Publications | International Center for Genetic Disease at Harvard Medical School

Androgen-sensitive hypertension associated with soluble guanylate cyclase-α1 deficiency is mediated by 20-HETE.

Authors :Dordea AC , Vandenwijngaert S , Garcia V , Tainsh RE , Nathan DI , Allen K , Raher MJ , Tainsh LT , Zhang F , Lieb WS , Mikelman S , Kirby A , Stevens C , Thoonen R , Hindle AG , Sips PY , Falck JR , Daly MJ , Brouckaert P , Bloch KD , Bloch DB , Malhotra R , Schwartzman ML , Buys ES

Published On :2016 Jun 1

Journal Article

Selective solid-phase extraction of catecholamines from plasma using nanofibers doped with crown ether and their quantitation by HPLC with electrochemical detection.

Authors :Chen L , Zhu X , Shen J , Zhang W

Published On :2016 Jul

Journal Article

Current and future prospects for hemophilia gene therapy.

Authors :Ward P , Walsh CE

Published On :2016 Jul

Journal Article Review

[Application of High-throughput Sequencing in Acute Myeloid Leukemia Patients with Positive FLT3-ITD].

Authors :Ma L , Jiang YW , Wang ST , Liu Q , Cong X , Shen J , Cao YY , Cao YT

Published On :2016 Apr

Journal Article

Characterization of Cas9-Guide RNA Orthologs.

Authors :Braff JL , Yaung SJ , Esvelt KM , Church GM

Published On :2016 May 2

Journal Article

Characterizing Cas9 Protospacer-Adjacent Motifs with High-Throughput Sequencing of Library Depletion Experiments.

Authors :Braff JL , Yaung SJ , Esvelt KM , Church GM

Published On :2016 May 2

Journal Article

N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.

Authors :Rodan LH , Berry GT

Published On :2017

Journal Article

A Clinician's perspective on clinical exome sequencing.

Authors :O'Donnell-Luria AH , Miller DT

Published On :2016 Jun

Journal Article Review

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

Journal Article

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

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

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

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

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

Journal Article