Concepedia

Adeline Ngoh

AN

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Publications

14

Citations

1.4K

H-Index

13

Active since

2014

Affiliations

University College London(Current)

Great Ormond Street Hospital

Great Ormond Street Hospital for Children NHS Foundation Trust

National Institutes of Health

National Hospital for Neurology and Neurosurgery

Adeline Ngoh is an author at University College London specializing in life sciences, neurogenetic disorders, and neurogenetics.

ORCID

Publications per year

2014–2022

14

Publications

14

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text

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Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Natalie Trump, Amy McTague, Helen Brittain et al. · Journal of Medical Genetics · 2016 · 211 citations · Full text

, , +17

Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling

Pavanish Kumar, Amanda Jin Mei Lim, Sharifah Nur Hazirah et al. · Nature Neuroscience · 2022 · 147 citations · Full text

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Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra et al. · Neurology · 2017 · 141 citations · Full text

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