Emily Cottrell (E Cottrell)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Topics

Preterm Infants

Top Venues

The Journal of clinical endocrinology and metabolism

European journal of endocrinology

Nature genetics

Journal of endocrinological investigation

This page only lists publications with an associated author ORCID identifier.

Publications

Afiya Andrews, Emily Cottrell, Avinaash V Maharaj, Tasneem Ladha, Jack L Williams, Katharina Schilbach, Lena R Kaisinger, John R B Perry, Louise A Metherell, Peter J McCormick, Helen L Storr
Characterisation of dominant-negative GH receptor variants reveals a potential therapeutic target for short stature. European journal of endocrinology (2023)
Junhua Zhou, Elena Aisha Binti Azizan, Claudia P Cabrera, Fabio L Fernandes-Rosa, Sheerazed Boulkroun, Giulia Argentesi, Emily Cottrell, Laurence Amar, Xilin Wu, Samuel M O'Toole, Emily Goodchild, Alison Marker, Russell Senanayake, Sumedha Garg, Tobias Åkerström, Samuel Backman, Suzanne Jordan, Satyamaanasa Polubothu, Daniel M Berney, Anna Gluck, Kate E Lines, Rajesh V Thakker, Antoinette Tuthill, Caroline Joyce, Juan Pablo Pablo Kaski, Fiona E Karet Frankl, Louise A Metherell, Ada Ee Der Teo, Mark Gurnell, Laila Parvanta, William M Drake, Eva Wozniak, David Klinzing, Jyn Ling Kuan, Zenia Tiang, Celso E Gomez Sanchez, Per Hellman, Roger Sik Yin Foo, Charles A Mein, Veronica A Kinsler, Peyman Björklund, Helen L Storr, Maria-Christina Zennaro, Morris J Brown
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature genetics 53 (9) (2021)
Emily Cottrell, Avinaash V Maharaj, Jack L Williams, Sumana Chatterjee, Grazia Cirillo, Emanuele Miraglia Del Giudice, Adalgisa Festa, Stefania Palumbo, Donatella Capalbo, Maria Carolina Salerno, Claudio Pignata, Martin O. Savage, Katharina Schilbach, Martin Bidlingmaier, Vivian Hwa, Louise A Metherell, Anna Grandone, Helen L Storr
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity. The Journal of clinical endocrinology and metabolism (2021)
Afiya Andrews, Avinaash V Maharaj, Emily Cottrell, Sumana Chatterjee, Prateek Shanmugananda, Louise Denvir, Katja Dumic, Artur Bossowski, Talat Mushtaq, Rade Vukovic, Mohamed Didi, Nick Shaw, Louise A Metherell, Martin O. Savage, Helen L Storr
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. The Journal of clinical endocrinology and metabolism 106 (11) (2021)
Emily Cottrell, Avinaash V Maharaj, Jack L Williams, Sumana Chatterjee, Grazia Cirillo, Emanuele Miraglia Del Giudice, Adalgisa Festa, Stefania Palumbo, Donatella Capalbo, Maria Carolina Salerno, Claudio Pignata, Martin O. Savage, Katharina Schilbach, Martin Bidlingmaier, Vivian Hwa, Louise A Metherell, Anna Grandone, Helen L Storr
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi). The Journal of clinical endocrinology and metabolism (2021)
Emily Cottrell, Tasneem Ladha, Hanna Borysewicz-Sańczyk, Beata Sawicka, Martin O. Savage, Artur Tadeusz Bossowski, Helen L Storr
The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome. Journal of endocrinological investigation 44 (6) (2020)