List of works - Adele Schneider

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

scientific article

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

scientific article published on 21 June 2017

ACMG position statement on prenatal/preconception expanded carrier screening ⬇️

scientific article published on April 25, 2013

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

scientific article published on 15 April 2013

An 18-year follow-up report on an infant with a duplication of 9q34

scientific article published on 01 January 2010

Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum

scientific article published on 16 April 2013

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

scientific article

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

scientific article

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry

scientific article published in January 2005

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

scientific article published on February 22, 2011

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

scientific article

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

scientific article published on 01 December 2010

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

scientific article published on 01 August 2021

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

scientific article published on 01 May 2002

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

scientific article published on 13 December 2020

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

scientific article

Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal

article

FOXE3 plays a significant role in autosomal recessive microphthalmia

scientific article

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

scientific article

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

scientific article published on 27 April 2016

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies ⬇️

scientific article published on November 11, 2010

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog ⬇️

scientific article published on July 1, 2012

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

scientific article published on 24 March 2008

Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases

scientific article

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

Microphthalmia/Anophthalmia/Coloboma Spectrum

scientific article published on 9 July 2015

Monozygotic twins discordant for VACTERL association

scientific article published on 01 April 2008

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

scientific article

Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

scientific article

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

scientific article published in December 2009

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

scientific article

Ocular manifestations of PACS1 mutation

scientific article published on 14 March 2018

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

scientific article

Ophthalmic manifestations associated with RARB mutations

scientific article published on 01 January 2019

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

scientific article published on 31 January 2012

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing

scientific article

Role of SOX2 mutations in human hippocampal malformations and epilepsy

scientific article published in March 2006

SOX2 anophthalmia syndrome

scientific article published in May 2005

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

scientific article published on 18 July 2016

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations ⬇️

scientific article published on December 28, 2011

The genetics of anophthalmia and microphthalmia ⬇️

scientific article published on September 1, 2011

VAX1mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of aVAX1phenotype in humans ⬇️

scientific article published on December 27, 2011

List of works by Adele Schneider

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

ACMG position statement on prenatal/preconception expanded carrier screening ⬇️

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

An 18-year follow-up report on an infant with a duplication of 9q34

Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry

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

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal

FOXE3 plays a significant role in autosomal recessive microphthalmia

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies ⬇️

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog ⬇️

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Microphthalmia/Anophthalmia/Coloboma Spectrum

Monozygotic twins discordant for VACTERL association

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

Ocular manifestations of PACS1 mutation

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Ophthalmic manifestations associated with RARB mutations

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing

Role of SOX2 mutations in human hippocampal malformations and epilepsy

SOX2 anophthalmia syndrome

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations ⬇️

The genetics of anophthalmia and microphthalmia ⬇️

VAX1mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of aVAX1phenotype in humans ⬇️