Publications | International Center for Genetic Disease at Harvard Medical School

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Authors :Manzini MC , Xiong L , Shaheen R , Tambunan DE , Di Costanzo S , Mitisalis V , Tischfield DJ , Cinquino A , Ghaziuddin M , Christian M , Jiang Q , Laurent S , Nanjiani ZA , Rasheed S , Hill RS , Lizarraga SB , Gleason D , Sabbagh D , Salih MA , Alkuraya FS , Walsh CA

Published On :2014 Aug 7

Journal Article

A novel missense mutation in oncostatin M receptor beta causing primary localized cutaneous amyloidosis.

Authors :Saeedi M , Ebrahim-Habibi A , Haghighi A , Zarrabi F , Amoli MM , Robati RM

Published On :2014

Journal Article

Fetal aortic valvuloplasty for evolving hypoplastic left heart syndrome: postnatal outcomes of the first 100 patients.

Authors :Freud LR , McElhinney DB , Marshall AC , Marx GR , Friedman KG , del Nido PJ , Emani SM , Lafranchi T , Silva V , Wilkins-Haug LE , Benson CB , Lock JE , Tworetzky W

Published On :2014 Aug 19

Clinical Trial Journal Article

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Authors :Chen PC , Yin J , Yu HW , Yuan T , Fernandez M , Yung CK , Trinh QM , Peltekova VD , Reid JG , Tworog-Dube E , Morgan MB , Muzny DM , Stein L , McPherson JD , Roberts AE , Gibbs RA , Neel BG , Kucherlapati R

Published On :2014 Aug 5

Journal Article

Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.

Authors :Robertson NG , O'Malley JT , Ong CA , Giersch AB , Shen J , Stankovic KM , Morton CC

Published On :2014 Dec

Journal Article

Concerning RNA-guided gene drives for the alteration of wild populations.

Authors :Esvelt KM , Smidler AL , Catteruccia F , Church GM

Published On :2014 Jul 17

Journal Article Review

Biotechnology. Regulating gene drives.

Authors :Oye KA , Esvelt K , Appleton E , Catteruccia F , Church G , Kuiken T , Lightfoot SB , McNamara J , Smidler A , Collins JP

Published On :2014 Aug 8

Journal Article

(Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies.

Authors :Hutchinson JN , Fagerness J , Kirby A , Reynolds R , Zak A , Gimelbrant A , Plenge R , Daly M , Chess A , Seddon JM

Published On :2014

Journal Article

Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center.

Authors :Walker MA , Slate N , Alejos A , Volpi S , Iyengar RS , Sweetser D , Sims KB , Walter JE

Published On :2014 Jul-Aug

Letter

EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome.

Authors :Heard TT , Ramgopal S , Picker J , Lincoln SA , Rotenberg A , Kothare SV

Published On :2014 Nov

Journal Article

Synthesis and application of immobilized polysaccharide-based chiral stationary phases for enantioseparation by high-performance liquid chromatography.

Authors :Shen J , Ikai T , Okamoto Y

Published On :2014 Oct 10

Journal Article Review

Patterning and post-patterning modes of evolutionary digit loss in mammals.

Authors :Cooper KL , Sears KE , Uygur A , Maier J , Baczkowski KS , Brosnahan M , Antczak D , Skidmore JA , Tabin CJ

Published On :2014 Jul 3

Journal Article

Genome editing assessment using CRISPR Genome Analyzer (CRISPR-GA).

Authors :Güell M , Yang L , Church GM

Published On :2014 Oct 15

Journal Article

CRISPR/Cas9-Directed Genome Editing of Cultured Cells.

Authors :Yang L , Yang JL , Byrne S , Pan J , Church GM

Published On :2014 Jul 1

Journal Article Review

Identification of ENO1 as a potential sputum biomarker for early-stage lung cancer by shotgun proteomics.

Authors :Yu L , Shen J , Mannoor K , Guarnera M , Jiang F

Published On :2014 Sep

Journal Article

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