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Joanne E. Sutherland

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
2017 · Anath C. Lionel, Gregory Costain, et al. · Genetics in Medicine · 557
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Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma
2003 · Suzanne Richter, Kirk Vandezande, et al. · The American Journal of Human Genetics · 328
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Isolation and characterization of a major tandem repeat family from the human X chromosome
1983 · Huntington F. Willard, Kirby D. Smith, et al. · Nucleic Acids Research · 246
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Frequency of Somatic and Germ-Line Mosaicism in Retinoblastoma: Implications for Genetic Counseling
1998 · Kimberly C. Sippel, Rebecca E. Fraioli, et al. · The American Journal of Human Genetics · 203
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
2012 · Pei-Wen Chiang, Juan Wang, et al. · Nature Genetics · 139
Human Ribosomal RNA Genes: Orientation of the Tandem Array and Conservation of the 5′ End
1988 · Ronald G. Worton, Joanne Sutherland, et al. · Science · 129
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly
2001 · Andrea Vincent, Gail Billingsley, et al. · Journal of Medical Genetics · 110
Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma
2003 · Angela Punnett, Ikuko Teshima, et al. · American Journal of Medical Genetics Part A · 75
Management and outcome of unilateral retinoblastoma
2009 · Ashwin C. Mallipatna, Joanne E. Sutherland, et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 61
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium
2014 · Ajoy Vincent, Nicole Forster, et al. · Journal of Medical Genetics · 47
Psychosocial Adjustment to Visual Loss in Patients with Retinitis Pigmentosa
2007 · Dalbhir Jangra, Anuradha Ganesh, et al. · Ophthalmic Genetics · 37
The Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease
2007 · Yair Morad, Joanne Sutherland, et al. · Canadian Journal of Ophthalmology · 28
Genetic counseling and genetic testing in ophthalmology
2009 · Joanne E Sutherland, Megan A Day · Current Opinion in Ophthalmology · 22
Mutational analysis of the OA1 gene in ocular albinism
2003 · Olivier Camand, Sandrine Boutboul, et al. · Ophthalmic Genetics · 20
Mutation analysis of the tyrosinase gene in oculocutaneous albinism
2001 · Olivier Camand, Dominique Marchant, et al. · Human Mutation · 18
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Eight previously unidentified mutations found in the OA1ocular albinism gene
2006 · Hélène Mayeur, Olivier Roche, et al. · BMC Medical Genetics · 14
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Advantages and disadvantages of molecular testing in ophthalmology
2011 · Joanne E Sutherland, Megan A Day · Expert Review of Ophthalmology · 8
Utility of molecular testing for related retinal dystrophies
2006 · Eedy Mezer, Joanne Sutherland, et al. · Canadian Journal of Ophthalmology · 7
Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
2021 · Melanie P. Napier, Kavin Selvan, et al. · Eye · 6
Impact of carrier status determination for Duchenne/Becker muscular dystrophy by computer-assisted laser densitometry
1998 · Diane J. Allingham-Hawkins, Leslie K. McGlynn-Steele, et al. · American Journal of Medical Genetics · 6
Ocular Manifestations of Chromosomal Abnormalities
2012 · Sorath Noorani Siddiqui, Alex V. Levin, et al. · 3
Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions
1996 · Jennifer L. Fitzpatrick, Elaine M. Hutton, et al. · Journal of Genetic Counseling · 2
Genetic Counseling for Genetic Eye Disorders
2012 · Joanne E. Sutherland · 1
Genetic Counseling for Inherited Eye Disorders
2025 · Joanne E. Sutherland, Alexandria C. Haseley, et al.
Correction: Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
2022 · Melanie P. Napier, Kavin Selvan, et al. · Eye
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Works count: 28
Citation count: 2,067
H-index: 15
I10-index: 16
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