Dora Steel - Concepedia

Author

Dora Steel

Also Known As

D. Steel, DORA STEEL, Dora B.D. Steel, Dora Batia Dyne Steel, Dora Steel, H. Serap Sivri, Joaquín Alejandro Fernández Ramos

Publications

Citations

H-Index

Concepts

All Affiliations

University College London Great Ormond Street Hospital National Hospital for Neurology and Neurosurgery Assistance Publique – Hôpitaux de Paris Hôpital Armand-Trousseau

About

Dora Steel is an author at University College London specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	265
2	Social Sciences	2	2	106
3	Anesthesia	1	1	14
4	Child Development	1	1	24
5	Molecular Genetics	1	1	45

Dora Steel

Publications

627

Citations

H-Index

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	Year	Citations
Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities Dora Steel, Michael Zech, Chen Zhao, Annals of Neurology	2020	106
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Laura Cif, Diane Demailly, Jean‐Pierre Lin, Brain	2020	94
<scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Toni S. Pearson, Laura Gilbert, Thomas Opladen, Journal of Inherited Metabolic Disease NeuropsychologyMotor ImpairmentMotor DevelopmentSleep DisturbanceNeuropsychiatry	2020	82
Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp> Thomas Wirth, Giacomo Garone, Manju A. Kurian, Movement Disorders	2022	58
<i>KIF1A</i>‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement Tarishi Nemani, Dora Steel, Marios Kaliakatsos, Journal of the Peripheral Nervous System	2020	55
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila Lindsey D. Goodman, Heidi Cope, Zelha Nil, The American Journal of Human Genetics Developmental BiologyMolecular NeuroscienceHuman Developmental DelaysDevelopmental GeneticsGenetics	2021	45
Complex movement disorder in a patient with heterozygous <scp>YY1</scp> mutation (Gabriele‐de Vries syndrome) Maria Teresa Carminho‐Rodrigues, Dora Steel, Sérgio B. Sousa, American Journal of Medical Genetics Part A Neurological DisorderGeneticsGabriele‐de Vries SyndromePathologyDisease Gene Identification	2020	34
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome Dora Steel, Vincenzo Salpietro, Rahul Phadke, Journal of Genetics Developmental BiologyGenetic DisorderMedicineGeneticsMild Developmental Delay	2015	33
Bi-allelic variants in INTS11 are associated with a complex neurological disorder Burak Tepe, Erica L. Macke, Marcello Niceta, The American Journal of Human Genetics Allelic VariantAutoimmune DiseaseGenetic DisorderGeneticsBi-allelic Variants	2023	33
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood Sara Zagaglia, Dora Steel, S. Krithika, Neurology	2021	27

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