Sally Ann Lynch

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Ireland

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Professors in Ireland Professors in Biostatistics Biostatistics professors in Ireland

Recent Grants

Grant: Close

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)

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Collaborators (31)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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Rikke S. Møller

the faculty of health sciences university of southern denmark odense denmark

DENMARK

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Christiane Zweier

SWITZERLAND

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Edward Tobias

University of Glasgow

UNITED KINGDOM

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Simon McGowan

University of Oxford

UNITED KINGDOM

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Linlea Armstrong

Clinical Associate Professor

The University of British Columbia

CANADA

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Nayana Lahiri

Honorary senior lecturer

St George’s, University of London

UNITED KINGDOM

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Lara Menzies

Honorary Associate Professor

University College London

UNITED KINGDOM

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Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

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William Dobyns

Professor

University of Minnesota

UNITED STATES

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Ina Knerr

Consultant Metabolic Paediatrician, Clinical Professor

IRELAND

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David Sims

Associate Professor of Computational Genomics

University of Oxford

UNITED KINGDOM

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Susanne Klute

Universität Ulm

GERMANY

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Karen Gripp

Chief

Nemours Children's Health System

UNITED STATES

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KATHERINE LACHLAN

Honorary Senior Clinical Lecturer

University of Southampton

UNITED KINGDOM

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roberta battini

University of Pisa

ITALY

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Ann Swillen

Professor

KU Leuven

BELGIUM

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George Tofaris

University of Oxford

UNITED KINGDOM

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Robert Smigiel

prof.

Wroclaw Medical University

POLAND

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Guido Rubboli

Københavns Universitet

DENMARK

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Jens Michaelis

Universität Ulm

GERMANY

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Konrad Platzer

University Hospital Leipzig

GERMANY

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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Cristina Dias

King’s College London

UNITED KINGDOM

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Andrew Green

Professor of Medical Genetics

Dublin City University

IRELAND

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Andreas Tzschach

University Medical Center Freiburg

GERMANY

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Christopher McMaster

Professor

Dalhousie University

CANADA

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Konstantin MJ Sparrer

Ulm University

GERMANY

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Dimitris Polychronopoulos

Chief Data Officer and co-founder

CureCollect

UNITED KINGDOM

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Thomas Smol

FRANCE

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Anders Skov Kristensen

Associate professor

University of Copenhagen

DENMARK

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Sally Ann Lynch

Research Interests

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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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