KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

United Kingdom

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Katherine Lachlan is an Honorary Senior Clinical Lecturer at the University of Southampton, UK. Her research primarily focuses on the clinical and genetic characteristics of neurodevelopmental genetic syndromes, particularly those related to PTEN hamartoma syndrome and NR5A1/SF-1 variants. Recent publications include studies on tonsil pathology and novel genetic variants associated with atypical sexual development and aniridia, contributing significant insights into these rare conditions.

Articles (20)

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2024

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2021

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2021

Collaborators (17)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

KATHERINE LACHLAN

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Articles (20)

Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Exploring Tonsil Pathology in PTEN Hamartoma Syndrome: A Cohort Study.

Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study

Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes

Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Gonadectomy in conditions affecting sex development: a registry-based cohort study.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

Gonadectomy in conditions affecting sex development: a registry-based cohort study

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Collaborators (17)

Meena Balasubramanian

Odile Christin Gaisl

Christiane Zweier

Edward Tobias

Simon McGowan

Hedi L. Claahsen - van der Grinten

Nayana Lahiri

Sally Ann Lynch

Tom Fowler

Thomas Frazier

Jeremy Tomlinson

Sabine Elisabeth Hannema

Marek Niedziela

Siddharth Banka

Eduardo Calpena

Dimitris Polychronopoulos

Emilio García-García

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