Katherine L. Lachlan

Southampton, ENG SO165YA, United Kingdom

Last Updated: 09/26/2026

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Found 63 publications

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome.

Journal: Disease models & mechanisms

Published: June 20, 2025

Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations.

Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations.

Journal: Neurology. Genetics

Published: April 09, 2025

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.

Journal: Orphanet journal of rare diseases

Published: November 06, 2024

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Journal: American journal of human genetics

Published: August 27, 2024

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability.

Journal: Autism research : official journal of the International Society for Autism Research

Published: August 18, 2024

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Journal: Developmental medicine and child neurology

Published: July 05, 2024

Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study.

Exploring tonsil pathology in PTEN hamartoma syndrome: a cohort study.

Journal: The Journal of laryngology and otology

Published: May 19, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Journal: Nature

Published: April 07, 2024

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 20, 2024

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: December 08, 2023

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

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

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: June 22, 2023

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2023

Showing 1-12 of 63

Last Updated: 09/26/2026