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Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.

Authors :Blümcke I , Coras R , Busch RM , Morita-Sherman M , Lal D , Prayson R , Cendes F , Lopes-Cendes I , Rogerio F , Almeida VS , Rocha CS , Sim NS , Lee JH , Kim SH , Baulac S , Baldassari S , Adle-Biassette H , Walsh CA , Bizzotto S , Doan RN , Morillo KS , Aronica E , Mühlebner A , Becker A , Cienfuegos J , Garbelli R , Giannini C , Honavar M , Jacques TS , Thom M , Mahadevan A , Miyata H , Niehusmann P , Sarnat HB , Söylemezoglu F , Najm I
Published On :2021 Jun
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't



Coordinated β-globin expression and α2-globin reduction in a multiplex lentiviral gene therapy vector for β-thalassemia.

Authors :Nualkaew T , Sii-Felice K , Giorgi M , McColl B , Gouzil J , Glaser A , Voon HPJ , Tee HY , Grigoriadis G , Svasti S , Fucharoen S , Hongeng S , Leboulch P , Payen E , Vadolas J
Published On :2021 Sep 1
Journal Article Research Support, Non-U.S. Gov't


Parameters Indicating Development of Influenza-Associated Acute Necrotizing Encephalopathy: Experiences from a Single Center.

Authors :Li S , Hu D , Li P , Xiao W , Li H , Liu G , Song Y , Ning S , Peng Q , Zhao D , Situ M , Li W , Wu P , Zheng J , Liu Y , Hu L , Wang P , Hu Z , Ma W , Shen J , Yang S
Published On :2021 May 2
Journal Article


Globally diverse Mycobacterium tuberculosis resistance acquisition: a retrospective geographical and temporal analysis of whole genome sequences.

Authors :Ektefaie Y , Dixit A , Freschi L , Farhat MR
Published On :2021 Mar
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease.

Authors :Helkkula P , Kiiskinen T , Havulinna AS , Karjalainen J , Koskinen S , Salomaa V , Daly MJ , Palotie A , Surakka I , Ripatti S , FinnGen
Published On :2021 Apr
Journal Article Research Support, Non-U.S. Gov't


High-throughput functional variant screens via in vivo production of single-stranded DNA.

Authors :Schubert MG , Goodman DB , Wannier TM , Kaur D , Farzadfard F , Lu TK , Shipman SL , Church GM
Published On :2021 May 4
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


In ovo electroporation of chicken limb bud ectoderm: Electroporation to chick limb ectoderm: Electroporation to chick limb ectoderm.

Authors :Tomizawa RR , Tabin CJ , Atsuta Y
Published On :2022 Sep
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


Multisystem outcomes and predictors of mortality in critically ill patients with COVID-19: Demographics and disease acuity matter more than comorbidities or treatment modalities.

Authors :Alser O , Mokhtari A , Naar L , Langeveld K , Breen KA , El Moheb M , Kapoen C , Gaitanidis A , Christensen MA , Maurer LR , Mashbari H , Bankhead-Kendall B , Parks J , Fawley J , Saillant N , Mendoza A , Paranjape C , Fagenholz P , King D , Lee J , Farhat MR , Velmahos GC , Kaafarani HMA
Published On :2021 May 1
Journal Article Observational Study


Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.

Authors :Goli R , Li J , Brandimarto J , Levine LD , Riis V , McAfee Q , DePalma S , Haghighi A , Seidman JG , Seidman CE , Jacoby D , Macones G , Judge DP , Rana S , Margulies KB , Cappola TP , Alharethi R , Damp J , Hsich E , Elkayam U , Sheppard R , Alexis JD , Boehmer J , Kamiya C , Gustafsson F , Damm P , Ersbøll AS , Goland S , Hilfiker-Kleiner D , McNamara DM , IMAC-2 and IPAC Investigators , Arany Z
Published On :2021 May 11
Journal Article


A form of muscular dystrophy associated with pathogenic variants in JAG2.

Authors :Coppens S , Barnard AM , Puusepp S , Pajusalu S , Õunap K , Vargas-Franco D , Bruels CC , Donkervoort S , Pais L , Chao KR , Goodrich JK , England EM , Weisburd B , Ganesh VS , Gudmundsson S , O'Donnell-Luria A , Nigul M , Ilves P , Mohassel P , Siddique T , Milone M , Nicolau S , Maroofian R , Houlden H , Hanna MG , Quinlivan R , Beiraghi Toosi M , Ghayoor Karimiani E , Costagliola S , Deconinck N , Kadhim H , Macke E , Lanpher BC , Klee EW , Łusakowska A , Kostera-Pruszczyk A , Hahn A , Schrank B , Nishino I , Ogasawara M , El Sherif R , Stojkovic T , Nelson I , Bonne G , Cohen E , Boland-Augé A , Deleuze JF , Meng Y , Töpf A , Vilain C , Pacak CA , Rivera-Zengotita ML , Bönnemann CG , Straub V , Handford PA , Draper I , Walter GA , Kang PB
Published On :2021 May 6
Journal Article


A deep-learning pipeline for the diagnosis and discrimination of viral, non-viral and COVID-19 pneumonia from chest X-ray images.

Authors :Wang G , Liu X , Shen J , Wang C , Li Z , Ye L , Wu X , Chen T , Wang K , Zhang X , Zhou Z , Yang J , Sang Y , Deng R , Liang W , Yu T , Gao M , Wang J , Yang Z , Cai H , Lu G , Zhang L , Yang L , Xu W , Wang W , Olvera A , Ziyar I , Zhang C , Li O , Liao W , Liu J , Chen W , Chen W , Shi J , Zheng L , Zhang L , Yan Z , Zou X , Lin G , Cao G , Lau LL , Mo L , Liang Y , Roberts M , Sala E , Schönlieb CB , Fok M , Lau JY , Xu T , He J , Zhang K , Li W , Lin T
Published On :2021 Jun
Journal Article Multicenter Study Research Support, Non-U.S. Gov't


Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

Authors :Wahlster L , Verboon JM , Ludwig LS , Black SC , Luo W , Garg K , Voit RA , Collins RL , Garimella K , Costello M , Chao KR , Goodrich JK , DiTroia SP , O'Donnell-Luria A , Talkowski ME , Michelson AD , Cantor AB , Sankaran VG
Published On :2021 Jun 7
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Authors :Neuser S , Brechmann B , Heimer G , Brösse I , Schubert S , O'Grady L , Zech M , Srivastava S , Sweetser DA , Dincer Y , Mall V , Winkelmann J , Behrends C , Darras BT , Graham RJ , Jayakar P , Byrne B , Bar-Aluma BE , Haberman Y , Szeinberg A , Aldhalaan HM , Hashem M , Al Tenaiji A , Ismayl O , Al Nuaimi AE , Maher K , Ibrahim S , Khan F , Houlden H , Ramakumaran VS , Pagnamenta AT , Posey JE , Lupski JR , Tan WH , ElGhazali G , Herman I , Muñoz T , Repetto GM , Seitz A , Krumbiegel M , Poli MC , Kini U , Efthymiou S , Meiler J , Maroofian R , Alkuraya FS , Abou Jamra R , Popp B , Ben-Zeev B , Ebrahimi-Fakhari D
Published On :2021 Jun
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Systematic Review


Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.

Authors :Natarajan P , Pampana A , Graham SE , Ruotsalainen SE , Perry JA , de Vries PS , Broome JG , Pirruccello JP , Honigberg MC , Aragam K , Wolford B , Brody JA , Antonacci-Fulton L , Arden M , Aslibekyan S , Assimes TL , Ballantyne CM , Bielak LF , Bis JC , Cade BE , Do R , Doddapaneni H , Emery LS , Hung YJ , Irvin MR , Khan AT , Lange L , Lee J , Lemaitre RN , Martin LW , Metcalf G , Montasser ME , Moon JY , Muzny D , O'Connell JR , Palmer ND , Peralta JM , Peyser PA , Stilp AM , Tsai M , Wang FF , Weeks DE , Yanek LR , Wilson JG , Abecasis G , Arnett DK , Becker LC , Blangero J , Boerwinkle E , Bowden DW , Chang YC , Chen YI , Choi WJ , Correa A , Curran JE , Daly MJ , Dutcher SK , Ellinor PT , Fornage M , Freedman BI , Gabriel S , Germer S , Gibbs RA , He J , Hveem K , Jarvik GP , Kaplan RC , Kardia SLR , Kenny E , Kim RW , Kooperberg C , Laurie CC , Lee S , Lloyd-Jones DM , Loos RJF , Lubitz SA , Mathias RA , Martinez KAV , McGarvey ST , Mitchell BD , Nickerson DA , North KE , Palotie A , Park CJ , Psaty BM , Rao DC , Redline S , Reiner AP , Seo D , Seo JS , Smith AV , Tracy RP , Vasan RS , Kathiresan S , Cupples LA , Rotter JI , Morrison AC , Rich SS , Ripatti S , Willer C , NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium , FinnGen , Peloso GM
Published On :2021 Apr 12
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't