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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

Authors :Huang Y , Lemire G , Briere LC , Liu F , Wessels MW , Wang X , Osmond M , Kanca O , Lu S , High FA , Walker MA , Rodan LH , Undiagnosed Diseases Network , Care4Rare Canada Consortium , Kernohan KD , Sweetser DA , Boycott KM , Bellen HJ
Published On :2022 Oct 6
Journal Article



Galactose epimerase deficiency: lessons from the GalNet registry.

Authors :Derks B , Demirbas D , Arantes RR , Banford S , Burlina AB , Cabrera A , Chiesa A , Couce ML , Dionisi-Vici C , Gautschi M , Grünewald S , Morava E , Möslinger D , Scholl-Bürgi S , Skouma A , Stepien KM , Timson DJ , Berry GT , Rubio-Gozalbo ME
Published On :2022 Sep 2
Journal Article


Improving medical student recruitment into neurosurgery through teaching reform.

Authors :Shen J , Yuan L , Ge R , Shao X , Jiang X
Published On :2022 Sep 2
Journal Article Randomized Controlled Trial


Call for action: expanding global access to hereditary cancer genetic testing.

Authors :Bychkovsky B , Rana HQ , Ademuyiwa F , Plichta J , Anderson K , Nogueira-Rodrigues A , Santa-Maria CA , Coffman LG , Marquez C , Das A , Taghian A , Koeller DR , Sandoval RL , Park BH , Dizon DS
Published On :2022 Sep
Journal Article


helixCAM: A platform for programmable cellular assembly in bacteria and human cells.

Authors :Chao G , Wannier TM , Gutierrez C , Borders NC , Appleton E , Chadha A , Lebar T , Church GM
Published On :2022 Sep 15
Journal Article


Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.

Authors :Atkinson EG , Dalvie S , Pichkar Y , Kalungi A , Majara L , Stevenson A , Abebe T , Akena D , Alemayehu M , Ashaba FK , Atwoli L , Baker M , Chibnik LB , Creanza N , Daly MJ , Fekadu A , Gelaye B , Gichuru S , Injera WE , James R , Kariuki SM , Kigen G , Koen N , Koenen KC , Koenig Z , Kwobah E , Kyebuzibwa J , Musinguzi H , Mwema RM , Neale BM , Newman CP , Newton CRJC , Ongeri L , Ramachandran S , Ramesar R , Shiferaw W , Stein DJ , Stroud RE , Teferra S , Yohannes MT , Zingela Z , Martin AR , NeuroGAP-Psychosis Study Team
Published On :2022 Sep 1
Journal Article


Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity.

Authors :Choudhury S , Huang AY , Kim J , Zhou Z , Morillo K , Maury EA , Tsai JW , Miller MB , Lodato MA , Araten S , Hilal N , Lee EA , Chen MH , Walsh CA
Published On :2022 Aug
Journal Article


Deep learning on resting electrocardiogram to identify impaired heart rate recovery.

Authors :Diamant N , Di Achille P , Weng LC , Lau ES , Khurshid S , Friedman S , Reeder C , Singh P , Wang X , Sarma G , Ghadessi M , Mielke J , Elci E , Kryukov I , Eilken HM , Derix A , Ellinor PT , Anderson CD , Philippakis AA , Batra P , Lubitz SA , Ho JE
Published On :2022 Aug
Journal Article


Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.

Authors :Sazonovs A , Stevens CR , Venkataraman GR , Yuan K , Avila B , Abreu MT , Ahmad T , Allez M , Ananthakrishnan AN , Atzmon G , Baras A , Barrett JC , Barzilai N , Beaugerie L , Beecham A , Bernstein CN , Bitton A , Bokemeyer B , Chan A , Chung D , Cleynen I , Cosnes J , Cutler DJ , Daly A , Damas OM , Datta LW , Dawany N , Devoto M , Dodge S , Ellinghaus E , Fachal L , Farkkila M , Faubion W , Ferreira M , Franchimont D , Gabriel SB , Ge T , Georges M , Gettler K , Giri M , Glaser B , Goerg S , Goyette P , Graham D , Hämäläinen E , Haritunians T , Heap GA , Hiltunen M , Hoeppner M , Horowitz JE , Irving P , Iyer V , Jalas C , Kelsen J , Khalili H , Kirschner BS , Kontula K , Koskela JT , Kugathasan S , Kupcinskas J , Lamb CA , Laudes M , Lévesque C , Levine AP , Lewis JD , Liefferinckx C , Loescher BS , Louis E , Mansfield J , May S , McCauley JL , Mengesha E , Mni M , Moayyedi P , Moran CJ , Newberry RD , O'Charoen S , Okou DT , Oldenburg B , Ostrer H , Palotie A , Paquette J , Pekow J , Peter I , Pierik MJ , Ponsioen CY , Pontikos N , Prescott N , Pulver AE , Rahmouni S , Rice DL , Saavalainen P , Sands B , Sartor RB , Schiff ER , Schreiber S , Schumm LP , Segal AW , Seksik P , Shawky R , Sheikh SZ , Silverberg MS , Simmons A , Skeiceviciene J , Sokol H , Solomonson M , Somineni H , Sun D , Targan S , Turner D , Uhlig HH , van der Meulen AE , Vermeire S , Verstockt S , Voskuil MD , Winter HS , Young J , Belgium IBD Consortium , Cedars-Sinai IBD , International IBD Genetics Consortium , NIDDK IBD Genetics Consortium , NIHR IBD BioResource , Regeneron Genetics Center , SHARE Consortium , SPARC IBD Network , UK IBD Genetics Consortium , Duerr RH , Franke A , Brant SR , Cho J , Weersma RK , Parkes M , Xavier RJ , Rivas MA , Rioux JD , McGovern DPB , Huang H , Anderson CA , Daly MJ
Published On :2022 Sep
Journal Article


The All of Us Research Program: Data quality, utility, and diversity.

Authors :Ramirez AH , Sulieman L , Schlueter DJ , Halvorson A , Qian J , Ratsimbazafy F , Loperena R , Mayo K , Basford M , Deflaux N , Muthuraman KN , Natarajan K , Kho A , Xu H , Wilkins C , Anton-Culver H , Boerwinkle E , Cicek M , Clark CR , Cohn E , Ohno-Machado L , Schully SD , Ahmedani BK , Argos M , Cronin RM , O'Donnell C , Fouad M , Goldstein DB , Greenland P , Hebbring SJ , Karlson EW , Khatri P , Korf B , Smoller JW , Sodeke S , Wilbanks J , Hentges J , Mockrin S , Lunt C , Devaney SA , Gebo K , Denny JC , Carroll RJ , Glazer D , Harris PA , Hripcsak G , Philippakis A , Roden DM , All of Us Research Program
Published On :2022 Aug 12
Journal Article


Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations.

Authors :Koch EM , Du J , Dressner M , Alwasti HE , Al Taif Z , Shehab F , Mohamed AM , Ghanem A , Alhajeri A , Alawadhi A , Almoamen N , Ashoor K , Hasan S , Haghighi A , Sunyaev S , Farhat M
Published On :2023 Oct 12
Journal Article


Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.

Authors :Burton BK , Hermida Á , Bélanger-Quintana A , Bell H , Bjoraker KJ , Christ SE , Grant ML , Harding CO , Huijbregts SCJ , Longo N , McNutt MC 2nd , Nguyen-Driver MD , Santos Pessoa AL , Rocha JC , Sacharow S , Sanchez-Valle A , Sivri HS , Vockley J , Walterfang M , Whittle S , Muntau AC
Published On :2022 Sep-Oct
Journal Article



The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Authors :Lai A , Soucy A , El Achkar CM , Barkovich AJ , Cao Y , DiStefano M , Evenson M , Guerrini R , Knight D , Lee YS , Mefford HC , Miller DT , Mirzaa G , Mochida G , Rodan LH , Patel M , Smith L , Spencer S , Walsh CA , Yang E , Yuskaitis CJ , Yu T , Poduri A , ClinGen Brain Malformation Variant Curation Expert Panel
Published On :2022 Nov
Journal Article