Publications | International Center for Genetic Disease at Harvard Medical School

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Authors :Hildebrandt J , Yalcin E , Bresser HG , Cinel G , Gappa M , Haghighi A , Kiper N , Khalilzadeh S , Reiter K , Sayer J , Schwerk N , Sibbersen A , Van Daele S , Nübling G , Lohse P , Griese M

Published On :2014 Nov 26

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

Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.

Authors :Hoehe MR , Church GM , Lehrach H , Kroslak T , Palczewski S , Nowick K , Schulz S , Suk EK , Huebsch T

Published On :2014 Nov 26

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

Different therapeutic approaches on quality of life in patients with inflammatory bowel disease.

Authors :Xu J , Lin H , Feng X , Tang M , Shen J , Ran Z

Published On :2014 Nov 25

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

Epigenetics and its role in periodontal diseases: a state-of-the-art review.

Authors :Larsson L , Castilho RM , Giannobile WV

Published On :2015 Apr

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

Multi-kilobase homozygous targeted gene replacement in human induced pluripotent stem cells.

Authors :Byrne SM , Ortiz L , Mali P , Aach J , Church GM

Published On :2015 Feb 18

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.

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

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

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

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

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