Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

(2015) Brett Deml et al.   PLoS Genetics

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

(2015) Sergio I. Nemirovsky et al.   PLoS One

Whole exome analysis identifies dominantCOL4A1mutations in patients with complex ocular phenotypes involving microphthalmia

(2014) B. Deml et al.   CLINICAL GENETICS

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

(2014) Paul D Brady et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The genetic architecture of microphthalmia, anophthalmia and coloboma

(2014) Kathleen A. Williamson et al.   European Journal of Medical Genetics

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Whole exome sequence analysis of Peters anomaly

(2014) Eric Weh et al.   HUMAN GENETICS

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

(2014) Satoko Miyatake et al.   NEUROMUSCULAR DISORDERS

Identification of anHMGB3Frameshift Mutation in a Family With an X-linked Colobomatous Microphthalmia Syndrome Using Whole-Genome and X-Exome Sequencing

(2014) Alan F. Scott et al.   JAMA Ophthalmology

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

(2013) N. Chassaing et al.   CLINICAL GENETICS

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

(2013) KF Schilter et al.   CLINICAL GENETICS

The homeobox gene Otx2 in development and disease

(2013) Francis Beby et al.   EXPERIMENTAL EYE RESEARCH

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features

(2013) Simon E. Skalicky et al.   JAMA Ophthalmology

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

(2013) Christina Gerth-Kahlert et al.   Molecular Genetics & Genomic Medicine

Norrie disease: Extraocular clinical manifestations in 56 patients

(2012) Sharon E. Smith et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?

(2012) NK Ragge et al.   CLINICAL GENETICS

Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients

(2011) X Zhang et al.   EYE

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

(2011) Linda M. Reis et al.   HUMAN GENETICS

OTX2 directly activates cell cycle genes and inhibits differentiation in medulloblastoma cells

(2011) Jens Bunt et al.   INTERNATIONAL JOURNAL OF CANCER

Eye development genes and known syndromes

(2011) Anne M. Slavotinek   MOLECULAR GENETICS AND METABOLISM

Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novelPAX6mutation

(2011) Xueshan Xiao et al.   OPHTHALMIC GENETICS

FOXE3plays a significant role in autosomal recessive microphthalmia

(2010) Linda M. Reis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

(2010) KF Schilter et al.   CLINICAL GENETICS

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

(2010) Konstantinos Nikopoulos et al.   HUMAN MUTATION

Expression of the Homeobox Genes OTX2 and OTX1 in the Early Developing Human Brain

(2010) Karen B. Larsen et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

NovelSOX2mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

(2009) Adele Schneider et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Compound heterozygosity for mutations inPAX6in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

(2009) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel heterozygousOTX2mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

(2008) Alexander Wyatt et al.   HUMAN MUTATION