Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

Catherine S. Y. Choong · SciRah

Researcher profile · Semantic Scholar

Catherine S. Y. Choong

Share profile

Catherine S. Y. Choong — researcher profile on SciRah

h-index: 26
Works: 63
Citations: 2,874

Most-cited papers

Reduced androgen receptor gene expression with first exon CAG repeat expansion.
Catherine S. Y. Choong, Jon A. Kemppainen, Z. Zhou, Elizabeth M. Wilson
1996Molecular Endocrinology327 citations Open access
Semantic Scholar
Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation
G. Trivellin, A. Daly, F. Faucz, Bo Yuan +47 more
2014New England Journal of Medicine315 citations Open access
Semantic Scholar
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S. Eggers, S. Sadedin, J. van den Bergen, G. Robevska +69 more
2016Genome Biology299 citations Open access
Semantic Scholar
A potential autocrine role for vascular endothelial growth factor in prostate cancer.
Michael W. Jackson, James Roberts, S. E. Heckford, C. Ricciardelli +4 more
2002Cancer Research187 citations
Semantic Scholar
Clinical and Genetic Characterization of Pituitary Gigantism: An International Collaborative Study in 208 Patients
L. Rostomyan, A. Daly, P. Pétrossians, E. Nachev +48 more
2015Endocrine-Related Cancer162 citations Open access
Semantic Scholar
X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses
A. Beckers, M. Lodish, G. Trivellin, L. Rostomyan +43 more
2015Endocrine-Related Cancer152 citations Open access
Semantic Scholar
Germ-line and somatic DICER1 mutations in pineoblastoma
L. de Kock, N. Sabbaghian, Harriet Druker, Evan Weber +20 more
2014Acta Neuropathologica151 citations Open access
Semantic Scholar
Trinucleotide repeats in the human androgen receptor: a molecular basis for disease.
Catherine S. Y. Choong, Elizabeth M. Wilson
1998Journal of Molecular Endocrinology140 citations Open access
Semantic Scholar
An evaluation of competitor type and size for use in the determination of mRNA by competitive PCR.
R. Mcculloch, Catherine S. Y. Choong, D. M. Hurley
1995PCR methods and applications123 citations Open access
Semantic Scholar
Evolution of the Primate Androgen Receptor: A Structural Basis for Disease
Catherine S. Y. Choong, Jon A. Kemppainen, E. Wilson
1998Journal of Molecular Evolution86 citations
Semantic Scholar
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
D. Iacovazzo, R. Caswell, B. Bunce, Sian Jose +31 more
2016Acta Neuropathologica Communications72 citations Open access
Semantic Scholar
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
P. Marques, F. Caimari, Laura C. Hernández-Ramírez, D. Collier +279 more
2020Journal of Clinical Endocrinology and Metabolism58 citations Open access
Semantic Scholar
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates
K. McLennan, Y. Jeske, A. Cotterill, D. Cowley +5 more
2003Clinical Endocrinology58 citations
Semantic Scholar
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
D. Iacovazzo, R. Caswell, B. Bunce, Sian Jose +31 more
2016Acta Neuropathologica Communications54 citations Open access
Semantic Scholar
Androgen Receptor Signaling
Li Jia, Catherine S. Y. Choong, C. Ricciardelli, Joshua Kim +2 more
2004Cancer Research53 citations
Semantic Scholar
The outcome in Australian children with hyperinsulinism of infancy: early extensive surgery in severe cases lowers risk of diabetes
Michelle M. Jack, R. Greer, M. Thomsett, Rosslyn M. Walker +5 more
2003Clinical Endocrinology48 citations
Semantic Scholar
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.
Catherine S. Y. Choong, C. Quigley, F. S. French, Elizabeth M. Wilson
1996Journal of Clinical Investigation41 citations Open access
Semantic Scholar
Overexpression of aromatase associated with loss of heterozygosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers syndrome.
Seungmin Ham, S. Meachem, Catherine S. Y. Choong, A. Charles +5 more
2013Journal of Clinical Endocrinology and Metabolism35 citations Open access
Semantic Scholar
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
L. de Kock, B. Rivera, T. Revil, P. Thorner +10 more
2017British Journal of Cancer33 citations Open access
Semantic Scholar
Multinodular Goiter in children: an important pointer to a germline DICER1 mutation.
S. Rath, A. Bartley, A. Charles, N. Powers +5 more
2014Journal of Clinical Endocrinology and Metabolism33 citations
Semantic Scholar
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene
M. Abraham, Dong Li, Dave Tang, S. O'Connell +5 more
2017International Journal of Pediatric Endocrinology32 citations Open access
Semantic Scholar
Early cessation and non-response are important and possibly related problems in growth hormone therapy: An OZGROW analysis.
I. Hughes, Catherine S. Y. Choong, S. Rath, H. Atkinson +4 more
2016Growth Hormone & IGF Research31 citations
Semantic Scholar
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development
Joyce Y. Wu, Ivan Mcgown, Lin Lin, J. Achermann +6 more
2013Clinical Endocrinology29 citations Open access
Semantic Scholar
Sertoli-Leydig cell tumor of the ovary, a rare cause of precocious puberty in a 12-month-old infant.
Catherine S. Y. Choong, P. Fuller, S. Chu, Y. Jeske +9 more
2002Journal of Clinical Endocrinology and Metabolism28 citations
Semantic Scholar
Exploring the endocrine manifestations of DICER1 mutations.
Catherine S. Y. Choong, J. Priest, W. Foulkes
2012Trends in Molecular Medicine27 citations
Semantic Scholar
Angiotensinogen gene T235 variant: a marker for the development of persistent microalbuminuria in children and adolescents with type 1 diabetes mellitus.
P. Gallego, Neil Shephard, M. Bulsara, F. V. van Bockxmeer +8 more
2008Journal of diabetes and its complications26 citations
Semantic Scholar
Suppression of androgen receptor signaling in prostate cancer cells by an inhibitory receptor variant.
L. Butler, M. Centenera, P. Neufing, G. Buchanan +8 more
2006Molecular Endocrinology23 citations Open access
Semantic Scholar
Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia
M. Abraham, V. Shetty, Glynis J. Price, N. Smith +10 more
2015Journal of Pediatric Endocrinology & Metabolism (JPEM)21 citations
Semantic Scholar
Genotype-Phenotype Associations in Patients with Severe Hyperinsulinism of Infancy
R. Greer, Janaki Shah, Y. Jeske, David D Brown +10 more
2007Pediatric and Developmental Pathology21 citations
Semantic Scholar
Ski-interacting protein (SKIP) interacts with androgen receptor in the nucleus and modulates androgen-dependent transcription
D. Abankwa, S. Millard, N. Martel, Catherine S. Y. Choong +7 more
2013BMC Biochemistry20 citations Open access
Semantic Scholar
Partial androgen insensitivity caused by an androgen receptor mutation at amino acid 907 (Gly-->Arg) that results in decreased ligand binding affinity and reduced androgen receptor messenger ribonucleic acid levels.
Catherine S. Y. Choong, Marian Sturm, Julie A. Strophair, R. Mcculloch +3 more
1996Journal of Clinical Endocrinology and Metabolism20 citations Open access
Semantic Scholar
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
V. Shetty, C. Kiraly-Borri, P. Lamont, H. Bikker +1 more
2014Journal of Pediatric Endocrinology & Metabolism (JPEM)19 citations
Semantic Scholar
Efficacy of Hydrochlorothiazide and low renal solute feed in Neonatal Central Diabetes Insipidus with transition to Oral Desmopressin in early infancy
M. Abraham, S. Rao, Glynis J. Price, Catherine S. Y. Choong
2014International Journal of Pediatric Endocrinology18 citations Open access
Semantic Scholar
NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency
T. Novoselova, S. Rath, K. Carpenter, N. Pachter +5 more
2014Journal of Clinical Endocrinology and Metabolism18 citations Open access
Semantic Scholar
A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
K. Rothacker, K. Ayers, Dave Tang, Kiranjit K. Joshi +7 more
2018International Journal of Pediatric Endocrinology16 citations Open access
Semantic Scholar
Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens.
Elly Scheermeyer, M. Harris, I. Hughes, P. Crock +7 more
2017Growth Hormone & IGF Research15 citations Open access
Semantic Scholar
Report and review of described associations of Mayer‐Rokitansky‐Küster‐Hauser syndrome and Silver–Russell syndrome
M. Abraham, K. Carpenter, Gareth S. Baynam, D. J. Mackay +2 more
2015Journal of Paediatrics and Child Health14 citations
Semantic Scholar
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46, XY differences of sex development
K. Ayers, J. van den Bergen, G. Robevska, N. Listyasari +7 more
2019Journal of Medical Genetics13 citations Open access
Semantic Scholar
Completeness of protocols for clinical trials in children submitted to ethics committees
P. D. Joseph, Patrina H. Y. Caldwell, Elizabeth H. Barnes, K. Hynes +6 more
2018Journal of Paediatrics and Child Health13 citations
Semantic Scholar
X-linked Acrogigantism ( X-LAG ) Syndrome : Clinical Profile and Therapeutic Responses
A. Beckers, M. Lodish, G. Trivellin, L. Rostomyan +50 more
201512 citations
Semantic Scholar
Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement
Rebecca E. Brereton, Sarah L. Nickerson, K. Woodward, T. Edwards +13 more
2021American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome
Catherine S. Y. Choong, Marian J. Sturm, Julie A. Strophair, R. Mcculloch +1 more
1997Clinical Endocrinology8 citations
Semantic Scholar
GH secretagogue receptor gene polymorphisms are associated with stature throughout childhood.
S. Riedl, I. Hughes, M. Harris, G. M. Leong +3 more
2012European Journal of Endocrinology6 citations Open access
Semantic Scholar
Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy
S. O'Connell, S. Johnson, B. Lewis, Louise Staltari +7 more
2011Journal of Pediatric Endocrinology & Metabolism (JPEM)6 citations
Semantic Scholar
Variable persistence of serum testosterone in infants and children exposed to topical testosterone
Elaine E. Sanderson, M. Abraham, J. Joseph, C. Boyder +6 more
2020Journal of Paediatrics and Child Health4 citations
Semantic Scholar
Ten year analysis of the clinic profile of the tertiary paediatric endocrine service in Western Australia
Nadya Birdus, M. Grant, P. Stevenson, Catherine S. Y. Choong +1 more
2022Journal of Pediatric Endocrinology & Metabolism (JPEM)2 citations
Semantic Scholar
Response to low dose growth hormone treatment in infants and toddlers with Prader-Willi Syndrome
Elly Scheermeyer, M. Harris, I. Hughes, P. Crock +7 more
2015International Journal of Pediatric Endocrinology1 citations Open access
Semantic Scholar
Follicular thyroid carcinoma in a child presenting as autonomously functioning thyroid nodule
Kiranjit K. Joshi, G. Sim, F. Lannigan, F. Frost +7 more
2015International Journal of Pediatric Endocrinology1 citations Open access
Semantic Scholar
Chipping away the challenges of diagnostic genomics applications for short stature
D. Azmanov, Gillian Arscott, M. Abraham, J. Miller +8 more
20190 citations
Semantic Scholar
X-Linked acro-gigantism (X-LAG) syndrome : a new form of infant-onset pituitary gigantism
C. Stratakis, G. Trivellin, L. Rostomyan, M. Lodish +37 more
20150 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

A. Cotterill×8
Invite
A. Cotterill — researcher profile on SciRah
G. Trivellin×7
Invite
G. Trivellin — researcher profile on SciRah
C. Stratakis×6
Invite
C. Stratakis — researcher profile on SciRah
T. Cheetham×6
Invite
T. Cheetham — researcher profile on SciRah

×6

Invite

M. Abraham — researcher profile on SciRah

Invite

M. Harris — researcher profile on SciRah

Glynis J. Price×6

Invite

Glynis J. Price — researcher profile on SciRah

Invite

Bo Yuan — researcher profile on SciRah

L. Rostomyan×5

Invite

L. Rostomyan — researcher profile on SciRah

Invite

J. Caberg — researcher profile on SciRah

E. Castermans×5

Invite

E. Castermans — researcher profile on SciRah

Invite

N. Shah — researcher profile on SciRah