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Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project.

Authors :Del Rosario MC , Walmsley SA , Harrison BW , Stephens CT , Zettler B , Rivera-Cruz G , Agrawal P , Brower A , Chigbu S , Christensen KD , Genetti CA , Givens R , Gold NB , Reeves IV , Schichter I , Shariat H , Simon S , Smith HS , Uveges M , Green RC , Holm IA , Pereira S
Published On :2024 Oct 7
Journal Article


Perinatal Reduction of Genetically Aberrant Neurons from Human Cerebral Cortex.

Authors :Shao DD , Zhao Y , Ghosh U , Brew J , Zhao S , Qian X , Tran J , Taketomi T , Tsuruta F , Park PJ , Walsh CA
Published On :2024 Oct 9
Journal Article


Quantifying constraint in the human mitochondrial genome.

Authors :Lake NJ , Ma K , Liu W , Battle SL , Laricchia KM , Tiao G , Puiu D , Ng KK , Cohen J , Compton AG , Cowie S , Christodoulou J , Thorburn DR , Zhao H , Arking DE , Sunyaev SR , Lek M
Published On :2024 Nov
Journal Article


Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Authors :Seaby EG , Godwin A , Meyer-Dilhet G , Clerc V , Grand X , Fletcher T , Monteiro L , Kerkhofs M , Carelli V , Palombo F , Seri M , Olivucci G , Grippa M , Ciaccio C , D'Arrigo S , Iascone M , Bermudez M , Fischer J , Di Donato N , Goesswein S , Leung ML , Koboldt DC , Myers C , Arnadottir GA , Stefansson K , Sulem P , Goldberg EM , Bruel AL , Tran-Mau-Them F , Willems M , Bjornsson HT , Hognason HB , Thorolfsdottir ET , Agolini E , Novelli A , Zampino G , Onesimo R , Lachlan K , Baralle D , Rehm HL , O'Donnell-Luria A , Courchet J , Guille M , Bourgeois CF , Ennis S
Published On :2025 Apr 3
Journal Article


ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.

Authors :Almontashiri NAM , Alharby E , Saleh M , Abu-Farha M , Alasmari A , Gebbia M , Hiesl C , Peake RWA , Amr SS , Boles E , Roth FP , Abubaker J
Published On :2025 Feb
Journal Article


Research Progress of Drugs in Prevention and Treatment of Nephrolithiasis.

Authors :Xia SS , Shen J , Shen KW , Wang Q , Cen WH
Published On :2024 Dec
Journal Article Review


Predicting poststroke cognitive impairment after acute ischemic stroke based on admission characteristics.

Authors :Yang X , Wei M , Chen P , Shen J , Tong Q , Tian X , Han Q
Published On :2024 Dec
Journal Article


A Genome-Wide Association Study Reveals a Novel Susceptibility Locus for Pancreas Divisum at 3q29.

Authors :Gaitanidis A , Christensen MA , Breen KA , Kambadakone AR , Joshipura ND , Fernandez-Del Castillo C , Hernandez-Barco YG , Kaafarani HMA , Velmahos GC , Farhat MR , Fagenholz PJ
Published On :2024 Nov
Journal Article


Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer.

Authors :Agaoglu NB , Ng OH , Zemheri IE , Unal B , Gerenli N , Tosun I , Yazıcı H , Ozbek U , Kamihara J , Rana HQ
Published On :2025 Feb
Journal Article


Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes.

Authors :Maury EA , Jones A , Seplyarskiy V , Nguyen TTL , Rosenbluh C , Bae T , Wang Y , Abyzov A , Khoshkhoo S , Chahine Y , Zhao S , Venkatesh S , Root E , Voloudakis G , Roussos P , Brain Somatic Mosaicism Network‡ , Park PJ , Akbarian S , Brennand K , Reilly S , Lee EA , Sunyaev SR , Walsh CA , Chess A
Published On :2024 Oct 11
Journal Article


FAVOR-GPT: a generative natural language interface to whole genome variant functional annotations.

Authors :Li TC , Zhou H , Verma V , Tang X , Shao Y , Van Buren E , Weng Z , Gerstein M , Neale B , Sunyaev SR , Lin X
Published On :2024
Journal Article


Expansion in situ genome sequencing links nuclear abnormalities to hotspots of aberrant euchromatin repression.

Authors :Labade AS , Chiang ZD , Comenho C , Reginato PL , Payne AC , Earl AS , Shrestha R , Duarte FM , Habibi E , Zhang R , Church GM , Boyden ES , Chen F , Buenrostro JD
Published On :2024 Sep 26
Journal Article



Physician-dentist dual referral model concept for coordinated bone anabolic therapy.

Authors :Latimer JM , Travan S , Berkey FD , Sugai JV , Giannobile WV
Published On :2024 Nov
Journal Article