Emma C Bedoukian

12PUBLICATIONS
58CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Cancer diagnosisRespiratory diseasesCardiology (incl. cardiovascular diseases)
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Publications (12)

|Mar 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Sarah E Sheppard, Ian M Campbell, Margaret H Harr

|Jan 14, 2021
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.

Emma C Bedoukian, Stefan Rentas, Cara Skraban

|Dec 28, 2020
Ciliopathies: Coloring outside of the lines.

Alanna Strong, Dong Li, Frank Mentch

|Oct 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.

Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola

|Mar 22, 2020
NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.

Alyssa Ritter, Petra Werner, Brande Latney

|Sep 19, 2019
Clinical utility of exome sequencing in infantile heart failure.

Alyssa Ritter, Emma Bedoukian, Justin H Berger

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Frequent Collaborators

5 joint publications

Alyssa Ritter

3 joint publications

Kosuke Izumi

2 joint publications

Elizabeth Bhoj

2 joint publications

Hakon Hakonarson