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Rare variants in genes coding for components of the terminal pathway of the complement system in preeclampsia.

Authors :Lokki A , Triebwasser M , Daly E , Cohort F , Kurki M , Perola M , Auro K , Salmon J , Java A , Daly M , Atkinson J , Laivuori H , Meri S
Published On :2024 Apr 2
Journal Article


The landscape of regional missense mutational intolerance quantified from 125,748 exomes.

Authors :Chao KR , Wang L , Panchal R , Liao C , Abderrazzaq H , Ye R , Schultz P , Compitello J , Grant RH , Kosmicki JA , Weisburd B , Phu W , Wilson MW , Laricchia KM , Goodrich JK , Goldstein D , Goldstein JI , Vittal C , Poterba T , Baxter S , Watts NA , Solomonson M , gnomAD Consortium , Tiao G , Rehm HL , Neale BM , Talkowski ME , MacArthur DG , O'Donnell-Luria A , Karczewski KJ , Radivojac P , Daly MJ , Samocha KE
Published On :2024 May 3
Journal Article


De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Authors :Chen Y , Dawes R , Kim HC , Stenton SL , Walker S , Ljungdahl A , Lord J , Ganesh VS , Ma J , Martin-Geary AC , Lemire G , D'Souza EN , Dong S , Ellingford JM , Adams DR , Allan K , Bakshi M , Baldwin EE , Berger SI , Bernstein JA , Brown NJ , Burrage LC , Chapman K , Compton AG , Cunningham CA , D'Souza P , Délot EC , Dias KR , Elias ER , Evans CA , Ewans L , Ezell K , Fraser JL , Gallacher L , Genetti CA , Grant CL , Haack T , Kuechler A , Lalani SR , Leitão E , Fevre AL , Leventer RJ , Liebelt JE , Lockhart PJ , Ma AS , Macnamara EF , Maurer TM , Mendez HR , Montgomery SB , Nassogne MC , Neumann S , O'Leary M , Palmer EE , Phillips J , Pitsava G , Pysar R , Rehm HL , Reuter CM , Revencu N , Riess A , Rius R , Rodan L , Roscioli T , Rosenfeld JA , Sachdev R , Simons C , Sisodiya SM , Snell P , Clair L , Stark Z , Tan TY , Tan NB , Temple SE , Thorburn DR , Tifft CJ , Uebergang E , VanNoy GE , Vilain E , Viskochil DH , Wedd L , Wheeler MT , White SM , Wojcik M , Wolfe LA , Wolfenson Z , Xiao C , Zocche D , Rubenstein JL , Markenscoff-Papadimitriou E , Fica SM , Baralle D , Depienne C , MacArthur DG , Howson JM , Sanders SJ , O'Donnell-Luria A , Whiffin N
Published On :2024 Apr 9
Journal Article


Harnessing Artificial Intelligence to Address Oral Health Disparities.

Authors :Elani HW , Giannobile WV
Published On :2024 Apr 5
Journal Article


Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata.

Authors :Kipnis LM , Breen KM , Koeller DR , Levine AS , Yang Z , Jun H , Tayob N , Stokes SM , Hayes CP , Ghazani AA , Hill SJ , Rana HQ
Published On :2024 May 2
Journal Article


For Tuberculosis, Not "To Screen or Not to Screen?" but "Who?" and "How?".

Authors :Farhat MR , Jacobson KR
Published On :2024 Jun 14
Editorial Comment


KMT2E-Related Neurodevelopmental Disorder.

Authors :Adam MP , Feldman J , Mirzaa GM , Pagon RA , Wallace SE , Amemiya A , Pais L , Rodan L , O'Donnell-Luria A
Published On :1993
Review


Laser therapy decreases oral leukoplakia recurrence and boosts patient comfort: a network meta-analysis and systematic review.

Authors :Luo R , Wang Y , Li R , Ma Y , Chen H , Zhang J , Shen J
Published On :2024 Apr 17
Journal Article Meta-Analysis


SadNet: a novel multimodal fusion network for protein-ligand binding affinity prediction.

Authors :Hong Q , Zhou G , Qin Y , Shen J , Li H
Published On :2024 Apr 24
Journal Article


White matter hyperintensities mediate the association between frailty and cognitive impairment in moyamoya disease.

Authors :Du J , Qu C , Xu Z , Liu Z , Lv M , Wang D , Wei W , Duan Y , Shen J
Published On :2024 May
Journal Article


Experimental observation of current-driven antiskyrmion sliding in stripe domains.

Authors :He Z , Li Z , Chen Z , Wang Z , Shen J , Wang S , Song C , Zhao T , Cai J , Lin SZ , Zhang Y , Shen B
Published On :2024 Aug
Journal Article


Transcriptomic responses to antibiotic exposure in Mycobacterium tuberculosis.

Authors :Poonawala H , Zhang Y , Kuchibhotla S , Green AG , Cirillo DM , Di Marco F , Spitlaeri A , Miotto P , Farhat MR
Published On :2024 May 2
Journal Article


Analysis of the limited M. tuberculosis accessory genome reveals potential pitfalls of pan-genome analysis approaches.

Authors :Marin MG , Wippel C , Quinones-Olvera N , Behruznia M , Jeffrey BM , Harris M , Mann BC , Rosenthal A , Jacobson KR , Warren RM , Li H , Meehan CJ , Farhat MR
Published On :2024 May 4
Journal Article


Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Authors :Jurgens JA , Barry BJ , Chan WM , MacKinnon S , Whitman MC , Matos Ruiz PM , Pratt BM , England EM , Pais L , Lemire G , Groopman E , Glaze C , Russell KA , Singer-Berk M , Di Gioia SA , Lee AS , Andrews C , Shaaban S , Wirth MM , Bekele S , Toffoloni M , Bradford VR , Foster EE , Berube L , Rivera-Quiles C , Mensching FM , Sanchis-Juan A , Fu JM , Wong I , Zhao X , Wilson MW , Weisburd B , Lek M , Ocular CCDD Phenotyping Consortium , Brand H , Talkowski ME , MacArthur DG , O'Donnell-Luria A , Robson CD , Hunter DG , Engle EC
Published On :2024 Mar 26
Journal Article


Bibliometric analysis of research trends and hotspots on robot-assisted thyroid surgery.

Authors :Shi XT , Shen J , Sun YY
Published On :2024 Apr 5
Journal Article