Concepedia

Simon Williams

SW

Statistics

Publications

19

Citations

1.3K

H-Index

15

Active since

1982

Affiliations

Princess Margaret Hospital for Children(Current)

The University of Melbourne

Curtin University

The Kids Research Institute Australia

The University of Western Australia

Simon Williams is an author at Princess Margaret Hospital for Children specializing in genetics, medicine, and human genetics.

Publications per year

1982–2023

19

Publications

19

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Stephanie Fehr, Meredith Wilson, Jenny Downs et al. · European Journal of Human Genetics · 2012 · 314 citations

Medicine, Neurology, Neuroscience +7

Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score

Marco Carbone, Alessandra Nardi, Steve Flack et al. · The Lancet. Gastroenterology & hepatology · 2018 · 163 citations · Full text

Medicine, Internal Medicine, Hepatology +9

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara et al. · Nature Genetics · 2013 · 116 citations · Full text

Life Sciences, Genetics, Neuroscience +12

There is variability in the attainment of developmental milestones in the CDKL5 disorder

Stephanie Fehr, Helen Leonard, Gladys Ho et al. · Journal of Neurodevelopmental Disorders · 2015 · 105 citations · Full text

Life Sciences, Genetics, Human Development +17

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Stephanie Fehr, Kingsley Wong, Richard Chin et al. · Neurology · 2016 · 105 citations · Full text

Life Sciences, Genetics, Neurology +16

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