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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Authors :Qi C , Feng I , Costa AR , Pinto-Costa R , Neil JE , Caluseriu O , Li D , Ganetzky RD , Brasch-Andersen C , Fagerberg C , Hansen LK , Bupp C , Muraresku CC , Ruan X , Kang B , Hu K , Zhong R , Brites P , Bhoj EJ , Hill RS , Falk MJ , Hakonarson H , Kahle KT , Sousa MM , Walsh CA , Zhang X
Published On :2022 Feb
Journal Article


A coarse-refine segmentation network for COVID-19 CT images.

Authors :Huang Z , Li L , Zhang X , Song Y , Chen J , Zhao H , Chong Y , Wu H , Yang Y , Shen J , Zha Y
Published On :2022 Feb
Journal Article


Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.

Authors :Bychkovsky BL , Lo MT , Yussuf A , Horton C , Richardson M , LaDuca H , Garber JE , Rana HQ
Published On :2022 Mar 15
Journal Article


Maintenance of Complex Trait Variation: Classic Theory and Modern Data.

Authors :Koch EM , Sunyaev SR
Published On :2021
Journal Article Review


Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information.

Authors :Maihofer AX , Choi KW , Coleman JRI , Daskalakis NP , Denckla CA , Ketema E , Morey RA , Polimanti R , Ratanatharathorn A , Torres K , Wingo AP , Zai CC , Aiello AE , Almli LM , Amstadter AB , Andersen SB , Andreassen OA , Arbisi PA , Ashley-Koch AE , Austin SB , Avdibegović E , Borglum AD , Babić D , Bækvad-Hansen M , Baker DG , Beckham JC , Bierut LJ , Bisson JI , Boks MP , Bolger EA , Bradley B , Brashear M , Breen G , Bryant RA , Bustamante AC , Bybjerg-Grauholm J , Calabrese JR , Caldas-de-Almeida JM , Chen CY , Dale AM , Dalvie S , Deckert J , Delahanty DL , Dennis MF , Disner SG , Domschke K , Duncan LE , Džubur Kulenović A , Erbes CR , Evans A , Farrer LA , Feeny NC , Flory JD , Forbes D , Franz CE , Galea S , Garrett ME , Gautam A , Gelaye B , Gelernter J , Geuze E , Gillespie CF , Goçi A , Gordon SD , Guffanti G , Hammamieh R , Hauser MA , Heath AC , Hemmings SMJ , Hougaard DM , Jakovljević M , Jett M , Johnson EO , Jones I , Jovanovic T , Qin XJ , Karstoft KI , Kaufman ML , Kessler RC , Khan A , Kimbrel NA , King AP , Koen N , Kranzler HR , Kremen WS , Lawford BR , Lebois LAM , Lewis C , Liberzon I , Linnstaedt SD , Logue MW , Lori A , Lugonja B , Luykx JJ , Lyons MJ , Maples-Keller JL , Marmar C , Martin NG , Maurer D , Mavissakalian MR , McFarlane A , McGlinchey RE , McLaughlin KA , McLean SA , Mehta D , Mellor R , Michopoulos V , Milberg W , Miller MW , Morris CP , Mors O , Mortensen PB , Nelson EC , Nordentoft M , Norman SB , O'Donnell M , Orcutt HK , Panizzon MS , Peters ES , Peterson AL , Peverill M , Pietrzak RH , Polusny MA , Rice JP , Risbrough VB , Roberts AL , Rothbaum AO , Rothbaum BO , Roy-Byrne P , Ruggiero KJ , Rung A , Rutten BPF , Saccone NL , Sanchez SE , Schijven D , Seedat S , Seligowski AV , Seng JS , Sheerin CM , Silove D , Smith AK , Smoller JW , Sponheim SR , Stein DJ , Stevens JS , Teicher MH , Thompson WK , Trapido E , Uddin M , Ursano RJ , van den Heuvel LL , Van Hooff M , Vermetten E , Vinkers CH , Voisey J , Wang Y , Wang Z , Werge T , Williams MA , Williamson DE , Winternitz S , Wolf C , Wolf EJ , Yehuda R , Young KA , Young RM , Zhao H , Zoellner LA , Haas M , Lasseter H , Provost AC , Salem RM , Sebat J , Shaffer RA , Wu T , Ripke S , Daly MJ , Ressler KJ , Koenen KC , Stein MB , Nievergelt CM
Published On :2022 Apr 1
Journal Article Meta-Analysis


IMIIN: An inter-modality information interaction network for 3D multi-modal breast tumor segmentation.

Authors :Peng C , Zhang Y , Zheng J , Li B , Shen J , Li M , Liu L , Qiu B , Chen DZ
Published On :2022 Jan
Journal Article


Prospects for Antibacterial Discovery and Development.

Authors :Privalsky TM , Soohoo AM , Wang J , Walsh CT , Wright GD , Gordon EM , Gray NS , Khosla C
Published On :2021 Dec 22
Journal Article


Variant interpretation using population databases: Lessons from gnomAD.

Authors :Gudmundsson S , Singer-Berk M , Watts NA , Phu W , Goodrich JK , Solomonson M , Genome Aggregation Database Consortium , Rehm HL , MacArthur DG , O'Donnell-Luria A
Published On :2022 Aug
Journal Article Review


Understanding and managing the interactive impacts of growth in urban land use and climate change on freshwater biota: A case study using the platypus (Ornithorhynchus anatinus).

Authors :Coleman RA , Chee YE , Bond NR , Weeks A , Griffiths J , Serena M , Williams GA , Walsh CJ
Published On :2022 Feb
Journal Article


Results of a 5-Year N-of-1 Growth Hormone Releasing Hormone Gene Therapy Experiment.

Authors :Hanley BP , Brewer K , Church G
Published On :2021 Dec
Journal Article


Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.

Authors :Borges-Monroy R , Chu C , Dias C , Choi J , Lee S , Gao Y , Shin T , Park PJ , Walsh CA , Lee EA
Published On :2021 Nov 27
Journal Article


Deep learning enables genetic analysis of the human thoracic aorta.

Authors :Pirruccello JP , Chaffin MD , Chou EL , Fleming SJ , Lin H , Nekoui M , Khurshid S , Friedman SF , Bick AG , Arduini A , Weng LC , Choi SH , Akkad AD , Batra P , Tucker NR , Hall AW , Roselli C , Benjamin EJ , Vellarikkal SK , Gupta RM , Stegmann CM , Juric D , Stone JR , Vasan RS , Ho JE , Hoffmann U , Lubitz SA , Philippakis AA , Lindsay ME , Ellinor PT
Published On :2022 Jan
Journal Article


Reply to: On powerful GWAS in admixed populations.

Authors :Atkinson EG , Bloemendal A , Maihofer AX , Nievergelt CM , Daly MJ , Neale BM
Published On :2021 Dec
Letter Comment


Bayesian model comparison for rare-variant association studies.

Authors :Venkataraman GR , DeBoever C , Tanigawa Y , Aguirre M , Ioannidis AG , Mostafavi H , Spencer CCA , Poterba T , Bustamante CD , Daly MJ , Pirinen M , Rivas MA
Published On :2021 Dec 2
Journal Article


GA4GH Passport standard for digital identity and access permissions.

Authors :Voisin C , Linden M , Dyke SOM , Bowers SR , Alper P , Barkley MP , Bernick D , Chao J , Courtot M , Jeanson F , Konopko MA , Kuba M , Lawson J , Leinonen J , Li S , Ota Wang V , Philippakis AA , Reinold K , Rushton GA , Spalding JD , Törnroos J , Tulchinsky I , Guidry Auvil JM , Nyrönen TH
Published On :2021 Nov 10
Journal Article