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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Authors :Tshering KC , DiStefano MT , Oza AM , Ajuyah P , Webb R , Edoh E , Broeren E , Ratliff J , Gitau V , Paris K , Aburyyan A , Alexander J , Albano V , Bai D , Booth KTA , Buonfiglio PI , Charfeddine C , Dalamón V , Castillo ID , Moreno-Pelayo MA , Duzkale H , Dorshorst B , Faridi R , Kenna M , Lewis MA , Luo M , Lu Y , Mkaouar R , Matsunaga T , Nara K , Pandya A , Redfield S , Roux I , Schimmenti LA , Schrauwen I , Shaaban S , Shen J , Vona B , Smith RJ , Rehm HL , Azaiez H , Abou Tayoun AN , Amr SS , ClinGen Hearing Loss Clinical Domain Working Group
Published On :2025 May
Journal Article


Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.

Authors :Carbonell E , Stenton SL , Ganesh VS , Ma J , VanNoy GE , Pais L , Gaitanis JN , O'Leary MC , Rehm HL , O'Donnell-Luria A
Published On :2025 Apr 10
Journal Article



Active cell proliferation contributes to the enlargement of the nascent nucleus pulposus.

Authors :Long RG , Lee C , Tabin CJ
Published On :2025 Feb 20
Journal Article


[Retracted] Naringenin has a chemoprotective effect in MDA‑MB‑231 breast cancer cells via inhibition of caspase‑3 and ‑9 activities.

Authors :Wang R , Wang J , Dong T , Shen J , Gao X , Zhou J
Published On :2025 Apr
Journal Article


Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank.

Authors :Davis SM , Liu A , Teerlink CC , Lapato DM , Gorman B , Genovese G , Singh M , Reeve MP , Gentry AE , Donner KM , Sipilä TP , Ghazal A , Pagadala MS , Panizzon MS , Lancaster EE , FinnGen banner authorship , UKB working group authorship , Chatzinakos C , Ganna A , Bigdeli TB , Daly MJ , Lynch JA , Ross J , Peterson RE , Hauger RL
Published On :2025 Feb 2
Journal Article


Patient Determinants and Effects on Adherence of Adverse Drug Reactions to Tuberculosis Treatment: A Prospective Cohort Analysis.

Authors :Tzelios CA , Malatesta S , Carney T , White LF , Weber SE , Thomson S , Theron D , Myers B , Parry CDH , Warren RM , Horsburgh CR , Farhat MR , Jacobson KR
Published On :2025 Feb 20
Journal Article


Genetic Mapping of Orofacial Traits Reveals a Single Genomic Region Associated With Differences in Multiple Parameters of Jaw Size Between Astyanax mexicanus Surface and Cavefish.

Authors :Powers AK , Amaismeier A , Thiel K , Anyonge W , McGaugh SE , Boggs TE , Tabin CJ , Gross JB
Published On :2025 Feb 20
Journal Article


Complete genome sequence of a virulent barcoded Mycobacterium tuberculosis str. Erdman commonly used for non-human primate infection studies.

Authors :Marin MG , Chase MR , Quinones N , Wakabayashi S , Mugahid D , Fortune SM , Farhat MR , Chao MC
Published On :2025 Mar 11
Journal Article


Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.

Authors :Rubio-Gozalbo ME , Naomi Vos E , Rivera I , Lai K , Berry GT
Published On :2025 Mar
Journal Article Review


Comparison of face-to-face teaching and online teaching in neurosurgery education for medical students.

Authors :Shen J , Zhang S , Sun D , Ge R , Chen S , Fang J , An Q
Published On :2025 Feb 13
Journal Article


Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report.

Authors :Hill SY , Edenberg HJ , Corvin A , Thorgeirsson T , Below JE , Goldman D , Leal S , Almasy L , Cox NJ , Daly M , Neale B , Vrieze S , Zoghbi H
Published On :2025 Feb
Journal Article


The new definition of metabolic syndrome including hyperuricemia improves its prognostic value: results from NHANES database.

Authors :Zhang Z , Pang Y , Shen J , Chen W , Hao C , Lei Z
Published On :2025 Feb 11
Journal Article