The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

(2015) Nuria C. Bramswig et al.   HUMAN GENETICS

The Genetic Evolution of Melanoma from Precursor Lesions

(2015) A. Hunter Shain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome

(2014) Samantha S. Vergano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Numerous BAF complex genes are mutated in Coffin-Siris syndrome

(2014) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

TheARID1Bphenotype: What we have learned so far

(2014) Gijs W.E. Santen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Phenotype and genotype in Nicolaides-Baraitser syndrome

(2014) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

(2014) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Dysmorphology at a distance: results of a web-based diagnostic service

(2013) S Douzgou et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

(2013) Dagmar Wieczorek et al.   HUMAN MOLECULAR GENETICS

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

SWI/SNF complex in disorder

(2012) Gijs W.E. Santen et al.   Epigenetics

Nicolaides-Baraitser syndrome: Delineation of the phenotype

(2009) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A