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Declan O’Rourke
Observed names:
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,
Declan John O’Rourke,
Declan O'Rourke
show all 10
Institutions:
University College Dublin,
Temple Street Children's University Hospital
Observed institutions:
University College Dublin,
Boston Children's Hospital,
Harvard University,
Trinity College Dublin,
Lagan Valley Hospital,
Belfast City Hospital,
University Hospital Limerick,
Temple Street Children's University Hospital,
München Klinik,
Neurology, Inc
show all 10
OpenAlex ID:
A5111861744
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
2008
·
Dorien Lugtenberg
, Tjitske Kleefstra
, et al.
·
European Journal of Human Genetics
·
145
PDF
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
2014
·
Veerle RC Eggens
, Peter G Barth
, et al.
·
Orphanet Journal of Rare Diseases
·
89
PDF
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
2022
·
Martin Broly
, Bogdan V. Polevoda
, et al.
·
The American Journal of Human Genetics
·
51
PDF
Neurological involvement in children with hemolytic uremic syndrome
2021
·
Caoimhe Costigan
, Tara Raftery
, et al.
·
European Journal of Pediatrics
·
42
PDF
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
2018
·
Yannay Khaikin
, Sarah Sidky
, et al.
·
European Journal of Paediatric Neurology
·
41
Infant botulism due toC. butyricumtype E toxin: a novel environmental association with pet terrapins
2014
·
E. B. SHELLEY
, D. O'ROURKE
, et al.
·
Epidemiology and Infection
·
37
PDF
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial
2021
·
Richard S. Finkel
, (For the PolarisDMD Study Group)
, et al.
·
Journal of Neuromuscular Diseases
·
32
PDF
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language
2009
·
DECLAN J O’ROURKE
, STEPHANIE RYAN
, et al.
·
Developmental Medicine & Child Neurology
·
29
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome
2012
·
Declan John O’Rourke
, Eilish Twomey
, et al.
·
Clinical Dysmorphology
·
21
Mullerian papilloma–like proliferation arising in cystic pelvic endosalpingiosis
2002
·
W.Glenn McCluggage
, Declan O'Rourke
, et al.
·
Human Pathology
·
19
Response to treatment and outcomes of infantile spasms in Down syndrome
2022
·
Susan Harvey
, Nicholas M. Allen
, et al.
·
Developmental Medicine & Child Neurology
·
17
PDF
Rasmussen's encephalitis presenting as focal cortical dysplasia
2014
·
D.J. O'Rourke
, A. Bergin
, et al.
·
Epilepsy & Behavior Case Reports
·
17
PDF
The Temple Star Transitional Model of Care for epilepsy; the outcome of a quality improvement project
2017
·
Suzanne L. Crowley
, Susan Byrne
, et al.
·
Epilepsy & Behavior
·
15
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies
2017
·
Christelle Moufawad El Achkar
, Beth Rosen Sheidley
, et al.
·
Epilepsy & Behavior Case Reports
·
14
PDF
Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations
2024
·
Sara Nagy
, Alistair T Pagnamenta
, et al.
·
Brain Communications
·
10
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings
2022
·
Alberto A. Zambon
, François Abel
, et al.
·
Neuromuscular Disorders
·
10
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype
2019
·
Niamh Shaughnessy
, Eva B. Forman
, et al.
·
Neuromuscular Disorders
·
9
Excessive Blinking and Ataxia in a Child With Occult Neuroblastoma and Voltage-Gated Potassium Channel Antibodies
2012
·
Nicholas M. Allen
, Andrew McKeon
, et al.
·
PEDIATRICS
·
5
Relationship Between Electroencephalography and Seizure Outcome in Typical Absence Seizures in Children
2023
·
Susan Harvey
, Claire Thompson
, et al.
·
Pediatric Neurology
·
4
Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT ‐related mitochondrial disease
2022
·
Caoimhe Howard
, Arundhati Dev‐Borman
, et al.
·
JIMD Reports
·
4
PDF
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study
2022
·
Erik Landfeldt
, Rongrong Zhang
, et al.
·
Journal of Medical Economics
·
4
Head bobbing due to succinic semialdehyde dehydrogenase deficiency
2010
·
Declan J. O'Rourke
, Stephanie Ryan
, et al.
·
Neurology
·
4
PDF
Benign intracranial hypertension associated with inhaled corticosteroids in a child with asthma
2021
·
James Trayer
, Declan O'Rourke
, et al.
·
BMJ Case Reports
·
2
Iron deficiency anaemia and childhood stroke.
2008
·
D O'Rourke
, R McCarthy
, et al.
·
PubMed
·
2
Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort
2025
·
Susan Harvey
, Nicholas M. Allen
, et al.
·
European Journal of Paediatric Neurology
·
1
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Works count:
34
Citation count:
627
H-index:
14
I10-index:
16
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