John Achermann

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University College London

United Kingdom

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Somatic adaptation and sex differences in human endocrine development and disease

Open Date: 2018-02-01

Close Date: 2023-02-01

Articles (19)

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Collaborators (15)

Gerard S Conway

University College London

UNITED KINGDOM

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Delphine Bohl

associate professor (Neuroscience)

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Inma Gonzalez

Institut Pasteur

FRANCE

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Gabriel Livera

Professeur des universités

Université Paris Cité

FRANCE

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Bruno Ferraz-de-Souza

Associate Professor, Basic and Clinical Sciences Domain Chair

The University of Notre Dame Australia

AUSTRALIA

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Caroline EOZENOU

Institut Cochin

FRANCE

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Katrin Koehler

Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden

GERMANY

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Rathi Prasad

Consultant in Paediatric Endocrinology and Honorary Senior Lecturer

UNITED KINGDOM

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Matthew Young

Wellcome Sanger Institute

UNITED KINGDOM

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Karin Straathof

Assistant Professor Tumour Immuno-Oncology

UCL Cancer Institute

UNITED KINGDOM

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Mehul Dattani

University College London

UNITED KINGDOM

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Mars Skae

The University of Manchester

UNITED KINGDOM

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Lou Metherell

Professor of Endocrine Genetics

Queen Mary University of London

UNITED KINGDOM

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Pratik Shah

Honorary Senior Lecturer

Queen Mary University of London

UNITED KINGDOM

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Li Chan

Professor of Molecular Endocrinology and Metabolism/Honorary Consultant in Paediatric Endocrinology

UNITED KINGDOM

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John Achermann

Research Interests

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Recent Grants

Articles (19)

Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution.

Mapping the anatomical and transcriptional landscape of early human fetal ovary development.

Transcriptomic sex differences in early human fetal brain development.

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond

Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.

Characterization of Turner Syndrome-associated diabetes mellitus.

Management of a Girl With Delayed Puberty and Elevated Gonadotropins

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

Single cell derived mRNA signals across human kidney tumors.

Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell.

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.

Collaborators (15)

Gerard S Conway

Delphine Bohl

Inma Gonzalez

Gabriel Livera

Bruno Ferraz-de-Souza

Caroline EOZENOU

Katrin Koehler

Rathi Prasad

Matthew Young

Karin Straathof

Mehul Dattani

Mars Skae

Lou Metherell

Pratik Shah

Li Chan

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