Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

(2020) Jana Čopíková et al.   ANNALS OF HUMAN GENETICS

A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome

(2020) Wenmin Sun et al.   OPHTHALMIC AND PHYSIOLOGICAL OPTICS

Homozygous Type IX collagen variants ( COL9A1 , COL9A2 , and COL9A3 ) causing recessive Stickler syndrome—Expanding the phenotype

(2019) Thomas R. W. Nixon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stickler syndrome

(2019) Razek Georges Coussa et al.   CURRENT OPINION IN OPHTHALMOLOGY

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

(2018) Andrea Hanson-Kahn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome

(2018) Tin K. Chan et al.   CLINICAL GENETICS

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients

(2016) Frederic R. Acke et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

(2015)   GENETICS IN MEDICINE

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

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

(2015) Fatema Alzahrani et al.   HUMAN GENETICS

An approach to pediatric exome and genome sequencing

(2014) Leslie G. Biesecker et al.   CURRENT OPINION IN PEDIATRICS

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

(2014) Frederic R. Acke et al.   MOLECULAR GENETICS AND METABOLISM

Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene

(2013) Flavio Faletra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Next-Generation Sequencing Revolution and Its Impact on Genomics

(2013) Daniel C. Koboldt et al.   CELL

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

(2013) I. Schrauwen et al.   CLINICAL GENETICS

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

(2013) Vandana Shashi et al.   GENETICS IN MEDICINE

Points to consider for informed consent for genome/exome sequencing

(2013)   GENETICS IN MEDICINE

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

(2013) Allan J Richards et al.   JOURNAL OF MEDICAL GENETICS

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Hearing impairment in Stickler syndrome: a systematic review

(2012) Frederic R E Acke et al.   Orphanet Journal of Rare Diseases

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

(2011) Stuart Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

(2011) Allan J Richards et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

(2011) M P Snead et al.   EYE

Sequencing technologies and genome sequencing

(2011) Chandra Shekhar Pareek et al.   JOURNAL OF APPLIED GENETICS

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

(2010) Kristien P Hoornaert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

(2010) Allan J. Richards et al.   HUMAN MUTATION

STICKLER'S SYNDROME

(2009) CLAUS EGE NIELSEN   ACTA OPHTHALMOLOGICA

Cleft lip and palate

(2009) Peter A Mossey et al.   LANCET

Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

(2007) Audrey McAlinden et al.   HUMAN MUTATION

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

(2007) Alan Ang et al.   OPHTHALMOLOGY