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Helen Stewart

4PUBLICATIONS

21CO-AUTHORS

Developmental genetics (incl. sex determination)Transport properties and non-equilibrium processesEpigenetics (incl. genome methylation and epigenomics)

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Publications (4)

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|Mar 02, 2023

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

Katharine Edgerley, Lisa Bryson, Lucy Hanington

|Jun 01, 2021

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

Adam Jackson, Siddharth Banka, Helen Stewart

|Oct 12, 2020

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski

|Aug 11, 2019

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday

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Frequent Collaborators

2 joint publications

Karen Low

1 joint publications

Deepika D'Cunha Burkardt

1 joint publications

Laurence Faivre

1 joint publications

Guillermo Lay-Son

1 joint publications

Ho-Ming Luk

1 joint publications

John Pappas

1 joint publications

Rosanna Weksberg

1 joint publications

Yuri A Zarate

1 joint publications

Katrina Tatton-Brown

1 joint publications

Stefano Giuseppe Caraffi

Frequent Collaborators

2 joint publications

Karen Low

1 joint publications

Deepika D'Cunha Burkardt

1 joint publications

Laurence Faivre

1 joint publications

Guillermo Lay-Son

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