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A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.

Authors :Shearer AE , Shen J , Amr S , Morton CC , Smith RJ , Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks
Published On :2019 Nov
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, P.H.S.


Disseminated Intravascular Coagulation Following Heart Transplant in an HIV-infected Recipient: Case Report and Review of the Literature.

Authors :Zhou X , Mandal M , Suarez-Pierre A , Krishnan A , Fraser CD 3rd , Whitman GJR , Higgins RSD , Mandal K
Published On :2019 May
Journal Article


Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.

Authors :Jaffré F , Miller CL , Schänzer A , Evans T , Roberts AE , Hahn A , Kontaridis MI
Published On :2019 Jul 16
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.


Long-Acting IL-33 Mobilizes High-Quality Hematopoietic Stem and Progenitor Cells More Efficiently Than Granulocyte Colony-Stimulating Factor or AMD3100.

Authors :Alt C , Yuan S , Wu F , Stankovich B , Calaoagan J , Schopies S , Wu JY , Shen J , Schneider D , Zhu Y , Zhao XY , Lippow SM , Bauzon M
Published On :2019 Aug
Comparative Study Journal Article Research Support, Non-U.S. Gov't


Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Authors :Shen J , Oza AM , Del Castillo I , Duzkale H , Matsunaga T , Pandya A , Kang HP , Mar-Heyming R , Guha S , Moyer K , Lo C , Kenna M , Alexander JJ , Zhang Y , Hirsch Y , Luo M , Cao Y , Wai Choy K , Cheng YF , Avraham KB , Hu X , Garrido G , Moreno-Pelayo MA , Greinwald J , Zhang K , Zeng Y , Brownstein Z , Basel-Salmon L , Davidov B , Frydman M , Weiden T , Nagan N , Willis A , Hemphill SE , Grant AR , Siegert RK , DiStefano MT , Amr SS , Rehm HL , Abou Tayoun AN , ClinGen Hearing Loss Working Group
Published On :2019 Nov
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Consensus Statement


Terminator-free template-independent enzymatic DNA synthesis for digital information storage.

Authors :Lee HH , Kalhor R , Goela N , Bolot J , Church GM
Published On :2019 Jun 3
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland.

Authors :Kerminen S , Martin AR , Koskela J , Ruotsalainen SE , Havulinna AS , Surakka I , Palotie A , Perola M , Salomaa V , Daly MJ , Ripatti S , Pirinen M
Published On :2019 Jun 6
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Characterization of macrophage polarization in periodontal disease.

Authors :Garaicoa-Pazmino C , Fretwurst T , Squarize CH , Berglundh T , Giannobile WV , Larsson L , Castilho RM
Published On :2019 Aug
Journal Article Research Support, Non-U.S. Gov't


Evaluation of Neuropathic Pain in a Rat Model of Total Brachial Plexus Avulsion from Behavior to Brain Metabolism.

Authors :Shen J , Huo BB , Zheng MX , Hua XY , Shen H , Lu YC , Jiang DL , Shan CL , Xu JG
Published On :2019 May
Journal Article Research Support, Non-U.S. Gov't


Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Authors :Rivas MA , Avila BE , Koskela J , Huang H , Stevens C , Pirinen M , Haritunians T , Neale BM , Kurki M , Ganna A , Graham D , Glaser B , Peter I , Atzmon G , Barzilai N , Levine AP , Schiff E , Pontikos N , Weisburd B , Lek M , Karczewski KJ , Bloom J , Minikel EV , Petersen BS , Beaugerie L , Seksik P , Cosnes J , Schreiber S , Bokemeyer B , Bethge J , International IBD Genetics Consortium , NIDDK IBD Genetics Consortium , T2D-GENES Consortium , Heap G , Ahmad T , Plagnol V , Segal AW , Targan S , Turner D , Saavalainen P , Farkkila M , Kontula K , Palotie A , Brant SR , Duerr RH , Silverberg MS , Rioux JD , Weersma RK , Franke A , Jostins L , Anderson CA , Barrett JC , MacArthur DG , Jalas C , Sokol H , Xavier RJ , Pulver A , Cho JH , McGovern DPB , Daly MJ
Published On :2019 May
Published Erratum


Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

Authors :Capri Y , Flex E , Krumbach OHF , Carpentieri G , Cecchetti S , Lißewski C , Rezaei Adariani S , Schanze D , Brinkmann J , Piard J , Pantaleoni F , Lepri FR , Goh ES , Chong K , Stieglitz E , Meyer J , Kuechler A , Bramswig NC , Sacharow S , Strullu M , Vial Y , Vignal C , Kensah G , Cuturilo G , Kazemein Jasemi NS , Dvorsky R , Monaghan KG , Vincent LM , Cavé H , Verloes A , Ahmadian MR , Tartaglia M , Zenker M
Published On :2019 Jun 6
Journal Article Research Support, Non-U.S. Gov't


Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Authors :DiStefano MT , Hemphill SE , Oza AM , Siegert RK , Grant AR , Hughes MY , Cushman BJ , Azaiez H , Booth KT , Chapin A , Duzkale H , Matsunaga T , Shen J , Zhang W , Kenna M , Schimmenti LA , Tekin M , Rehm HL , Tayoun ANA , Amr SS , ClinGen Hearing Loss Clinical Domain Working Group
Published On :2019 Oct
Published Erratum


Contralateral hemi-fifth-lumbar nerve transfer for unilateral lower limb dysfunction due to incomplete traumatic spinal cord injury: A report of two cases.

Authors :Yu BF , Qiu YQ , Du MX , Yin HW , Shen J , Ye X , Cai ZY , Xu WD
Published On :2020 Feb
Case Reports Journal Article


Circumventing cellular immunity by miR142-mediated regulation sufficiently supports rAAV-delivered OVA expression without activating humoral immunity.

Authors :Xiao Y , Muhuri M , Li S , Qin W , Xu G , Luo L , Li J , Letizia AJ , Wang SK , Chan YK , Wang C , Fuchs SP , Wang D , Su Q , Nahid MA , Church GM , Farzan M , Yang L , Wei Y , Desrosiers RC , Mueller C , Tai PW , Gao G
Published On :2019 May 21
Journal Article Research Support, N.I.H., Extramural


Genotype-phenotype associations among panel-based TP53+ subjects.

Authors :Rana HQ , Clifford J , Hoang L , LaDuca H , Black MH , Li S , McGoldrick K , Speare V , Dolinsky JS , Gau CL , Garber JE
Published On :2019 Nov
Journal Article