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Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

Epilepsia (Copenhagen), 2016-01, Vol.57 (1), p.e12-e17

2016

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The variable phenotypes of KCNQ‐related epilepsy

Epilepsia (Copenhagen), 2014-09, Vol.55 (9), p.e99-e105

2014

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Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

American journal of human genetics, 2008-04, Vol.82 (4), p.959-970

2008

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NRXN1α +/- is associated with increased excitability in ASD iPSC-derived neurons

BMC neuroscience, 2021-09, Vol.22 (1), p.56-56, Article 56

2021

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Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

Journal of human genetics, 2016-08, Vol.61 (8), p.761-764

2016

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Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)

Stem cell research, 2021-05, Vol.53, p.102254-102254, Article 102254

2021

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Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

Stem cell research, 2021-04, Vol.52, p.102222-102222, Article 102222

2021

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Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/− and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B)

Stem cell research, 2019-12, Vol.41, p.101653-101653, Article 101653

2019

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Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells

Molecular autism, 2019-12, Vol.10 (1), p.1-52, Article 52

2019

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Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

European journal of human genetics : EJHG, 2023-09, Vol.31 (9), p.1040-1047

2023

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

European journal of human genetics : EJHG, 2023-12, Vol.31 (12), p.1421-1429

2023

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Response to treatment and outcomes of infantile spasms in Down syndrome

Developmental medicine and child neurology, 2022-06, Vol.64 (6), p.780-788

2022

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

Nature genetics, 1998-12, Vol.20 (4), p.358-361

1998

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NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

European journal of medical genetics, 2019-03, Vol.62 (3), p.204-209

2019

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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Human mutation, 2022-04, Vol.43 (4), p.461-470

2022

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Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1637-1654

2020

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

Epilepsia (Copenhagen), 2017-07, Vol.58 (7), p.1301-1302

2017

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Towards the identification of a genetic basis for Landau‐Kleffner syndrome

Epilepsia (Copenhagen), 2014-06, Vol.55 (6), p.858-865

2014

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

Clinical genetics, 2023-08, Vol.104 (2), p.186-197

2023

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Adults with Down's syndrome: the prevalence of complications and health care in the community

British journal of general practice, 2007-01, Vol.57 (534), p.50-55

2007

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Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.210-217

2015

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Non‐syndromic bilateral ulnar aplasia with humero‐radial synostosis and oligo‐ectro‐dactyly

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1180-1183

2018

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Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion

Clinical dysmorphology, 2017-07, Vol.26 (3), p.181-184

2017

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Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

European journal of paediatric neurology, 2015-07, Vol.19 (4), p.390-394

2015

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Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

The variable phenotypes of KCNQ‐related epilepsy

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

NRXN1α +/- is associated with increased excitability in ASD iPSC-derived neurons

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)

Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/− and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B)

Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

Response to treatment and outcomes of infantile spasms in Down syndrome

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

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

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

Towards the identification of a genetic basis for Landau‐Kleffner syndrome

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

Adults with Down's syndrome: the prevalence of complications and health care in the community

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

Non‐syndromic bilateral ulnar aplasia with humero‐radial synostosis and oligo‐ectro‐dactyly

Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion

Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

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