Helen Stewart
4PUBLICATIONS
21CO-AUTHORS
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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
