Sally Ann Lynch

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Ireland

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Recent Grants

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Genetic Counselling and Testing in the Irish Republic: Scoping current practice, international comparisons and recommendations for national practice

Open Date: 2022-01-01

Close Date: 2023-07-01

Grant: Close

First do no harm, re-evaluating cardiac variants in families with a history of long QT or Hypertrophic cardiomyopathy

Open Date: 2019-02-01

Close Date: 2022-01-01

Articles (28)

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Article Link

Year:

2025

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Article Link

Year:

2025

Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic

Article Link

Year:

2025

UBR4 should no longer be considered a candidate gene for episodic ataxia type 8

Article Link

Year:

2025

Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe

Article Link

Year:

2025

Whole Genome Sequencing of “Mutation-Negative” Individuals With Cornelia de Lange Syndrome

Article Link

Year:

2025

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Article Link

Year:

2024

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

Article Link

Year:

2024

A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT)

Article Link

Year:

2024

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

Article Link

Year:

2024

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Article Link

Year:

2024

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance

Article Link

Year:

2024

P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

Article Link

Year:

2024

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Article Link

Year:

2024

‘Werner Syndrome foot’—A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot disease

Article Link

Year:

2024

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

Article Link

Year:

2024

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Article Link

Year:

2023

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

Article Link

Year:

2023

A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.

Article Link

Year:

2023

Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Article Link

Year:

2023

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt

Article Link

Year:

2023

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Article Link

Year:

2023

Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans

Article Link

Year:

2023

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

Article Link

Year:

2023

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Article Link

Year:

2023

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

Article Link

Year:

2023

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

Article Link

Year:

2023

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling

Article Link

Year:

2023

Collaborators (31)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

Rikke S. Møller

the faculty of health sciences university of southern denmark odense denmark

DENMARK

Christiane Zweier

SWITZERLAND

Edward Tobias

University of Glasgow

UNITED KINGDOM

Simon McGowan

University of Oxford

UNITED KINGDOM

Linlea Armstrong

Clinical Associate Professor

The University of British Columbia

CANADA

Nayana Lahiri

Honorary senior lecturer

St George’s, University of London

UNITED KINGDOM

Lara Menzies

Honorary Associate Professor

University College London

UNITED KINGDOM

Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

William Dobyns

Professor

University of Minnesota

UNITED STATES

Ina Knerr

Consultant Metabolic Paediatrician, Clinical Professor

IRELAND

David Sims

Associate Professor of Computational Genomics

University of Oxford

UNITED KINGDOM

Susanne Klute

Universität Ulm

GERMANY

Karen Gripp

Chief

Nemours Children's Health System

UNITED STATES

KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

UNITED KINGDOM

roberta battini

University of Pisa

ITALY

Ann Swillen

Professor

KU Leuven

BELGIUM

George Tofaris

University of Oxford

UNITED KINGDOM

Robert Smigiel

prof.

Wroclaw Medical University

POLAND

Guido Rubboli

Københavns Universitet

DENMARK

Jens Michaelis

Universität Ulm

GERMANY

Konrad Platzer

University Hospital Leipzig

GERMANY

Siddharth Banka

The University of Manchester

UNITED KINGDOM

Cristina Dias

King’s College London

UNITED KINGDOM

Andrew Green

Professor of Medical Genetics

Dublin City University

IRELAND

Andreas Tzschach

University Medical Center Freiburg

GERMANY

Christopher McMaster

Professor

Dalhousie University

CANADA

Konstantin MJ Sparrer

Ulm University

GERMANY

Dimitris Polychronopoulos

Chief Data Officer and co-founder

CureCollect

UNITED KINGDOM

Thomas Smol

FRANCE

Anders Skov Kristensen

Associate professor

University of Copenhagen

DENMARK

Sally Ann Lynch

Research Interests

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Contact this professor

Recent Grants

Articles (28)

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic

UBR4 should no longer be considered a candidate gene for episodic ataxia type 8

Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe

Whole Genome Sequencing of “Mutation-Negative” Individuals With Cornelia de Lange Syndrome

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

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

A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT)

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance

P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

‘Werner Syndrome foot’—A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot disease

Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy.

Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling

Collaborators (31)

Meena Balasubramanian

Rikke S. Møller

Christiane Zweier

Edward Tobias

Simon McGowan

Linlea Armstrong

Nayana Lahiri

Lara Menzies

Manuela Morleo

William Dobyns

Ina Knerr

David Sims

Susanne Klute

Karen Gripp

KATHERINE LACHLAN

roberta battini

Ann Swillen

George Tofaris

Robert Smigiel

Guido Rubboli

Jens Michaelis

Konrad Platzer

Siddharth Banka

Cristina Dias

Andrew Green

Andreas Tzschach

Christopher McMaster

Konstantin MJ Sparrer

Dimitris Polychronopoulos

Thomas Smol

Anders Skov Kristensen

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