Louise A Metherell (Lou Metherell, Lou A Metherell, L A Metherell, Louise Metherell)

ResearcherID Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 20

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Top Venues

International journal of molecular sciences

European journal of endocrinology

Journal of the Endocrine Society

The Journal of clinical endocrinology and metabolism

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

Publications

Jack L Williams, Chris Smith, Charlotte Hall, Zakaa Khaled, Avinaash Maharaj, Ruth Kwong, James Pittaway, Josefina Casas, Laila Parvanta, Tarek Ezzat Abdel-Aziz, Fausto Palazzo, Teng-Teng Chung, Leonardo Guasti, Louise A Metherell, Rathi Prasad
Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma. European journal of endocrinology 188 (1) (2023)
Madeleine Corkery-Hayward, Louise A Metherell
Adrenal Dysfunction in Mitochondrial Diseases. International journal of molecular sciences 24 (2) (2023)
Madeleine Corkery-Hayward, Louise A Metherell
Adrenal Dysfunction in Mitochondrial Diseases. International journal of molecular sciences 24 (2) (2023)
E Kidd, Eirini Meimaridou, Jack L Williams, Louise A Metherell, Andrew J Walley, U L Fairbrother
Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates. Preparative biochemistry & biotechnology (2023)
Madeleine Corkery-Hayward, Louise A Metherell
Adrenal Dysfunction in Mitochondrial Diseases. International journal of molecular sciences 24 (2) (2023)
Madeleine Corkery-Hayward, Louise A Metherell
Adrenal Dysfunction in Mitochondrial Diseases. International journal of molecular sciences 24 (2) (2023)
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)
Jack L Williams, Chris Smith, Charlotte Hall, Zakaa Khaled, Avinaash Maharaj, Ruth Kwong, James Pittaway, Josefina Casas, Laila Parvanta, Tarek Ezzat Abdel-Aziz, Fausto Palazzo, Teng-Teng Chung, Leonardo Guasti, Louise A Metherell, Rathi Prasad
Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma. European journal of endocrinology 188 (1) (2023)
Jack L Williams, Chris Smith, Charlotte Hall, Zakaa Khaled, Avinaash Maharaj, Ruth Kwong, James Pittaway, Josefina Casas, Laila Parvanta, Tarek Ezzat Abdel-Aziz, Fausto Palazzo, Teng-Teng Chung, Leonardo Guasti, Louise A Metherell, Rathi Prasad
Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma. European journal of endocrinology 188 (1) (2023)
Avinaash V Maharaj, Tülay Güran, Federica Buonocore, John C Achermann, Louise A Metherell, Rathi Prasad, Semra Cetinkaya
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency. Journal of the Endocrine Society 6 (5) (2022)
Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise A Metherell, Rathi Prasad
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. Endocrine connections 11 (8) (2022)
Federica Buonocore, Avinaash V Maharaj, Younus Qamar, Katrin Koehler, Jenifer P Suntharalingham, Li F Chan, Bruno Ferraz-de-Souza, Claire R Hughes, Lin Lin, Rathi Prasad, Jeremy Allgrove, Edward Thomas Andrews, Charles R Buchanan, Timothy D Cheetham, Elizabeth C Crowne, Justin Huw Davies, John W Gregory, Peter C Hindmarsh, Tony Hulse, Nils P Krone, Prateek Shanmugananda, Mohamad Guftar Shaikh, Catherine Roberts, Peter Ellis Clayton, Mehul Tulsidas Dattani, N Simon Thomas, Angela Huebner, Adrian J L Clark, Louise A Metherell, John C Achermann
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK. Journal of the Endocrine Society 5 (8) (2021)
Nadia Farooqi, Louise A Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M Nouel Saied, Yasir Ali, Hamed A El-Serehy, Fazal Jalil, Suzanne M Leal
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. Genes 12 (12) (2021)
Jack L Williams, Charlotte L Hall, Eirini Meimaridou, Louise A Metherell
Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts. International journal of molecular sciences 22 (11) (2021)
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)
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)
Jack L Williams, Anju Paudyal, Sherine Awad, James Nicholson, Dominika Grzesik, Joaquín Botta, Eirini Meimaridou, Avinaash V Maharaj, Michelle Stewart, Andrew Tinker, Roger D Cox, Louise A Metherell
Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not. Life science alliance 3 (4) (2020)
Avinaash V Maharaj, Federica Buonocore, Eirini Meimaridou, Gerard Ruiz-Babot, Leonardo Guasti, Hwei-Ming Peng, Cameron P Capper, Neikelyn Burgos-Tirado, Rathi Prasad, Claire R Hughes, Ashwini Maudhoo, Elizabeth C Crowne, Timothy D Cheetham, Caroline E Brain, Jenifer P Suntharalingham, Niccolò Striglioni, Bilgin Yuksel, Fatih Gurbuz, Sangay Gupta, Robert S Lindsay, Robert Couch, Helen A Spoudeas, Tülay Güran, Stephanie R Johnson, Dallas J Fowler, Louise S Conwell, Aideen M McInerney-Leo, Delphine Drui, Bertrand Cariou, Juan Pedro López-Siguero, Mark Harris, Emma L Duncan, Peter C Hindmarsh, Richard J Auchus, Malcolm D Donaldson, John C Achermann, Louise A Metherell
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. Journal of the Endocrine Society 3 (1) (2018)
Jürgen Klammt, David Neumann, Evelien F Gevers, Shayne F Andrew, I David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A Metherell, Ron G Rosenfeld, Roland Pfäffle, Mehul Tulsidas Dattani, Andrew Dauber, Vivian Hwa
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nature communications 9 (1) (2018)