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List of works by Emma Bedoukian

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother

scientific article published on 01 May 2018

Ciliopathies: Coloring outside of the lines

scientific article published on 25 December 2020

Clinical utility of exome sequencing in infantile heart failure

scientific article published on 17 September 2019

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

scientific article published on 13 October 2016

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients

scientific article published on 11 October 2020

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

scientific article published on 20 March 2019

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

scientific article published on 04 February 2019

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus

scientific article published on 21 March 2020

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant

scientific article published on 14 January 2021

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

scientific article published on 27 August 2018

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