Publications | International Center for Genetic Disease at Harvard Medical School

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Authors :Velmans C , O'Donnell-Luria AH , Argilli E , Tran Mau-Them F , Vitobello A , Chan MC , Fung JL , Rech M , Abicht A , Aubert Mucca M , Carmichael J , Chassaing N , Clark R , Coubes C , Denommé-Pichon AS , de Dios JK , England E , Funalot B , Gerard M , Joseph M , Kennedy C , Kumps C , Willems M , van de Laar IMBH , Aarts-Tesselaar C , van Slegtenhorst M , Lehalle D , Leppig K , Lessmeier L , Pais LS , Paterson H , Ramanathan S , Rodan LH , Superti-Furga A , Chung BHY , Sherr E , Netzer C , Schaaf CP , Erger F

Published On :2022 Jul

Journal Article

Association Between NEDD4L Variation and the Genetic Risk of Acute Appendicitis: A Multi-institutional Genome-Wide Association Study.

Authors :Gaitanidis A , Kaafarani HMA , Christensen MA , Breen K , Mendoza A , Fagenholz PJ , Velmahos GC , Farhat MR

Published On :2021 Oct 1

Journal Article Multicenter Study

Artificial Intelligence Enhances Studies on Inflammatory Bowel Disease.

Authors :Chen G , Shen J

Published On :2021

Journal Article Review

Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.

Authors :Puurunen MK , Vockley J , Searle SL , Sacharow SJ , Phillips JA 3rd , Denney WS , Goodlett BD , Wagner DA , Blankstein L , Castillo MJ , Charbonneau MR , Isabella VM , Sethuraman VV , Riese RJ , Kurtz CB , Brennan AM

Published On :2021 Aug

Journal Article Multicenter Study Randomized Controlled Trial

Publisher Correction: Voices of biotech leaders.

Authors :Bosley K , Casebourn C , Chan P , Chen J , Chen M , Church G , Cumbers J , de Wouters T , Dewey-Hagborg H , Duportet X , Ene-Obong A , Elizondo A , Farrar J , Gates B , Gatto F , Giwa S , Godec J , Gold S , LeProust E , Lunshof J , Martucci E , Heath MM , Mellad J , Oudova V , Oxman N , Regev A , Richardson S , Scott CT , Sherkow J , Sibener L , Tarragó T , Terry S , Venter JC , Wang S , Wickramasekara S , Yadi H , Yang L , Zhao B

Published On :2021 Aug

Published Erratum

Growth, Structure, and Properties of a Multifunctional Crystal Pr(2)CaB(10)O(19).

Authors :Feng J , Liu Y , Cheng Y , Fan F , Shen J , Lin Z , Tu H , Zhang G

Published On :2021 Aug 2

Journal Article

Sex Differences in Coronary Artery Bypass Grafting Techniques: A Society of Thoracic Surgeons Database Analysis.

Authors :Jawitz OK , Lawton JS , Thibault D , O'Brien S , Higgins RSD , Schena S , Vemulapalli S , Thomas KL , Zwischenberger BA

Published On :2022 Jun

Journal Article

Metabolic Brain Network Analysis With (18)F-FDG PET in a Rat Model of Neuropathic Pain.

Authors :Huo BB , Zheng MX , Hua XY , Shen J , Wu JJ , Xu JG

Published On :2021

Journal Article

Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning.

Authors :Kolosov N , Daly MJ , Artomov M

Published On :2021 Oct

Journal Article

Genomic frontiers in congenital heart disease.

Authors :Morton SU , Quiat D , Seidman JG , Seidman CE

Published On :2022 Jan

Journal Article Review

High GP73 Expression Correlates with Poor Response to Neoadjuvant Chemotherapy and Survival in Gastric Cancer: A Tissue Microarray Study.

Authors :Shen JG , Shen J , Teng RY , Wang LB , Zhao WH , Wang QC

Published On :2021

Journal Article

Bilateral iris mass as the first manifestation of NK cell lymphoma: A case report.

Authors :Qian Y , Shen J , Che X , Yuan Y , Wang Z

Published On :2022 Nov

Journal Article

Etiology of Severe Pneumonia in Children in Alveolar Lavage Fluid Using a High-Throughput Gene Targeted Amplicon Sequencing Assay.

Authors :Li F , Wang Y , Zhang Y , Shi P , Cao L , Su L , Zhu Q , Wang L , Lu R , Tan W , Shen J

Published On :2021

Journal Article

Altered Posterior Cerebellar Lobule Connectivity With Perigenual Anterior Cingulate Cortex in Women With Primary Dysmenorrhea.

Authors :Wu X , Yu W , Tian X , Liang Z , Su Y , Wang Z , Li X , Yang L , Shen J

Published On :2021

Journal Article

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Authors :Patel MJ , DiStefano MT , Oza AM , Hughes MY , Wilcox EH , Hemphill SE , Cushman BJ , Grant AR , Siegert RK , Shen J , Chapin A , Boczek NJ , Schimmenti LA , Nara K , Kenna M , Azaiez H , Booth KT , Avraham KB , Kremer H , Griffith AJ , Rehm HL , Amr SS , Tayoun ANA , ClinGen Hearing Loss Clinical Domain Working Group

Published On :2021 Nov

Journal Article