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


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


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


The origin of human mutation in light of genomic data.

Authors :Seplyarskiy VB , Sunyaev S
Published On :2021 Oct
Journal Article Research Support, N.I.H., Extramural 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
Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Is Externally Corrected Coupled Cluster Always Better Than the Underlying Truncated Configuration Interaction?

Authors :Magoulas I , Gururangan K , Piecuch P , Deustua JE , Shen J
Published On :2021 Jul 13
Journal Article


Borate-driven ionic rectifiers based on sugar-bearing single nanochannels.

Authors :Cayón VM , Laucirica G , Toum Terrones Y , Cortez ML , Pérez-Mitta G , Shen J , Hess C , Toimil-Molares ME , Trautmann C , Marmisollé WA , Azzaroni O
Published On :2021 Jul 7
Journal Article


Pelvic Pain Alters Functional Connectivity Between Anterior Cingulate Cortex and Hippocampus in Both Humans and a Rat Model.

Authors :Yu W , Wu X , Chen Y , Liang Z , Jiang J , Misrani A , Su Y , Peng Y , Chen J , Tang B , Sun M , Long C , Shen J , Yang L
Published On :2021
Journal Article


Establishment and Characterization of a HER2-Positive Cell Line Derived From the Pleural Effusion of a Drug-Resistant Breast Cancer Patient.

Authors :Li Z , Zhuo W , Chen L , Zhang X , Chen C , Hu D , Chen Y , Yang J , Zhou Y , Mao M , Xu L , Ju S , Shen J , Wang Q , Dong M , Xie S , Zhou J , Wang L
Published On :2021
Journal Article