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American Journal of Human Genetics|August 30, 2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.Science Advances|May 1, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafishVictoria Patterson, Farid Ullah, Laura Bryant, et al.Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.Brain : a Journal of Neurology|April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, 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.Pageof 5