Share

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Authors :Engel C , Valence S , Delplancq G , Maroofian R , Accogli A , Agolini E , Alkuraya FS , Baglioni V , Bagnasco I , Becmeur-Lefebvre M , Bertini E , Borggraefe I , Brischoux-Boucher E , Bruel AL , Brusco A , Bubshait DK , Cabrol C , Cilio MR , Cornet MC , Coubes C , Danhaive O , Delague V , Denommé-Pichon AS , Di Giacomo MC , Doco-Fenzy M , Engels H , Cremer K , Gérard M , Gleeson JG , Heron D , Goffeney J , Guimier A , Harms FL , Houlden H , Iacomino M , Kaiyrzhanov R , Kamien B , Karimiani EG , Kraus D , Kuentz P , Kutsche K , Lederer D , Massingham L , Mignot C , Morris-Rosendahl D , Nagarajan L , Odent S , Ormières C , Partlow JN , Pasquier L , Penney L , Philippe C , Piccolo G , Poulton C , Putoux A , Rio M , Rougeot C , Salpietro V , Scheffer I , Schneider A , Srivastava S , Straussberg R , Striano P , Valente EM , Venot P , Villard L , Vitobello A , Wagner J , Wagner M , Zaki MS , Zara F , Lesca G , Yassaee VR , Miryounesi M , Hashemi-Gorji F , Beiraghi M , Ashrafzadeh F , Galehdari H , Walsh C , Novelli A , Tacke M , Sadykova D , Maidyrov Y , Koneev K , Shashkin C , Capra V , Zamani M , Van Maldergem L , Burglen L , Piard J
Published On :2023 Sep
Journal Article


Sr(14.06)Gd(14.63)(BO(3))(24): A Gadolinium-Rich Borate with Magnetic Refrigeration Performance.

Authors :Chen Y , Liu W , Wang D , Wang N , Fan F , Shen J , Zhang G , Song H , Tu H
Published On :2023 Jul 3
Journal Article


Antenna Modification in a Fast-Growing Cyanobacterium Synechococcus elongatus UTEX 2973 Leads to Improved Efficiency and Carbon-Neutral Productivity.

Authors :Sengupta A , Bandyopadhyay A , Schubert MG , Church GM , Pakrasi HB
Published On :2023 Aug 17
Journal Article


A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Authors :Jangam SV , Briere LC , Jay KL , Andrews JC , Walker MA , Rodan LH , High FA , Undiagnosed Diseases Network , Yamamoto S , Sweetser DA , Wangler MF
Published On :2023 Aug 9
Journal Article



Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

Authors :Oddsson A , Sulem P , Sveinbjornsson G , Arnadottir GA , Steinthorsdottir V , Halldorsson GH , Atlason BA , Oskarsson GR , Helgason H , Nielsen HS , Westergaard D , Karjalainen JM , Katrinardottir H , Fridriksdottir R , Jensson BO , Tragante V , Ferkingstad E , Jonsson H , Gudjonsson SA , Beyter D , Moore KHS , Thordardottir HB , Kristmundsdottir S , Stefansson OA , Rantapää-Dahlqvist S , Sonderby IE , Didriksen M , Stridh P , Haavik J , Tryggvadottir L , Frei O , Walters GB , Kockum I , Hjalgrim H , Olafsdottir TA , Selbaek G , Nyegaard M , Erikstrup C , Brodersen T , Saevarsdottir S , Olsson T , Nielsen KR , Haraldsson A , Bruun MT , Hansen TF , DBDS Genomic Consortium , Steingrimsdottir T , Jacobsen RL , Lie RT , Djurovic S , Alfredsson L , Lopez de Lapuente Portilla A , Brunak S , Melsted P , Halldorsson BV , Saemundsdottir J , Magnusson OT , Padyukov L , Banasik K , Rafnar T , Askling J , Klareskog L , Pedersen OB , Masson G , Havdahl A , Nilsson B , Andreassen OA , Daly M , Ostrowski SR , Jonsdottir I , Stefansson H , Holm H , Helgason A , Thorsteinsdottir U , Stefansson K , Gudbjartsson DF
Published On :2023 Jun 10
Journal Article



High-throughput RNA isoform sequencing using programmed cDNA concatenation.

Authors :Al'Khafaji AM , Smith JT , Garimella KV , Babadi M , Popic V , Sade-Feldman M , Gatzen M , Sarkizova S , Schwartz MA , Blaum EM , Day A , Costello M , Bowers T , Gabriel S , Banks E , Philippakis AA , Boland GM , Blainey PC , Hacohen N
Published On :2024 Apr
Journal Article


Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.

Authors :Wang X , Khurshid S , Choi SH , Friedman S , Weng LC , Reeder C , Pirruccello JP , Singh P , Lau ES , Venn R , Diamant N , Di Achille P , Philippakis A , Anderson CD , Ho JE , Ellinor PT , Batra P , Lubitz SA
Published On :2023 Aug
Journal Article


Detecting lesion-specific ischemia in patients with coronary artery disease with computed tomography fractional flow reserve measured at different sites.

Authors :Cai Z , Yu T , Yang Z , Hu H , Lin Y , Zhang H , Chen M , Shi G , Shen J
Published On :2023 Jun 6
Journal Article


Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.

Authors :Vockley J , Burton BK , Berry G , Longo N , Phillips J , Sanchez-Valle A , Chapman KA , Tanpaiboon P , Grunewald S , Murphy E , Lu X , Rahman S , Ray K , Reineking B , Pisani L , Ramirez AN
Published On :2023 Sep
Clinical Trial Journal Article


The landscape of tolerated genetic variation in humans and primates.

Authors :Gao H , Hamp T , Ede J , Schraiber JG , McRae J , Singer-Berk M , Yang Y , Dietrich ASD , Fiziev PP , Kuderna LFK , Sundaram L , Wu Y , Adhikari A , Field Y , Chen C , Batzoglou S , Aguet F , Lemire G , Reimers R , Balick D , Janiak MC , Kuhlwilm M , Orkin JD , Manu S , Valenzuela A , Bergman J , Rousselle M , Silva FE , Agueda L , Blanc J , Gut M , de Vries D , Goodhead I , Harris RA , Raveendran M , Jensen A , Chuma IS , Horvath JE , Hvilsom C , Juan D , Frandsen P , de Melo FR , Bertuol F , Byrne H , Sampaio I , Farias I , do Amaral JV , Messias M , da Silva MNF , Trivedi M , Rossi R , Hrbek T , Andriaholinirina N , Rabarivola CJ , Zaramody A , Jolly CJ , Phillips-Conroy J , Wilkerson G , Abee C , Simmons JH , Fernandez-Duque E , Kanthaswamy S , Shiferaw F , Wu D , Zhou L , Shao Y , Zhang G , Keyyu JD , Knauf S , Le MD , Lizano E , Merker S , Navarro A , Bataillon T , Nadler T , Khor CC , Lee J , Tan P , Lim WK , Kitchener AC , Zinner D , Gut I , Melin A , Guschanski K , Schierup MH , Beck RMD , Umapathy G , Roos C , Boubli JP , Lek M , Sunyaev S , O'Donnell-Luria A , Rehm HL , Xu J , Rogers J , Marques-Bonet T , Farh KK
Published On :2023 Jun 2
Journal Article


Rare penetrant mutations confer severe risk of common diseases.

Authors :Fiziev PP , McRae J , Ulirsch JC , Dron JS , Hamp T , Yang Y , Wainschtein P , Ni Z , Schraiber JG , Gao H , Cable D , Field Y , Aguet F , Fasnacht M , Metwally A , Rogers J , Marques-Bonet T , Rehm HL , O'Donnell-Luria A , Khera AV , Farh KK
Published On :2023 Jun 2
Journal Article


Discordant calls across genotype discovery approaches elucidate variants with systematic errors.

Authors :Atkinson EG , Artomov M , Loboda AA , Rehm HL , MacArthur DG , Karczewski KJ , Neale BM , Daly MJ
Published On :2023 Jun
Journal Article


Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.

Authors :Dias CM , Issac B , Sun L , Lukowicz A , Talukdar M , Akula SK , Miller MB , Walsh K , Rockowitz S , Walsh CA
Published On :2023 Jun 6
Journal Article