D. Galutira

The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26.

O. Lockridge, P. Allderdice, B. N. Ladu, 1991, Genomics.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

T. Walsh, M. King, B. Fernandez, 2009, European Journal of Human Genetics.

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

P. Hu, S. Agrawal, T. Young, 2021, Human genetics.

Identical twins discordant for multiple sclerosis have a shift in their T‐cell receptor repertoires

T. Murray, V. Gadag, P. O'Connor, 2003, Clinical and experimental immunology.

Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity, Founder Effects and the First Cases of Jalili Syndrome in North America

J. Schwartzentruber, T. Young, Jane S Green, 2013, Ophthalmic genetics.

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

T. Young, D. O’Rielly, Jane S Green, 2020, European Journal of Human Genetics.

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

T. Young, D. O’Rielly, Jane S Green, 2020, European Journal of Human Genetics.