya A , Sacharow SJ , Picker JD , Levy HL

Published On :1993

Review

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

Authors :Weiner DJ , Wigdor EM , Ripke S , Walters RK , Kosmicki JA , Grove J , Samocha KE , Goldstein JI , Okbay A , Bybjerg-Grauholm J , Werge T , Hougaard DM , Taylor J , iPSYCH-Broad Autism Group , Psychiatric Genomics Consortium Autism Group , Skuse D , Devlin B , Anney R , Sanders SJ , Bishop S , Mortensen PB , Børglum AD , Smith GD , Daly MJ , Robinson EB

Published On :2017 Jul

Journal Article

Correction: Addressing the ethical issues raised by synthetic human entities with embryo-like features.

Authors :Aach J , Lunshof J , Iyer E , Church GM

Published On :2017 Apr 13

Journal Article Published Erratum

Addressing the ethical issues raised by synthetic human entities with embryo-like features.

Authors :Aach J , Lunshof J , Iyer E , Church GM

Published On :2017 Mar 21

Journal Article

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.

Authors :Duncan L , Yilmaz Z , Gaspar H , Walters R , Goldstein J , Anttila V , Bulik-Sullivan B , Ripke S , Eating Disorders Working Group of the Psychiatric Genomics Consortium , Thornton L , Hinney A , Daly M , Sullivan PF , Zeggini E , Breen G , Bulik CM

Published On :2017 Sep 1

Journal Article Meta-Analysis

Magnetic Cationic Amylose Nanoparticles Used to Deliver Survivin-Small Interfering RNA for Gene Therapy of Hepatocellular Carcinoma In Vitro.

Authors :Wu Z , Xu XL , Zhang JZ , Mao XH , Xie MW , Cheng ZL , Lu LJ , Duan XH , Zhang LM , Shen J

Published On :2017 May 11

Journal Article

Superparamagnetic Iron Oxide Nanoparticles-Complexed Cationic Amylose for In Vivo Magnetic Resonance Imaging Tracking of Transplanted Stem Cells in Stroke.

Authors :Lin BL , Zhang JZ , Lu LJ , Mao JJ , Cao MH , Mao XH , Zhang F , Duan XH , Zheng CS , Zhang LM , Shen J

Published On :2017 May 10

Journal Article

Bio-inspired solute enables preservation of human oocytes using minimum volume vitrification.

Authors :Choi JK , El Assal R , Ng N , Ginsburg E , Maas RL , Anchan RM , Demirci U

Published On :2018 Jan

Journal Article

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Authors :Boycott KM , Rath A , Chong JX , Hartley T , Alkuraya FS , Baynam G , Brookes AJ , Brudno M , Carracedo A , den Dunnen JT , Dyke SOM , Estivill X , Goldblatt J , Gonthier C , Groft SC , Gut I , Hamosh A , Hieter P , Höhn S , Hurles ME , Kaufmann P , Knoppers BM , Krischer JP , Macek M Jr , Matthijs G , Olry A , Parker S , Paschall J , Philippakis AA , Rehm HL , Robinson PN , Sham PC , Stefanov R , Taruscio D , Unni D , Vanstone MR , Zhang F , Brunner H , Bamshad MJ , Lochmüller H

Published On :2017 May 4

Journal Article

Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome.

Authors :Munshi K , Pawlowski K , Gonzalez-Heydrich J , Picker JD

Published On :2017 Dec

Journal Article Review

Resolving stem and progenitor cells in the adult mouse incisor through gene co-expression analysis.

Authors :Seidel K , Marangoni P , Tang C , Houshmand B , Du W , Maas RL , Murray S , Oldham MC , Klein OD

Published On :2017 May 5

Journal Article

Negative selection in humans and fruit flies involves synergistic epistasis.

Authors :Sohail M , Vakhrusheva OA , Sul JH , Pulit SL , Francioli LC , Genome of the Netherlands Consortium , Alzheimer’s Disease Neuroimaging Initiative , van den Berg LH , Veldink JH , de Bakker PIW , Bazykin GA , Kondrashov AS , Sunyaev SR

Published On :2017 May 5

Journal Article

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Authors :Johnson MB , De Franco E , Lango Allen H , Al Senani A , Elbarbary N , Siklar Z , Berberoglu M , Imane Z , Haghighi A , Razavi Z , Ullah I , Alyaarubi S , Gardner D , Ellard S , Hattersley AT , Flanagan SE

Published On :2017 Aug

Journal Article

Relationship of Fibroblast Growth Factor 23 (FGF-23) Serum Levels With Low Bone Mass in Postmenopausal Women.

Authors :Shen J , Fu S , Song Y

Published On :2017 Dec

Clinical Trial Journal Article

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

Authors :Zou F , McWalter K , Schmidt L , Decker A , Picker JD , Lincoln S , Sweetser DA , Briere LC , Harini C , Members of the Undiagnosed Diseases Network , Marsh E , Medne L , Wang RY , Leydiker K , Mower A , Visser G , Cuppen I , van Gassen KL , van der Smagt J , Yousaf A , Tennison M , Shanmugham A , Butler E , Richard G , McKnight D

Published On :2017 Mar-Jun

Journal Article