Publications | International Center for Genetic Disease at Harvard Medical School

A Clinician's perspective on clinical exome sequencing.

Authors :O'Donnell-Luria AH , Miller DT

Published On :2016 Jun

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

Current and future alternative therapies for beta-thalassemia major.

Authors :de Dreuzy E , Bhukhai K , Leboulch P , Payen E

Published On :2016 Feb

Journal Article Review

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.

Authors :Walker MA , Mohler KP , Hopkins KW , Oakley DH , Sweetser DA , Ibba M , Frosch MP , Thibert RL

Published On :2016 Aug

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

Scaling Pattern to Variations in Size during Development of the Vertebrate Neural Tube.

Authors :Uygur A , Young J , Huycke TR , Koska M , Briscoe J , Tabin CJ

Published On :2016 Apr 18

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

Real-time single-molecule electronic DNA sequencing by synthesis using polymer-tagged nucleotides on a nanopore array.

Authors :Fuller CW , Kumar S , Porel M , Chien M , Bibillo A , Stranges PB , Dorwart M , Tao C , Li Z , Guo W , Shi S , Korenblum D , Trans A , Aguirre A , Liu E , Harada ET , Pollard J , Bhat A , Cech C , Yang A , Arnold C , Palla M , Hovis J , Chen R , Morozova I , Kalachikov S , Russo JJ , Kasianowicz JJ , Davis R , Roever S , Church GM , Ju J

Published On :2016 May 10

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

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

Authors :Poulsen JB , Lescai F , Grove J , Bækvad-Hansen M , Christiansen M , Hagen CM , Maller J , Stevens C , Li S , Li Q , Sun J , Wang J , Nordentoft M , Werge TM , Mortensen PB , Børglum AD , Daly M , Hougaard DM , Bybjerg-Grauholm J , Hollegaard MV

Published On :2016

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

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies.

Authors :Bodea CA , Neale BM , Ripke S , International IBD Genetics Consortium , Daly MJ , Devlin B , Roeder K

Published On :2016 May 5

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

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Authors :Fregeau B , Kim BJ , Hernández-García A , Jordan VK , Cho MT , Schnur RE , Monaghan KG , Juusola J , Rosenfeld JA , Bhoj E , Zackai EH , Sacharow S , Barañano K , Bosch DGM , de Vries BBA , Lindstrom K , Schroeder A , James P , Kulch P , Lalani SR , van Haelst MM , van Gassen KLI , van Binsbergen E , Barkovich AJ , Scott DA , Sherr EH

Published On :2016 May 5

Case Reports Journal Article

Institutional Cost Comparison Between Heart Transplants and Left Ventricular Assist Device Implantations.

Authors :Chimanji N , Kilic A , Hasan A , Higgins RS , Whitson BA , Kilic A

Published On :2016 Dec

Journal Article

Reduction of the n-6:n-3 long-chain PUFA ratio during pregnancy and lactation on offspring body composition: follow-up results from a randomized controlled trial up to 5 y of age.

Authors :Brei C , Stecher L , Much D , Karla MT , Amann-Gassner U , Shen J , Ganter C , Karampinos DC , Brunner S , Hauner H

Published On :2016 Jun

Journal Article Randomized Controlled Trial

Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree.

Authors :Wang T , Xu CC , Zhou XP , Lee JJ , Shen J , Lian BQ , Liu YH , Lian CG

Published On :2015 Mar

Case Reports Journal Article

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Authors :Okur V , Cho MT , Henderson L , Retterer K , Schneider M , Sattler S , Niyazov D , Azage M , Smith S , Picker J , Lincoln S , Tarnopolsky M , Brady L , Bjornsson HT , Applegate C , Dameron A , Willaert R , Baskin B , Juusola J , Chung WK

Published On :2016 Jul

Journal Article

Performance of optimized noncanonical amino acid mutagenesis systems in the absence of release factor 1.

Authors :Zheng Y , Lajoie MJ , Italia JS , Chin MA , Church GM , Chatterjee A

Published On :2016 May 24

Journal Article

Gap Junctions Contribute to the Regulation of Walking-Like Activity in the Adult Mudpuppy (Necturus Maculatus).

Authors :Lavrov I , Fox L , Shen J , Han Y , Cheng J

Published On :2016

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

Percutaneous umbilical blood sampling: current trends and outcomes.

Authors :Bigelow CA , Cinelli CM , Little SE , Benson CB , Frates MC , Wilkins-Haug LE

Published On :2016 May

Journal Article