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Karen Lucy Stals
Observed names:
K Stals,
K. L. Stals,
K. Stals,
Karen L Stals,
Karen L. Stals,
Karen Stals,
Stals, Karen,
Stals, Karen L.
show all 8
Institutions:
Royal Devon & Exeter NHS Foundation Trust,
Royal Devon University Healthcare NHS Foundation Trust
Observed institutions:
National Health Service,
University Hospitals Birmingham NHS Foundation Trust,
University of Exeter,
Royal Devon & Exeter NHS Foundation Trust,
Children's Health Ireland at Crumlin,
Royal Devon University Healthcare NHS Foundation Trust,
University of Birmingham
show all 7
ORCID:
0000-0002-3255-7044
Observed ORCID:
0000-0002-3255-7044
OpenAlex ID:
A5005737147
Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene
2007
·
Ewan R Pearson
, Sylvia F Boj
, et al.
·
PLoS Medicine
·
436
PDF
Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort
2014
·
Judit Dénes
, Francesca Swords
, et al.
·
The Journal of Clinical Endocrinology & Metabolism
·
195
PDF
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
2015
·
Laura C. Hernández-Ramírez
, Plamena Gabrovska
, et al.
·
The Journal of Clinical Endocrinology & Metabolism
·
185
PDF
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families
2010
·
Susana Igreja
, Harvinder S. Chahal
, et al.
·
Human Mutation
·
185
PDF
AIPMutation in Pituitary Adenomas in the 18th Century and Today
2011
·
Harvinder S. Chahal
, Karen Stals
, et al.
·
New England Journal of Medicine
·
166
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
2017
·
Janson J. White
, Juliana F. Mazzeu
, et al.
·
The American Journal of Human Genetics
·
114
PDF
Hepatocyte nuclear factor-1 gene deletions--a common cause of renal disease
2007
·
E. L. Edghill
, R. A. Oram
, et al.
·
Nephrology Dialysis Transplantation
·
112
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
2021
·
Francesca Clementina Radio
, Kaifang Pang
, et al.
·
The American Journal of Human Genetics
·
95
PDF
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
2020
·
Pedro Marques
, Francisca Caimari
, et al.
·
The Journal of Clinical Endocrinology & Metabolism
·
80
PDF
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
2017
·
Karen L. Stals
, Matthew Wakeling
, et al.
·
Prenatal Diagnosis
·
77
PDF
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
2020
·
Sara Cuvertino
, Verity Hartill
, et al.
·
Genetics in Medicine
·
72
PDF
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
2011
·
K Guegan
, K Stals
, et al.
·
Clinical Genetics
·
64
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
2014
·
Sian Ellard
, Emma Kivuva
, et al.
·
European Journal of Human Genetics
·
60
PDF
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
2022
·
Vardha Ismail
, Linda G. Zachariassen
, et al.
·
The American Journal of Human Genetics
·
56
PDF
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
2020
·
Adam C. Gunning
, Klaudia Strucinska
, et al.
·
The American Journal of Human Genetics
·
54
PDF
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
2020
·
Scott Barish
, Tahsin Stefan Barakat
, et al.
·
The American Journal of Human Genetics
·
49
Risk category system to identify pituitary adenoma patients with AIP mutations
2018
·
Francisca Caimari
, Laura Cristina Hernández-Ramírez
, et al.
·
Journal of Medical Genetics
·
43
PDF
HNF1B deletions in patients with young‐onset diabetes but no known renal disease
2012
·
E. L. Edghill
, K. Stals
, et al.
·
Diabetic Medicine
·
41
PDF
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
2021
·
William L. Macken
, Annie Godwin
, et al.
·
Genome Medicine
·
37
PDF
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
2018
·
Matthew Neil Wakeling
, Thomas William Laver
, et al.
·
Genetics in Medicine
·
36
PDF
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience
2016
·
Claudia Ramírez-Rentería
, Laura C. Hernández-Ramírez
, et al.
·
Endocrine
·
31
Increased Population Risk ofAIP-Related Acromegaly and Gigantism in Ireland
2016
·
Serban Radian
, Yoan Diekmann
, et al.
·
Human Mutation
·
29
PDF
Expanded phenotype of AARS1-related white matter disease
2021
·
Guy Helman
, Marisa I. Mendes
, et al.
·
Genetics in Medicine
·
27
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy
2018
·
KJ Low
, K Stals
, et al.
·
European Journal of Human Genetics
·
26
PDF
Germline mutations in the CDKN1B gene encoding p27Kip1 are a rare cause of multiple endocrine neoplasia type 1
2008
·
Martina Owens
, Karen Stals
, et al.
·
Clinical Endocrinology
·
26
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Works count:
87
Citation count:
2,678
H-index:
25
I10-index:
42
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