A. Ronan

发表

Randomised controlled comparison of single-dose ciprofloxacin and doxycycline for cholera caused by Vibrio cholerae O1 or O139

M. Bennish, W. Khan, C. Seas, 1996, The Lancet.

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

R. Scott, G. Baynam, B. Kamien, 2018, Molecular Syndromology.

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

S. Aftimos, A. Slavotinek, J. Moeschler, 2009, Journal of Medical Genetics.

Diagnosis of Pneumonia in Children with Dehydrating Diarrhoea

W. Khan, D. Saha, M. Salam, 2014, Journal of health, population, and nutrition.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

I. Scheffer, F. McKenzie, J. Mulley, 2011, Neurology.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion

A. Ronan, K. Buiting, T. Dudding, 2008, American journal of medical genetics. Part A.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

M. Cowley, M. Dinger, A. Minoche, 2022, European Journal of Human Genetics.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, Molecular Neurobiology.

Fatal renal failure caused by diethylene glycol in paracetamol elixir: the Bangladesh epidemic

M. Bennish, A. Ronan, M. Hanif, 1995, BMJ.

An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia.

S. Robertson, A. Zankl, D. Markie, 2020, The Journal of clinical endocrinology and metabolism.

Somatic‐gonadal mosaicism causing Sotos syndrome

R. Scott, C. Meldrum, B. Kamien, 2016, American journal of medical genetics. Part A.

Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease

A. Ronan, A. Ingrey, P. Chee, 2017, American journal of medical genetics. Part A.

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

A. Ronan, Stéphanie Maupetit-Méhouas, C. Reynès, 2010, Journal of Medical Genetics.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

Genetic Basis of Childhood Cardiomyopathy

R. Weintraub, C. Semsarian, J. Ingles, 2022, Circulation. Genomic and precision medicine.

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

N. Nowak, J. Conroy, G. Turner, 2009, BMJ Case Reports.

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

N. Nowak, J. Conroy, G. Turner, 2007, Journal of Medical Genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

Marcel E Dinger, Diane Fatkin, Christopher Semsarian, 2018, Journal of the American College of Cardiology.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Shashidhar Pai, Ian Glass, Louise Izatt, 2012, Journal of Medical Genetics.

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Z. Tümer, K. Brøndum‐Nielsen, A. Ronan, 2011, American journal of medical genetics. Part A.

Hyperglycemia during childhood diarrhea.

M. Bennish, A. Azad, A. Ronan, 1997, The Journal of pediatrics.

Improvement in epistaxis management: the experience of a dedicated hereditary haemorrhagic telangiectasia clinic

A. Ronan, T. Low, Johnson Huang, 2021, ANZ journal of surgery.

The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.

Philippe M. Campeau, N. Graf, A. Ronan, 2017, European journal of medical genetics.

Cerebrospinal fluid shunt infections in children.

A. Ronan, G. Klug, G. Hogg, 1995, The Pediatric infectious disease journal.

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Robert W. Taylor, Y. Crow, T. Roscioli, 2019, Neuropediatrics.

Co-occurrence of cadasil and a parkinsonian syndrome: a report of two cases and review of the literature

A. Ronan, J. Blackie, E. Sugo, 2017, Journal of Neurology, Neurosurgery & Psychiatry.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

A. Hoischen, S. Antonarakis, B. Menten, 2012, Molecular Neurobiology.