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Emily Cottrell

Observed names: Cottrell E, E. Cottrell, Emily Cottrell-Jane
ORCID: 0000-0001-6773-6547
Observed ORCID: 0000-0001-6773-6547
OpenAlex ID: A5042597597
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
2021 · Junhua Zhou, Elena A. B. Azizan, et al. · Nature Genetics · 90
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Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
2021 · Afiya Andrews, Avinaash Maharaj, et al. · The Journal of Clinical Endocrinology & Metabolism · 20
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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome
2024 · Avinaash V. Maharaj, Emily Cottrell, et al. · JCI Insight · 10
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Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity
2021 · Emily Cottrell, Avinaash Maharaj, et al. · The Journal of Clinical Endocrinology & Metabolism · 9
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity
2020 · Emily Cottrell, Claudia P Cabrera, et al. · European Journal of Endocrinology · 8
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The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome
2020 · E. Cottrell, T. Ladha, et al. · Journal of Endocrinological Investigation · 6
GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients
2020 · Sumana Chatterjee, Emily Cottrell, et al. · Endocrine Connections · 5
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Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature
2023 · Afiya Andrews, Emily Cottrell, et al. · European Journal of Endocrinology · 3
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes
2022 · Andrews A, Maharaj A, et al. · Yearbook of pediatric endocrinology · 2
Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity
2021 · Emily Cottrell, Avinaash Maharaj, et al. · Endocrine Abstracts · 1
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
2021 · Junhua Zhou, Sheerazed Boulkroun, et al. · Journal of the Endocrine Society · 1
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Bloom Syndrome in 7-Year-Old Girl Diagnosed with Short Stature
2019 · Hanna Borysewicz-Sańczyk, Beata Sawicka, et al. · 58th Annual ESPE Meeting (ESPE 2019) · 1
Novel dominant negative GH receptor variants provide important insights into GH receptor physiology
2021 · Afiya Andrews, Emily Cottrell, et al. · Endocrine Abstracts
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
2021 · Giulia Argentesi, Elena Azizan, et al. · Endocrine Abstracts
A rare heterozygous IGFI variant causing postnatal growth failure and offering novel insights into IGF-I physiology
2021 · Emily Cottrell, Sumana Chatterjee, et al. · Endocrine Abstracts
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
2021 · Elena A B Azizan, Junhua Zhou, et al. · Journal of the Endocrine Society
Novel LZTR1 mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH in vitro
2021 · Sumana Chatterjee, Bertola Debora Romeo, et al. · Queen Mary Research Online (Queen Mary University of London)
SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause
2020 · Junhua Zhou, Claudia P Cabrera, et al. · Journal of the Endocrine Society
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Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity
2019 · Emily Cottrell, Avinaash Maharaj, et al. · Endocrine Abstracts
Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway
2019 · Sumana Chatterjee, Debora Bertola, et al. · Endocrine Abstracts
Novel genetic defects in a cohort of Silver-Russell Syndrome (SRS) and SRS-like patients
2019 · Emily Cottrell, Miho Ishida, et al. · Endocrine Abstracts
Double somatic mutations of CTNNB1 and GNA11 in aldosterone producing adenomas (APAs) presenting in puberty, pregnancy or menopause
2019 · Junhua Zhou, Helen Storr, et al. · Endocrine Abstracts
Growth hormone therapy in a child with severe short stature due to Miller-McKusick-Malvaux (3M) syndrome-2
2019 · Sumudu Seneviratne, Deepthi de Silva, et al. · Bone Abstracts
GHR Transcript Heterogeneity May Explain the Phenotypic Variability in Patients with Homozygous GHR Pseudoexon (6ψ) Mutation
2019 · Sumana Chatterjee, Steven J. Rose, et al. · 58th Annual ESPE Meeting (ESPE 2019)
A second GH Receptor pseudoexon mutation causing frameshift and severe postnatal growth failure
2018 · Emily Cottrell, Avinaash Maharaj, et al. · Endocrine Abstracts
Works count: 37
Citation count: 155
H-index: 6
I10-index: 3
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