Declan O’Rourke - Concepedia

Author

Declan O’Rourke

Temple Street Children's University Hospital

Also Known As

D J O'Rourke, D O'Rourke, D. J. O'Rourke, D. O'ROURKE, D. O'Rourke, D. O'rourke, D.J. O'Rourke, DECLAN J O’ROURKE, Declan J O'Rourke, Declan J. O'Rourke

Publications

711

Citations

H-Index

Concepts

All Affiliations

Temple Street Children's University Hospital Children's Health Ireland at Crumlin University College Dublin Our Lady's Hospital Inserm

About

Declan O’Rourke is an author at Temple Street Children's University Hospital specializing in medicine, neuropathology, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	312
2	Public Health	1	1	34
3	Social Sciences	1	1	21
4	Epidemiology	1	1	34
5	Family Medicine	1	1	14

Declan O’Rourke

Publications

544

Citations

H-Index

Page 1

	Year	Citations
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker, European Journal of Human Genetics Structural VariationMecp2 DuplicationsMendelian DisorderSevere EncephalopathyMedicine	2008	148
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Orphanet Journal of Rare Diseases	2014	88
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Martin Broly, Bogdan Polevoda, Kamel Awayda, The American Journal of Human Genetics Trna AcetylationDevelopmental BiologySyndromic Neurodevelopmental DisorderThumpd1 Bi-allelic VariantsGenetic Disorder	2022	43
Infant botulism due to<i>C. butyricum</i>type E toxin: a novel environmental association with pet terrapins Emer Shelley, Declan O’Rourke, Kathie Grant, Epidemiology and Infection	2014	35
Neurological involvement in children with hemolytic uremic syndrome Caoimhe Costigan, Tara Raftery, Anne G. Carroll, European Journal of Pediatrics Neurological DisorderClinical NeurologyPediatric EpidemiologyHematologyClinical Epidemiology	2021	34
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study Yannay Khaikin, Sarah Sidky, José E. Abdenur, European Journal of Paediatric Neurology Guanidinoacetate Methyltransferase DeficiencyTreatment OutcomeInherited Metabolic DiseaseGenetic EpidemiologyTwenty-two Patients	2018	33
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language Declan O’Rourke, Stephanie Ryan, Gajja S. Salomons, Developmental Medicine & Child Neurology	2009	28
Veterinary pharmacovigilance in Europe: a survey of veterinary practitioners Nancy De Briyne, Raquel Gopal, Gillian Diesel, Veterinary Record Open	2017	23
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome Declan O’Rourke, Eilish Twomey, Sally Ann Lynch, Clinical Dysmorphology Developmental AnomalyLiterary HistoryLiterary TheoryMendelian DisorderLiterary Criticism	2012	21
Mullerian papilloma–like proliferation arising in cystic pelvic endosalpingiosis W. Glenn McCluggage, Declan O’Rourke, Clodagh McElhenney, Human Pathology Cystic Pelvic EndosalpingiosisTumoral PathologyGynecological SurgerySurgical PathologyHistopathology	2002	19

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