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Uruj Anjum
Observed name:
U. Anjum
Institutions:
University College Dublin,
St George's, University of London,
University Hospital of Wales,
St George’s University Hospitals NHS Foundation Trust,
Temple Street Children's University Hospital
Observed institutions:
University College Dublin,
Glan Clwyd Hospital,
St George's Hospital,
St George's, University of London,
University Hospital of Wales,
St George’s University Hospitals NHS Foundation Trust,
Temple Street Children's University Hospital
show all 7
OpenAlex ID:
A5044374116
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
2017
·
Víctor Faundes
, William G. Newman
, et al.
·
The American Journal of Human Genetics
·
275
PDF
Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017
·
Lynette G. Sadleir
, Emily I. Mountier
, et al.
·
Neurology
·
129
PDF
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018
·
Lot Snijders Blok
, Justine Rousseau
, et al.
·
Nature Communications
·
120
PDF
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
2019
·
Anne H. O’Donnell-Luria
, Lynn S. Pais
, et al.
·
The American Journal of Human Genetics
·
93
PDF
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
2019
·
Kathleen M. Gorman
, Esther Meyer
, et al.
·
The American Journal of Human Genetics
·
63
PDF
Clinical manifestations of intermediate allele carriers in Huntington disease
2016
·
Esther Cubo
, María A. Ramos-Arroyo
, et al.
·
Neurology
·
53
Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study
2018
·
Paul McNulty
, Richard Pilcher
, et al.
·
Journal of Huntington s Disease
·
35
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
2016
·
Jeremy F McRae
, Stephen Clayton
, et al.
·
bioRxiv (Cold Spring Harbor Laboratory)
·
30
PDF
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
2019
·
Stuart Aitken
, Helen V. Firth
, et al.
·
The American Journal of Human Genetics
·
10
PDF
Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages
2019
·
Aileen K. Ho
, Mike C. Horton
, et al.
·
Value in Health
·
9
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2019
·
Lot Snijders Blok
, Justine Rousseau
, et al.
·
Nature Communications
·
3
PDF
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)
2019
·
Lot Snijders Blok
, Justine Rousseau
, et al.
·
Newcastle University ePrints (Newcastle Univesity)
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2019
·
Lot Snijders Blok
, Justine Rousseau
, et al.
·
Nature Communications
PDF
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Works count:
13
Citation count:
820
H-index:
9
I10-index:
9
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