Publications | International Center for Genetic Disease at Harvard Medical School

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

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.

Authors :Seaby EG , Rehm HL , O'Donnell-Luria A

Published On :2021

Journal Article Review

Synthetic auxotrophy remains stable after continuous evolution and in coculture with mammalian cells.

Authors :Kunjapur AM , Napolitano MG , Hysolli E , Noguera K , Appleton EM , Schubert MG , Jones MA , Iyer S , Mandell DJ , Church GM

Published On :2021 Jul

Journal Article

Efficient continuous-wave eye-safe Nd:YVO(4) self-Raman laser at 1.5 µm.

Authors :Fan L , Shen J , Wang XY , Fan HB , Zhu J , Wang XL , Wang HT

Published On :2021 Jul 1

Journal Article

Application of single cell genomics to focal epilepsies: A call to action.

Authors :Khoshkhoo S , Lal D , Walsh CA

Published On :2021 Jul

Journal Article Review

A Novel Radiomics Nomogram for the Prediction of Secondary Loss of Response to Infliximab in Crohn's Disease.

Authors :Chen Y , Li H , Feng J , Suo S , Feng Q , Shen J

Published On :2021

Journal Article

Sevoflurane inhibits neuroblastoma cell proliferation and invasion and induces apoptosis by miR-144-3p/YAP1 axis.

Authors :Yang L , He K , Yao S , Zhang Y , Shen J

Published On :2021 Oct

Journal Article

Deep representation learning improves prediction of LacI-mediated transcriptional repression.

Authors :Garruss AS , Collins KM , Church GM

Published On :2021 Jul 6

Journal Article

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Authors :Duncan AR , Polovitskaya MM , Gaitán-Peñas H , Bertelli S , VanNoy GE , Grant PE , O'Donnell-Luria A , Valivullah Z , Lovgren AK , England EM , Agolini E , Madden JA , Schmitz-Abe K , Kritzer A , Hawley P , Novelli A , Alfieri P , Colafati GS , Wieczorek D , Platzer K , Luppe J , Koch-Hogrebe M , Abou Jamra R , Neira-Fresneda J , Lehman A , Boerkoel CF , Seath K , Clarke L , CAUSES Study , van Ierland Y , Argilli E , Sherr EH , Maiorana A , Diel T , Hempel M , Bierhals T , Estévez R , Jentsch TJ , Pusch M , Agrawal PB

Published On :2021 Aug 5

Journal Article

Gene editing in a Myo6 semi-dominant mouse model rescues auditory function.

Authors :Xue Y , Hu X , Wang D , Li D , Li Y , Wang F , Huang M , Gu X , Xu Z , Zhou J , Wang J , Chai R , Shen J , Chen ZY , Li GL , Yang H , Li H , Zuo E , Shu Y

Published On :2022 Jan 5

Journal Article

The origin of human mutation in light of genomic data.

Authors :Seplyarskiy VB , Sunyaev S

Published On :2021 Oct

Journal Article Review

Early role for a Na(+),K(+)-ATPase (ATP1A3) in brain development.

Authors :Smith RS , Florio M , Akula SK , Neil JE , Wang Y , Hill RS , Goldman M , Mullally CD , Reed N , Bello-Espinosa L , Flores-Sarnat L , Monteiro FP , Erasmo CB , Pinto E Vairo F , Morava E , Barkovich AJ , Gonzalez-Heydrich J , Brownstein CA , McCarroll SA , Walsh CA

Published On :2021 Jun 22

Journal Article