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Progress in Retinal and Eye Research|April 29, 2009
Functional roles of bestrophins in ocular epitheliaAlan D Marmorstein, Harold E Cross, Neal S Peachey
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 24, 2009
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3Michael A Simpson, Harold E Cross, Leroy Cross, et al.
Plos Genetics|November 20, 2020
No association between SCN9A and monogenic human epilepsy disordersJames Fasham, Joseph S Leslie, Jamie W Harrison, et al.
European Journal of Human Genetics : EJHG|September 20, 2019
MNS1 variant associated with situs inversus and male infertilityJoseph S Leslie, Lettie E Rawlins, Barry A Chioza, et al.
Parkinsonism & Related Disorders|December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoformOlivia J Rickman, Claire G Salter, Adam C Gunning, et al.
American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.
Plos Genetics|September 27, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorderZineb Ammous, Lettie E Rawlins, Hannah Jones, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
Human Molecular Genetics|July 11, 2014
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expressionWilliam C Wilson, Hue-Tran Hornig-Do, Francesco Bruni, et al.
NPJ Genomic Medicine|January 14, 2022
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, et al.
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