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American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
The New England Journal of Medicine|December 27, 2018
Diagnostic Utility of Exome Sequencing for Kidney DiseaseEmily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literatureParisa Hemati, Anya Revah-Politi, Haim Bassan, et al.
The Journal of the Association of Physicians of India|June 24, 2025
Bridging the Gap: Managing Hypertension in Indian Patients with Metabolic SyndromeJ S Hiremath, G S Wander, A Dasbiswas, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Physical Review Letters|February 16, 2026
Black Hole Spectroscopy and Tests of General Relativity with GW250114A G Abac, I Abouelfettouh, F Acernese, et al.
Physical Review Letters|September 26, 2025
GW250114: Testing Hawking's Area Law and the Kerr Nature of Black HolesA G Abac, I Abouelfettouh, F Acernese, et al.
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