Publications | International Center for Genetic Disease at Harvard Medical School

Learning and memory in children with Noonan syndrome.

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

Published On :2013 Sep

Journal Article

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.

Authors :Stoll G , Pietiläinen OPH , Linder B , Suvisaari J , Brosi C , Hennah W , Leppä V , Torniainen M , Ripatti S , Ala-Mello S , Plöttner O , Rehnström K , Tuulio-Henriksson A , Varilo T , Tallila J , Kristiansson K , Isohanni M , Kaprio J , Eriksson JG , Raitakari OT , Lehtimäki T , Jarvelin MR , Salomaa V , Hurles M , Stefansson H , Peltonen L , Sullivan PF , Paunio T , Lönnqvist J , Daly MJ , Fischer U , Freimer NB , Palotie A

Published On :2013 Sep

Journal Article

Optimization of scarless human stem cell genome editing.

Authors :Yang L , Guell M , Byrne S , Yang JL , De Los Angeles A , Mali P , Aach J , Kim-Kiselak C , Briggs AW , Rios X , Huang PY , Daley G , Church G

Published On :2013 Oct

Journal Article

CAS9 transcriptional activators for target specificity screening and paired nickases for cooperative genome engineering.

Authors :Mali P , Aach J , Stranges PB , Esvelt KM , Moosburner M , Kosuri S , Yang L , Church GM

Published On :2013 Sep

Journal Article

[Assessment of the capability of the fluid model of automatic blood cell analyzer in white blood cell count and classification].

Authors :Shen J , Chen Y , Wang GZ , Ma L , Han CW

Published On :2013 Jul

Journal Article

Personalized medicine enters dentistry: what might this mean for clinical practice?

Authors :Giannobile WV , Kornman KS , Williams RC

Published On :2013 Aug

Editorial

A pilot randomised controlled trial of a preconsultation web-based intervention to improve the care quality and clinical outcomes of diabetes outpatients (DIAT).

Authors :Frost J , Anderson R , Argyle C , Daly M , Harris-Golesworthy F , Harris J , Gibson A , Ingram W , Pinkney J , Ukoumunne OC , Vaidya B , Vickery J , Britten N

Published On :2013 Jul 31

Journal Article

Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.

Authors :Kasippillai T , MacArthur DG , Kirby A , Thomas B , Lambalk CB , Daly MJ , Welt CK

Published On :2013 Sep

Journal Article

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.

Authors :Manoli I , Sysol JR , Li L , Houillier P , Garone C , Wang C , Zerfas PM , Cusmano-Ozog K , Young S , Trivedi NS , Cheng J , Sloan JL , Chandler RJ , Abu-Asab M , Tsokos M , Elkahloun AG , Rosen S , Enns GM , Berry GT , Hoffmann V , DiMauro S , Schnermann J , Venditti CP

Published On :2013 Aug 13

Clinical Trial Journal Article

An iterative, bimodular nonribosomal peptide synthetase that converts anthranilate and tryptophan into tetracyclic asperlicins.

Authors :Gao X , Jiang W , Jiménez-Osés G , Choi MS , Houk KN , Tang Y , Walsh CT

Published On :2013 Jul 25

Journal Article

Optical control of mammalian endogenous transcription and epigenetic states.

Authors :Konermann S , Brigham MD , Trevino A , Hsu PD , Heidenreich M , Cong L , Platt RJ , Scott DA , Church GM , Zhang F

Published On :2013 Aug 22

Journal Article

Statistical analysis of molecular signal recording.

Authors :Glaser JI , Zamft BM , Marblestone AH , Moffitt JR , Tyo K , Boyden ES , Church G , Kording KP

Published On :2013

Journal Article

Fertility preservation in female classic galactosemia patients.

Authors :van Erven B , Gubbels CS , van Golde RJ , Dunselman GA , Derhaag JG , de Wert G , Geraedts JP , Bosch AM , Treacy EP , Welt CK , Berry GT , Rubio-Gozalbo ME

Published On :2013 Jul 16

Journal Article Review

Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report.

Authors :Kinney HC , McDonald AG , Minter ME , Berry GT , Poduri A , Goldstein RD

Published On :2013 Sep

Journal Article

Optical Constants of Crystallized TiO₂ Coatings Prepared by Sol-Gel Process.

Authors :Wang X , Wu G , Zhou B , Shen J

Published On :2013 Jul 12

Journal Article