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Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.

Authors :Somineni HK , Nagpal S , Venkateswaran S , Cutler DJ , Okou DT , Haritunians T , Simpson CL , Begum F , Datta LW , Quiros AJ , Seminerio J , Mengesha E , Alexander JS , Baldassano RN , Dudley-Brown S , Cross RK , Dassopoulos T , Denson LA , Dhere TA , Iskandar H , Dryden GW , Hou JK , Hussain SZ , Hyams JS , Isaacs KL , Kader H , Kappelman MD , Katz J , Kellermayer R , Kuemmerle JF , Lazarev M , Li E , Mannon P , Moulton DE , Newberry RD , Patel AS , Pekow J , Saeed SA , Valentine JF , Wang MH , McCauley JL , Abreu MT , Jester T , Molle-Rios Z , Palle S , Scherl EJ , Kwon J , Rioux JD , Duerr RH , Silverberg MS , Zwick ME , Stevens C , Daly MJ , Cho JH , Gibson G , McGovern DPB , Brant SR , Kugathasan S
Published On :2021 Mar 4
Journal Article Research Support, N.I.H., Extramural


RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.

Authors :Brownstein CA , Smith RS , Rodan LH , Gorman MP , Hojlo MA , Garvey EA , Li J , Cabral K , Bowen JJ , Rao AS , Genetti CA , Carroll D , Deaso EA , Agrawal PB , Rosenfeld JA , Bi W , Howe J , Stavropoulos DJ , Hansen AW , Hamoda HM , Pinard F , Caracansi A , Walsh CA , D'Angelo EJ , Beggs AH , Zarrei M , Gibbs RA , Scherer SW , Glahn DC , Gonzalez-Heydrich J
Published On :2021 May
Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Population-specific causal disease effect sizes in functionally important regions impacted by selection.

Authors :Shi H , Gazal S , Kanai M , Koch EM , Schoech AP , Siewert KM , Kim SS , Luo Y , Amariuta T , Huang H , Okada Y , Raychaudhuri S , Sunyaev SR , Price AL
Published On :2021 Feb 17
Journal Article Research Support, N.I.H., Extramural


The seroprevalence and kinetics of IgM and IgG in the progression of COVID-19.

Authors :Qin X , Shen J , Dai E , Li H , Tang G , Zhang L , Hou X , Lu M , Wu X , Duan S , Zhang J , Tsoi MF , Jiang P , Li Y
Published On :2021 Feb 17
Journal Article Multicenter Study Research Support, Non-U.S. Gov't


Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.

Authors :Haisma SM , Weersma RK , Joosse ME , de Koning BAE , de Meij T , Koot BGP , Wolters V , Norbruis O , Daly MJ , Stevens C , Xavier RJ , Koskela J , Rivas MA , Visschedijk MC , Verkade HJ , Barbieri R , Jansen DBH , Festen EAM , van Rheenen PF , van Diemen CC
Published On :2021 May
Journal Article Multicenter Study Research Support, Non-U.S. Gov't


Association of Parental Consanguinity With Papillary Thyroid Carcinoma: A Case-Control Study.

Authors :Zayed AA , Amarin JZ , Al-Ani AT , Altell TL , Abdelhamid SS , Qirem MM , Fahmawi SM , Elshebli SM , Hamo KM , Zaghlol LY , Tierney ME , Zayed JA , Haghighi A
Published On :2021 Jun 16
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Authors :Kobren SN , Baldridge D , Velinder M , Krier JB , LeBlanc K , Esteves C , Pusey BN , Züchner S , Blue E , Lee H , Huang A , Bastarache L , Bican A , Cogan J , Marwaha S , Alkelai A , Murdock DR , Liu P , Wegner DJ , Paul AJ , Undiagnosed Diseases Network , Sunyaev SR , Kohane IS
Published On :2021 Jun
Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural


MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.

Authors :Doan RN , Miller MB , Kim SN , Rodin RE , Ganz J , Bizzotto S , Morillo KS , Huang AY , Digumarthy R , Zemmel Z , Walsh CA
Published On :2021 Feb 12
Journal Article Validation Study


Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.

Authors :Zaidi AH , Yamada JM , Miller DT , McEnaney K , Ireland C , Roberts AE , Gauvreau K , Jenkins KJ , Chen MH
Published On :2021 Feb 10
Journal Article


Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?

Authors :Berry GT , Freeze HH , Morava E
Published On :2021 Feb
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Comment


Deep diversification of an AAV capsid protein by machine learning.

Authors :Bryant DH , Bashir A , Sinai S , Jain NK , Ogden PJ , Riley PF , Church GM , Colwell LJ , Kelsic ED
Published On :2021 Jun
Letter Research Support, Non-U.S. Gov't


Electrochemically dealloyed nanoporous Fe(40)Ni(20)Co(20)P(15)C(5) metallic glass for efficient and stable electrocatalytic hydrogen and oxygen generation.

Authors :Aneeshkumar KS , Tseng JC , Liu X , Tian J , Diao D , Shen J
Published On :2021 Feb 10
Journal Article


Preoperative prediction of axillary sentinel lymph node burden with multiparametric MRI-based radiomics nomogram in early-stage breast cancer.

Authors :Zhang X , Yang Z , Cui W , Zheng C , Li H , Li Y , Lu L , Mao J , Zeng W , Yang X , Zheng J , Shen J
Published On :2021 Aug
Journal Article


Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses.

Authors :Chan YK , Wang SK , Chu CJ , Copland DA , Letizia AJ , Costa Verdera H , Chiang JJ , Sethi M , Wang MK , Neidermyer WJ Jr , Chan Y , Lim ET , Graveline AR , Sanchez M , Boyd RF , Vihtelic TS , Inciong RGCO , Slain JM , Alphonse PJ , Xue Y , Robinson-McCarthy LR , Tam JM , Jabbar MH , Sahu B , Adeniran JF , Muhuri M , Tai PWL , Xie J , Krause TB , Vernet A , Pezone M , Xiao R , Liu T , Wang W , Kaplan HJ , Gao G , Dick AD , Mingozzi F , McCall MA , Cepko CL , Church GM
Published On :2021 Feb 10
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


High rates of de novo malignancy compromise post-heart transplantation survival.

Authors :Giuliano K , Canner JK , Etchill E , Suarez-Pierre A , Choi CW , Higgins RSD , Hsu S , Sharma K , Kilic A
Published On :2021 Apr
Journal Article