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| 36322149 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: AÂ genotype-phenotype correlation study. | Genet Med | 2023 |
| 37632685 | Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic. | J Community Genet | 2023 |
| 37704779 | Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families. | Eur J Hum Genet | 2023 |
| 37638701 | A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy. | Am J Med Genet A | 2023 |
| 35396997 | Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. | Hum Mol Genet | 2023 |
| 37407733 | Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. | Eur J Hum Genet | 2023 |
| 37377026 | Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. | Am J Med Genet A | 2023 |
| 37165752 | POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. | Clin Genet | 2023 |
| 37129290 | Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt. | Am J Med Genet A | 2023 |
| 36503924 | Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link? | Clin Dysmorphol | 2023 |
| 36374302 | An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population. | Eur J Pediatr | 2023 |
| 36177608 | Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype. | Am J Med Genet A | 2023 |
| 34505148 | De novo missense variants in FBXO11 alter its protein expression and subcellular localization. | Hum Mol Genet | 2022 |
| 35410222 | Designing rare disease care pathways in the Republic of Ireland: a co-operative model. | Orphanet J Rare Dis | 2022 |
| 35833929 | Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. | Genet Med | 2022 |
| 35395208 | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. | Am J Hum Genet | 2022 |
| 35853949 | An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature. | Eur J Hum Genet | 2022 |
| 35916866 | De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. | Genet Med | 2022 |
| 35094443 | Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. | Hum Mutat | 2022 |
| 35092693 | Response to treatment and outcomes of infantile spasms in Down syndrome. | Dev Med Child Neurol | 2022 |
| 35001335 | Duplication of referral, a tsunami of paper: how much does it cost the Irish health services? | Ir J Med Sci | 2022 |
| 34532855 | HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family. | Clin Genet | 2022 |
| 33119819 | Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences? | J Community Genet | 2021 |
| 33631419 | 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 Res | 2021 |
| 33578364 | 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 Res | 2021 |
| 34525970 | NRXN1α<sup>+/-</sup> is associated with increased excitability in ASD iPSC-derived neurons. | BMC Neurosci | 2021 |
| 34539735 | The Role of the European Society of Human Genetics in Delivering Genomic Education. | Front Genet | 2021 |
| 34215991 | Fatal fetal abnormality Irish live-born survival-an observational study. | J Community Genet | 2021 |
| 34345025 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. | Genet Med | 2021 |
| 34032352 | Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395GÂ >â¿¿A p.(Glu1799Lys) missense variant. | Am J Med Genet A | 2021 |
| 33955014 | ANKRD11 variants: KBG syndrome and beyond. | Clin Genet | 2021 |
| 34022131 | Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. | Am J Hum Genet | 2021 |
| 33454723 | The genetic landscape of polycystic kidney disease in Ireland. | Eur J Hum Genet | 2021 |
| 33244165 | De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. | Genet Med | 2021 |
| 31316167 | A clinical scoring system for congenital contractural arachnodactyly. | Genet Med | 2020 |
| 31932168 | X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. | Neuromuscul Disord | 2020 |
| 31949313 | A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. | Genet Med | 2020 |
| 33232675 | BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. | Am J Hum Genet | 2020 |
| 33148291 | A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland. | Orphanet J Rare Dis | 2020 |
| 33381478 | Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations. | Front Pediatr | 2020 |
| 32777081 | Integration of genetic and histopathology data in interpretation of kidney disease. | Nephrol Dial Transplant | 2020 |
| 32361877 | Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation. | J Mol Neurosci | 2020 |
| 32203228 | Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. | Genet Med | 2020 |
| 32319732 | Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review. | Am J Med Genet A | 2020 |
| 32483343 | National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years. | Eur J Hum Genet | 2020 |
| 30622329 | Towards establishing consistency in triage in a tertiary specialty. | Eur J Hum Genet | 2019 |
| 31759289 | Derivation of familial iPSC lines from three ASD patients carrying NRXN1α<sup>+/-</sup> 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 Res | 2019 |
| 31721432 | The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. | Am J Med Genet C Semin Med Genet | 2019 |
| 31893021 | Increased Ca<sup>2+</sup> signaling in <i>NRXN1α</i><sup><i>+/-</i></sup> neurons derived from ASD induced pluripotent stem cells. | Mol Autism | 2019 |
| 30031152 | NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. | Eur J Med Genet | 2019 |