Published in Am J Hum Genet on July 22, 2003
Ancestral proportions and their association with skin pigmentation and bone mineral density in Puerto Rican women from New York city. Hum Genet (2004) 2.00
Regressive evolution in Astyanax cavefish. Annu Rev Genet (2009) 1.97
The genetics of sun sensitivity in humans. Am J Hum Genet (2004) 1.84
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol (2012) 1.56
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Mol Vis (2011) 1.00
Molecular and clinical characterization of albinism in a large cohort of Italian patients. Invest Ophthalmol Vis Sci (2011) 0.99
[Phenotype of the visual system in oculocutaneous and ocular albinism]. Ophthalmologe (2007) 0.99
Comparative oncology: what dogs and other species can teach us about humans with cancer. Philos Trans R Soc Lond B Biol Sci (2015) 0.91
An intracellular anion channel critical for pigmentation. Elife (2014) 0.84
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Mol Vis (2013) 0.82
Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. J Dermatol Sci (2012) 0.79
Identification of genes associated with shell color in the black-lipped pearl oyster, Pinctada margaritifera. BMC Genomics (2015) 0.78
Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa. J Skin Cancer (2015) 0.75
Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet (1995) 4.97
Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet (2000) 4.74
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell (1999) 4.67
The cloning of a family of genes that encode the melanocortin receptors. Science (1992) 4.64
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell (1993) 3.84
Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol (2000) 2.83
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet (2001) 2.43
Evidence for variable selective pressures at MC1R. Am J Hum Genet (2000) 2.43
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science (1992) 2.23
Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol (2001) 2.16
Human pigmentation genes: identification, structure and consequences of polymorphic variation. Gene (2001) 2.03
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med (1994) 1.98
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab (1999) 1.91
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum Mol Genet (2000) 1.85
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet (2001) 1.83
Melanocortin 1 receptor variation in the domestic dog. Mamm Genome (2000) 1.83
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet (1996) 1.82
Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum Mol Genet (1997) 1.70
Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol (2001) 1.69
MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet (2001) 1.67
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat (1999) 1.67
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics (1995) 1.60
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet (2003) 1.54
Current understanding on the role of retinal pigment epithelium and its pigmentation. Pigment Cell Res (1999) 1.51
Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem Biophys Res Commun (1999) 1.48
The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina. Curr Biol (1995) 1.46
Functional variation of MC1R alleles from red-haired individuals. Hum Mol Genet (2001) 1.38
Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Proc Natl Acad Sci U S A (1994) 1.35
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. FASEB J (2001) 1.33
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet (2001) 1.28
Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology (1988) 1.26
Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res (2002) 1.24
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet (1997) 1.23
Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab (1998) 1.20
The melanosome: the perfect model for cellular responses to the environment. Pigment Cell Res (2000) 1.12
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Hum Genet (2001) 1.10
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet (1994) 1.08
Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor. Biochem Biophys Res Commun (1998) 1.07
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects. Hum Mutat (1997) 1.05
The melanocortin-1 receptor: red hair and beyond. Arch Dermatol (2001) 1.03
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat (2000) 1.01
Vision in albinism. Trans Am Ophthalmol Soc (1996) 1.01
Correlation between rod photoreceptor numbers and levels of ocular pigmentation. Invest Ophthalmol Vis Sci (2002) 0.99
The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye. Exp Eye Res (1999) 0.97
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. Hum Genet (1999) 0.96
Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online. Hum Mutat (1998) 0.94
Variable expression of vision in sibs with albinism. Am J Med Genet (1991) 0.93
Rod photopigment deficits in albinos are specific to mammals and arise during retinal development. Vis Neurosci (2001) 0.92
Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype. Forensic Sci Int (2001) 0.88
Delayed neurogenesis in the albino retina: evidence of a role for melanin in regulating the pace of cell generation. Brain Res Dev Brain Res (1996) 0.88
Red or rufous albinism in southern Africa. Ophthalmic Paediatr Genet (1990) 0.86
The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution. Gene (2001) 0.84
Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons. Electrophoresis (1994) 0.79
Diagnosis of oculocutaneous albinism with molecular analysis. Am J Ophthalmol (1996) 0.78
Further evidence for synthesis of screening pigment granules involved in the photosensory membrane turnover of the crayfish photoreceptor. Pigment Cell Res (1990) 0.77
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). Hum Mutat (1997) 0.76
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
15-year outcomes following threshold retinopathy of prematurity: final results from the multicenter trial of cryotherapy for retinopathy of prematurity. Arch Ophthalmol (2005) 3.13
Risk analysis of prethreshold retinopathy of prematurity. Arch Ophthalmol (2003) 2.37
Updated estimate of AQP4-IgG serostatus and disability outcome in neuromyelitis optica. Neurology (2013) 2.34
Aquaporin-4-binding autoantibodies in patients with neuromyelitis optica impair glutamate transport by down-regulating EAAT2. J Exp Med (2008) 2.26
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Hum Mutat (2007) 2.16
Molecular outcomes of neuromyelitis optica (NMO)-IgG binding to aquaporin-4 in astrocytes. Proc Natl Acad Sci U S A (2011) 2.11
Social outcomes in mid- to later adulthood among individuals diagnosed with autism and average nonverbal IQ as children. J Am Acad Child Adolesc Psychiatry (2013) 2.05
Arrested development: high-resolution imaging of foveal morphology in albinism. Vision Res (2010) 1.62
Diagnosis of neuromyelitis spectrum disorders: comparative sensitivities and specificities of immunohistochemical and immunoprecipitation assays. Arch Neurol (2009) 1.61
Genetic and clinical determinants of early, acute calcineurin inhibitor-related nephrotoxicity: results from a kidney transplant consortium. Transplantation (2012) 1.58
Cognitive and language skills in adults with autism: a 40-year follow-up. J Child Psychol Psychiatry (2013) 1.57
Prediction of neuromyelitis optica attack severity by quantitation of complement-mediated injury to aquaporin-4-expressing cells. Arch Neurol (2009) 1.55
Strabismus and amblyopia in bilateral Peters anomaly. J AAPOS (2006) 1.54
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS (2013) 1.52
Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation. Transplantation (2011) 1.51
The prevalence of attention-deficit/hyperactivity disorder among persons with albinism. J Child Neurol (2007) 1.47
The unique association of iris heterochromia with Hermansky-Pudlak syndrome. J AAPOS (2013) 1.39
Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol (2011) 1.35
Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis (2012) 1.32
The Minnesota Center for Twin and Family Research genome-wide association study. Twin Res Hum Genet (2012) 1.29
Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium. Transplantation (2011) 1.29
Dosing equation for tacrolimus using genetic variants and clinical factors. Br J Clin Pharmacol (2011) 1.29
A genome-wide association study of behavioral disinhibition. Behav Genet (2013) 1.28
The natural history of glaucoma and ocular hypertension after pediatric cataract surgery. J AAPOS (2006) 1.27
X-linked high myopia associated with cone dysfunction. Arch Ophthalmol (2004) 1.23
Prevalence of myopia at 9 months in infants with high-risk prethreshold retinopathy of prematurity. Ophthalmology (2005) 1.21
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet (2003) 1.19
Spectrum of foveal development in albinism detected with optical coherence tomography. J AAPOS (2006) 1.18
Astrocytic autoantibody of neuromyelitis optica (NMO-IgG) binds to aquaporin-4 extracellular loops, monomers, tetramers and high order arrays. J Autoimmun (2012) 1.16
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet (2010) 1.13
Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res (2003) 1.12
Mendelian randomization: a novel test of the gateway hypothesis and models of gene-environment interplay. Dev Psychopathol (2007) 1.11
Clinical characteristics of children with severe visual impairment but favorable retinal structural outcomes from the Early Treatment for Retinopathy of Prematurity (ETROP) study. J AAPOS (2013) 1.10
Roles for GFRalpha1 receptors in zebrafish enteric nervous system development. Development (2003) 1.06
Temporal stability of the urinary proteome after kidney transplant: more sensitive than protein composition? J Proteome Res (2009) 1.03
Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene interaction in a case-control study. BMC Med Genet (2009) 1.03
Variations in the catechol O-methyltransferase polymorphism and prefrontally guided behaviors in adolescents. Biol Psychiatry (2006) 1.02
High-order SNP combinations associated with complex diseases: efficient discovery, statistical power and functional interactions. PLoS One (2012) 1.00
Severe visual impairment in children with mild or moderate retinal residua following regressed threshold retinopathy of prematurity. J AAPOS (2007) 0.98
Visual acuity at 10 years in Cryotherapy for Retinopathy of Prematurity (CRYO-ROP) study eyes: effect of retinal residua of retinopathy of prematurity. Arch Ophthalmol (2006) 0.97
Reading acuity in albinism: evaluation with MNREAD charts. J AAPOS (2011) 0.97
Validation of tacrolimus equation to predict troughs using genetic and clinical factors. Pharmacogenomics (2012) 0.94
Change in visual acuity in albinism in the early school years. J Pediatr Ophthalmol Strabismus (2011) 0.93
Developmental trajectory and environmental moderation of the effect of ALDH2 polymorphism on alcohol use. Alcohol Clin Exp Res (2012) 0.91
Health-related quality of life at age 10 years in very low-birth-weight children with and without threshold retinopathy of prematurity. Arch Ophthalmol (2004) 0.91
Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. Transplantation (2010) 0.91
Educational and social competencies at 8 years in children with threshold retinopathy of prematurity in the CRYO-ROP multicenter study. Pediatrics (2004) 0.90
Efficacy of spectacles in persons with albinism. J AAPOS (2004) 0.89
Pharmacogenetic effect of the UGT polymorphisms on mycophenolate is modified by calcineurin inhibitors. Eur J Clin Pharmacol (2008) 0.88
Paradoxical urinary phenytoin metabolite (S)/(R) ratios in CYP2C19*1/*2 patients. Epilepsy Res (2006) 0.86
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet A (2009) 0.86
Neurodevelopment in children with albinism. Ophthalmology (2008) 0.86
Multilocus association testing with penalized regression. Genet Epidemiol (2011) 0.85
Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol (2010) 0.85
Correlation of recognition visual acuity with posterior retinal structure in advanced retinopathy of prematurity. Arch Ophthalmol (2012) 0.84
Outcome of angle surgery in children with aphakic glaucoma. J AAPOS (2010) 0.84
A dimension reduction approach for modeling multi-locus interaction in case-control studies. Hum Hered (2011) 0.84
Ophthalmic manifestations of Wolf-Hirschhorn syndrome. J AAPOS (2004) 0.83
Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society. Hum Mutat (2014) 0.83
Correlation of grating acuity with letter recognition acuity in children with albinism. J AAPOS (2006) 0.83
Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX. Chromosome Res (2004) 0.82
Inflammation in the setting of chronic allograft dysfunction post-kidney transplant: phenotype and genotype. Clin Transplant (2013) 0.82
Differential genotype dependent inhibition of CYP2C9 in humans. Drug Metab Dispos (2008) 0.82
Positive angle kappa in albinism. J AAPOS (2004) 0.81
Grating acuity in albinism in the first three years of life. J AAPOS (2002) 0.81
Clinical Insights Into Foveal Morphology in Albinism. J Pediatr Ophthalmol Strabismus (2015) 0.80
Gamma-aminobutyric acid system genes--no evidence for a role in alcohol use and abuse in a community-based sample. Alcohol Clin Exp Res (2014) 0.80
Outcomes in adult life among siblings of individuals with autism. J Autism Dev Disord (2015) 0.80
β-Blocking and racial variation in the severity of retinopathy of prematurity. Arch Ophthalmol (2012) 0.79
A comparison of treatment approaches for bilateral congenital nasolacrimal duct obstruction. Am J Ophthalmol (2013) 0.79
Glaucoma following cataract surgery in children: surgically modifiable risk factors. Trans Am Ophthalmol Soc (2005) 0.79
Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis. Acta Ophthalmol (2011) 0.79
Positive angle kappa: a possible sign of aniridia. Am Orthopt J (2012) 0.78
Development of a scalable pharmacogenomic clinical decision support service. AMIA Jt Summits Transl Sci Proc (2013) 0.78
AQP4-IgG immunoprecipitation assay optimization. Clin Chem (2009) 0.78
Functional and structural outcomes following lensectomy for ectopia lentis. J AAPOS (2005) 0.78
Reading skills in children and adults with albinism: the role of visual impairment. J Pediatr Ophthalmol Strabismus (2011) 0.77
Urinary Peptide patterns in native kidneys and kidney allografts. Transplantation (2009) 0.76
Grating visual acuity results in the early treatment for retinopathy of prematurity study. Arch Ophthalmol (2011) 0.76
Tacrolimus trough levels after month 3 as a predictor of acute rejection following kidney transplantation: a lesson learned from DeKAF Genomics. Transpl Int (2013) 0.76
Evaluation of vision-specific quality-of-life in albinism. J AAPOS (2009) 0.76
Outcome of penetrating keratoplasty for mucopolysaccharidoses. Arch Ophthalmol (2011) 0.76
Unilateral inferior oblique anterior transposition for dissociated vertical deviation. J AAPOS (2004) 0.76
Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome. J AAPOS (2007) 0.76
Linkage analysis of a cluster-based quantitative phenotype constructed from pulmonary function test data in 27 multigenerational families with multiple asthmatic members. Hum Hered (2007) 0.76
Correlation of recognition visual acuity with posterior retinal structure in advanced retinopathy of prematurity. Arch Ophthalmol (2012) 0.76