Publications | International Center for Genetic Disease at Harvard Medical School

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Authors :Welling L , Bernstein LE , Berry GT , Burlina AB , Eyskens F , Gautschi M , Grünewald S , Gubbels CS , Knerr I , Labrune P , van der Lee JH , MacDonald A , Murphy E , Portnoi PA , Õunap K , Potter NL , Rubio-Gozalbo ME , Spencer JB , Timmers I , Treacy EP , Van Calcar SC , Waisbren SE , Bosch AM , Galactosemia Network (GalNet)

Published On :2017 Mar

Journal Article

Noncoding Transcribed Ultraconserved Region (T-UCR) uc.261 Participates in Intestinal Mucosa Barrier Damage in Crohn's Disease.

Authors :Qian XX , Peng JC , Xu AT , Zhao D , Qiao YQ , Wang TR , Shen J , Ran ZH

Published On :2016 Dec

Journal Article

Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities.

Authors :Nazeen S , Palmer NP , Berger B , Kohane IS

Published On :2016 Nov 14

Journal Article Meta-Analysis

Saunders's framework for understanding limb development as a platform for investigating limb evolution.

Authors :Young JJ , Tabin CJ

Published On :2017 Sep 15

Journal Article Review

Enantioseparation Using Cellulose Tris(3,5-dimethylphenylcarbamate) as Chiral Stationary Phase for HPLC: Influence of Molecular Weight of Cellulose.

Authors :Okada Y , Yamamoto C , Kamigaito M , Gao Y , Shen J , Okamoto Y

Published On :2016 Nov 8

Journal Article

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Authors :Rodan LH , Cohen J , Fatemi A , Gillis T , Lucente D , Gusella J , Picker JD

Published On :2016 Dec

Journal Article Published Erratum

Application of Circumferential Compression Device (Binder) in Pelvic Injuries: Room for Improvement.

Authors :Vaidya R , Roth M , Zarling B , Zhang S , Walsh C , Macsuga J , Swartz J

Published On :2016 Nov

Journal Article

Evolution of Osteocrin as an activity-regulated factor in the primate brain.

Authors :Ataman B , Boulting GL , Harmin DA , Yang MG , Baker-Salisbury M , Yap EL , Malik AN , Mei K , Rubin AA , Spiegel I , Durresi E , Sharma N , Hu LS , Pletikos M , Griffith EC , Partlow JN , Stevens CR , Adli M , Chahrour M , Sestan N , Walsh CA , Berezovskii VK , Livingstone MS , Greenberg ME

Published On :2016 Nov 10

Journal Article

High-efficiency piezoelectric micro harvester for collecting low-frequency mechanical energy.

Authors :Li X , Song J , Feng S , Xie X , Li Z , Wang L , Pu Y , Soh AK , Shen J , Lu W , Liu S

Published On :2016 Dec 2

Journal Article

2D/3D perovskite hybrids as moisture-tolerant and efficient light absorbers for solar cells.

Authors :Ma C , Leng C , Ji Y , Wei X , Sun K , Tang L , Yang J , Luo W , Li C , Deng Y , Feng S , Shen J , Lu S , Du C , Shi H

Published On :2016 Nov 3

Journal Article

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.

Authors :Vijai J , Topka S , Villano D , Ravichandran V , Maxwell KN , Maria A , Thomas T , Gaddam P , Lincoln A , Kazzaz S , Wenz B , Carmi S , Schrader KA , Hart SN , Lipkin SM , Neuhausen SL , Walsh MF , Zhang L , Lejbkowicz F , Rennert H , Stadler ZK , Robson M , Weitzel JN , Domchek S , Daly MJ , Couch FJ , Nathanson KL , Norton L , Rennert G , Offit K

Published On :2016 Nov

Journal Article

Engineering and optimising deaminase fusions for genome editing.

Authors :Yang L , Briggs AW , Chew WL , Mali P , Guell M , Aach J , Goodman DB , Cox D , Kan Y , Lesha E , Soundararajan V , Zhang F , Church G

Published On :2016 Nov 2

Journal Article

Usefulness of spectral computed tomography for evaluation of intestinal activity and severity in ileocolonic Crohn's disease.

Authors :Peng JC , Feng Q , Zhu J , Shen J , Qiao YQ , Xu JR , Ran ZH

Published On :2016 Nov

Journal Article

Structural elements of an NRPS cyclization domain and its intermodule docking domain.

Authors :Dowling DP , Kung Y , Croft AK , Taghizadeh K , Kelly WL , Walsh CT , Drennan CL

Published On :2016 Nov 1

Journal Article

Design and characterization of a nanopore-coupled polymerase for single-molecule DNA sequencing by synthesis on an electrode array.

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

Published On :2016 Nov 1

Journal Article