Publications | International Center for Genetic Disease at Harvard Medical School

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Authors :Staropoli JF , Karaa A , Lim ET , Kirby A , Elbalalesy N , Romansky SG , Leydiker KB , Coppel SH , Barone R , Xin W , MacDonald ME , Abdenur JE , Daly MJ , Sims KB , Cotman SL

Published On :2012 Jul 13

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

N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

Authors :Liu Y , Xia B , Gleason TJ , Castañeda U , He M , Berry GT , Fridovich-Keil JL

Published On :2012 Aug

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

Iterative capped assembly: rapid and scalable synthesis of repeat-module DNA such as TAL effectors from individual monomers.

Authors :Briggs AW , Rios X , Chari R , Yang L , Zhang F , Mali P , Church GM

Published On :2012 Aug

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

Ultraviolet laser-induced damage on fused silica substrate and its sol-gel coating.

Authors :Li X , Gross M , Green K , Oreb B , Shen J

Published On :2012 Jun 15

Journal Article

Differential effects of peripheral versus central coadministration of QX-314 and capsaicin on neuropathic pain in rats.

Authors :Shen J , Fox LE , Cheng J

Published On :2012 Aug

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

Multiplexed in vivo His-tagging of enzyme pathways for in vitro single-pot multienzyme catalysis.

Authors :Wang HH , Huang PY , Xu G , Haas W , Marblestone A , Li J , Gygi SP , Forster AC , Jewett MC , Church GM

Published On :2012 Feb 17

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

Postextraction alveolar ridge preservation: biological basis and treatments.

Authors :Pagni G , Pellegrini G , Giannobile WV , Rasperini G

Published On :2012

Journal Article

Eradication of factor VIII inhibitors in patients with mild and moderate hemophilia A.

Authors :Kempton CL , Allen G , Hord J , Kruse-Jarres R , Pruthi RK , Walsh C , Young G , Soucie JM

Published On :2012 Sep

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

The brain activity map project and the challenge of functional connectomics.

Authors :Alivisatos AP , Chun M , Church GM , Greenspan RJ , Roukes ML , Yuste R

Published On :2012 Jun 21

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.

The rates of Ca2+ dissociation and cross-bridge detachment from ventricular myofibrils as reported by a fluorescent cardiac troponin C.

Authors :Little SC , Biesiadecki BJ , Kilic A , Higgins RS , Janssen PM , Davis JP

Published On :2012 Aug 10

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

A BioBrick compatible strategy for genetic modification of plants.

Authors :Boyle PM , Burrill DR , Inniss MC , Agapakis CM , Deardon A , DeWerd JG , Gedeon MA , Quinn JY , Paull ML , Raman AM , Theilmann MR , Wang L , Winn JC , Medvedik O , Schellenberg K , Haynes KA , Viel A , Brenner TJ , Church GM , Shah JV , Silver PA

Published On :2012 Jun 20

Journal Article

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

Authors :Sobrin L , Ripke S , Yu Y , Fagerness J , Bhangale TR , Tan PL , Souied EH , Buitendijk GH , Merriam JE , Richardson AJ , Raychaudhuri S , Reynolds R , Chin KA , Lee AY , Leveziel N , Zack DJ , Campochiaro P , Smith RT , Barile GR , Hogg RE , Chakravarthy U , Behrens TW , Uitterlinden AG , van Duijn CM , Vingerling JR , Brantley MA Jr , Baird PN , Klaver CC , Allikmets R , Katsanis N , Graham RR , Ioannidis JP , Daly MJ , Seddon JM

Published On :2012 Sep

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

Does the ex utero intrapartum treatment to extracorporeal membrane oxygenation procedure change outcomes for high-risk patients with congenital diaphragmatic hernia?

Authors :Stoffan AP , Wilson JM , Jennings RW , Wilkins-Haug LE , Buchmiller TL

Published On :2012 Jun

Clinical Trial Journal Article

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.

Authors :Poduri A , Chopra SS , Neilan EG , Elhosary PC , Kurian MA , Meyer E , Barry BJ , Khwaja OS , Salih MA , Stödberg T , Scheffer IE , Maher ER , Sahin M , Wu BL , Berry GT , Walsh CA , Picker J , Kothare SV

Published On :2012 Aug

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

Generation of thiocillin ring size variants by prepeptide gene replacement and in vivo processing by Bacillus cereus.

Authors :Bowers AA , Acker MG , Young TS , Walsh CT

Published On :2012 Jun 27

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