Glenda M. Beaman - Concepedia

Author

Glenda M. Beaman

University of Manchester ORCID

Also Known As

G. Beaman, Glenda M. Beaman, Glenda Beaman, Glenda M Beaman, Glenda M. Beaman, Glenda Maria Beaman, Robert Pitceathly

Publications

924

Citations

H-Index

Concepts

All Affiliations

University of Manchester Manchester University NHS Foundation Trust Manchester Academic Health Science Centre Royal Manchester Children's Hospital St Mary's Hospital

About

Glenda M. Beaman is an author at University of Manchester specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	336
2	Engineering	1	1	17
3	Natural Sciences	1	1	54
4	Biostatistics	1	1	17
5	Cellular Physiology	1	1	46

Glenda M. Beaman

Publications

854

Citations

H-Index

Page 1

	Year	Citations
Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease Expression Rebecca C. Robey, Amy Wilcock, Hope Bonin, The Journal of Allergy and Clinical Immunology In Practice Mendelian DisorderGenetic DisorderGeneticsPathogenesisGenetic Epidemiology	2020	111
A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer D. Gareth Evans, Elke M. van Veen, Helen Byers, The American Journal of Human Genetics	2018	92
Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care John McDermott, Ajit Mahaveer, Rachel James, JAMA Pediatrics	2022	80
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders Charlie F Rowlands, Huw B. Thomas, Jenny Lord, Scientific Reports	2021	63
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations Irit Hochberg, Leigh Demain, Julie Richer, The American Journal of Human Genetics GeneticsMolecular BiologyPathologyMolecular GeneticsDisease Gene Identification	2021	54
Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome Rabia Faridi, Atteeq U. Rehman, Robert J. Morell, Clinical Genetics Coincidental Perrault SyndromeRare DiseasesGenome InstabilityMendelian DisorderGenetic Disorder	2016	49
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice Arjan C. Houweling, Glenda M. Beaman, Alex V. Postma, Journal of Clinical Investigation Cardiac MuscleCardiomyopathyDevelopmental BiologyMyocd ResultGenetic Disorder	2019	46
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction Caroline M. Kolvenbach, Gabriel C. Dworschak, Sandra Frese, The American Journal of Human Genetics	2019	44
<scp>DMRTA2</scp> (<scp><i>DMRT5</i></scp>) is mutated in a novel cortical brain malformation Jill Urquhart, Glenda M. Beaman, Helen Byers, Clinical Genetics	2016	34
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development Rong Zhang, Michael Knapp, Kentaro Suzuki, Scientific Reports	2017	34

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