S. Lynch

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

C. Woods, G. Taylor, R. Newbury-Ecob, 2005, Journal of Medical Genetics.

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

S. Scherer, P. Scambler, W. Reardon, 1998, Nature Genetics.

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

R. Regan, J. Conroy, J. Casey, 2012, Molecular genetics and metabolism.

Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

J. Casey, S. Ennis, P. McGettigan, 2012, Journal of Medical Genetics.

The variable phenotypes of KCNQ‐related epilepsy

J. Conroy, M. King, S. Lynch, 2014, Epilepsia.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

P. Scambler, W. Reardon, R. Winter, 2000, American journal of human genetics.

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

J. Conroy, T. Magalhães, S. Ennis, 2016, Epilepsia.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

NAPB – a novel SNARE‐associated protein for early‐onset epileptic encephalopathy

J. Conroy, S. Ennis, M. King, 2016, Clinical genetics.

A novel locus for episodic ataxia:UBR4 the likely candidate

J. Conroy, S. Ennis, P. McGettigan, 2013, European Journal of Human Genetics.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

R. Pfundt, B. D. de Vries, E. Zackai, 2020, Genetics in Medicine.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

D. Cooper, M. Krawczak, A. Clarke, 2000, Human molecular genetics.

First implication of STRA 6 mutations in isolated anophthalmia , microphthalmia and coloboma : a new dimension to the STRA 6 phenotype

R. Regan, J. Conroy, J. Casey, 2014 .

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype

R. Regan, J. Conroy, J. Casey, 2011, Human mutation.

Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic

S. Lynch, S. Lynch, D. Lambert, 2008, Archives of Disease in Childhood.

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

Bethan E. Hoskins, A. Reymond, S. Ellard, 2022, Human molecular genetics.

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype

J. Conroy, S. Ennis, M. King, 2017, Epilepsia.

Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively

I. Craig, S. Lynch, A. Christian, 1997, Human mutation.

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms—A further patient

J. Conroy, S. Ennis, M. King, 2014, American journal of medical genetics. Part A.

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.

R. Regan, J. Conroy, J. Casey, 2012, Molecular genetics and metabolism.