Publications | International Center for Genetic Disease at Harvard Medical School

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Authors :Consugar MB , Navarro-Gomez D , Place EM , Bujakowska KM , Sousa ME , Fonseca-Kelly ZD , Taub DG , Janessian M , Wang DY , Au ED , Sims KB , Sweetser DA , Fulton AB , Liu Q , Wiggs JL , Gai X , Pierce EA

Published On :2015 Apr

Journal Article

Somatic mutations in cerebral cortical malformations.

Authors :Jamuar SS , Walsh CA

Published On :2014 Nov 20

Letter Comment

Rapid neurogenesis through transcriptional activation in human stem cells.

Authors :Busskamp V , Lewis NE , Guye P , Ng AH , Shipman SL , Byrne SM , Sanjana NE , Murn J , Li Y , Li S , Stadler M , Weiss R , Church GM

Published On :2014 Nov 17

Journal Article

Eu(III) and Tb(III) complexes with the nonsteroidal anti-inflammatory drug carprofen: synthesis, crystal structure, and photophysical properties.

Authors :Zhou X , Zhao X , Wang Y , Wu B , Shen J , Li L , Li Q

Published On :2014 Dec 1

Journal Article

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Authors :Muona M , Berkovic SF , Dibbens LM , Oliver KL , Maljevic S , Bayly MA , Joensuu T , Canafoglia L , Franceschetti S , Michelucci R , Markkinen S , Heron SE , Hildebrand MS , Andermann E , Andermann F , Gambardella A , Tinuper P , Licchetta L , Scheffer IE , Criscuolo C , Filla A , Ferlazzo E , Ahmad J , Ahmad A , Baykan B , Said E , Topcu M , Riguzzi P , King MD , Ozkara C , Andrade DM , Engelsen BA , Crespel A , Lindenau M , Lohmann E , Saletti V , Massano J , Privitera M , Espay AJ , Kauffmann B , Duchowny M , Møller RS , Straussberg R , Afawi Z , Ben-Zeev B , Samocha KE , Daly MJ , Petrou S , Lerche H , Palotie A , Lehesjoki AE

Published On :2015 Jan

Journal Article

Helicobacter pylori regulates TLR4 and TLR9 during gastric carcinogenesis.

Authors :Wang TR , Peng JC , Qiao YQ , Zhu MM , Zhao D , Shen J , Ran ZH

Published On :2014

Journal Article

Genome editing in human stem cells.

Authors :Byrne SM , Mali P , Church GM

Published On :2014

Journal Article

Cell population kinetics of collagen scaffolds in ex vivo oral wound repair.

Authors :Agis H , Collins A , Taut AD , Jin Q , Kruger L , Görlach C , Giannobile WV

Published On :2014

Journal Article

Serological investigation of food specific immunoglobulin G antibodies in patients with inflammatory bowel diseases.

Authors :Cai C , Shen J , Zhao D , Qiao Y , Xu A , Jin S , Ran Z , Zheng Q

Published On :2014

Journal Article

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Authors :Haghighi A , Tiwari A , Piri N , Nürnberg G , Saleh-Gohari N , Haghighi A , Neidhardt J , Nürnberg P , Berger W

Published On :2014

Journal Article

A relative shift in cloacal location repositions external genitalia in amniote evolution.

Authors :Tschopp P , Sherratt E , Sanger TJ , Groner AC , Aspiras AC , Hu JK , Pourquié O , Gros J , Tabin CJ

Published On :2014 Dec 18

Journal Article

Prevalence of thyroid dysfunction with adequate and excessive iodine intake in Hebei Province, People's Republic of China.

Authors :Tan L , Sang Z , Shen J , Liu H , Chen W , Zhao N , Wei W , Zhang G , Zhang W

Published On :2015 Jun

Journal Article

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings.

Authors :Pierpont EI , Tworog-Dube E , Roberts AE

Published On :2015 Apr

Journal Article

Genetic and epigenetic fine mapping of causal autoimmune disease variants.

Authors :Farh KK , Marson A , Zhu J , Kleinewietfeld M , Housley WJ , Beik S , Shoresh N , Whitton H , Ryan RJ , Shishkin AA , Hatan M , Carrasco-Alfonso MJ , Mayer D , Luckey CJ , Patsopoulos NA , De Jager PL , Kuchroo VK , Epstein CB , Daly MJ , Hafler DA , Bernstein BE

Published On :2015 Feb 19

Journal Article

Synaptic, transcriptional and chromatin genes disrupted in autism.

Authors :De Rubeis S , He X , Goldberg AP , Poultney CS , Samocha K , Cicek AE , Kou Y , Liu L , Fromer M , Walker S , Singh T , Klei L , Kosmicki J , Shih-Chen F , Aleksic B , Biscaldi M , Bolton PF , Brownfeld JM , Cai J , Campbell NG , Carracedo A , Chahrour MH , Chiocchetti AG , Coon H , Crawford EL , Curran SR , Dawson G , Duketis E , Fernandez BA , Gallagher L , Geller E , Guter SJ , Hill RS , Ionita-Laza J , Jimenz Gonzalez P , Kilpinen H , Klauck SM , Kolevzon A , Lee I , Lei I , Lei J , Lehtimäki T , Lin CF , Ma'ayan A , Marshall CR , McInnes AL , Neale B , Owen MJ , Ozaki N , Parellada M , Parr JR , Purcell S , Puura K , Rajagopalan D , Rehnström K , Reichenberg A , Sabo A , Sachse M , Sanders SJ , Schafer C , Schulte-Rüther M , Skuse D , Stevens C , Szatmari P , Tammimies K , Valladares O , Voran A , Li-San W , Weiss LA , Willsey AJ , Yu TW , Yuen RK , DDD Study , Homozygosity Mapping Collaborative for Autism , UK10K Consortium , Cook EH , Freitag CM , Gill M , Hultman CM , Lehner T , Palotie A , Schellenberg GD , Sklar P , State MW , Sutcliffe JS , Walsh CA , Scherer SW , Zwick ME , Barett JC , Cutler DJ , Roeder K , Devlin B , Daly MJ , Buxbaum JD

Published On :2014 Nov 13

Journal Article