X‐linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies
Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …
[HTML][HTML] Pulmonary hypertension associated with bronchopulmonary dysplasia in preterm infants
CB Bui, MA Pang, A Sehgal, C Theda, JC Lao… - Journal of reproductive …, 2017 - Elsevier
Bronchopulmonary dysplasia (BPD) and BPD-associated pulmonary hypertension (BPD-
PH) are chronic inflammatory cardiopulmonary diseases with devastating short-and long …
PH) are chronic inflammatory cardiopulmonary diseases with devastating short-and long …
[HTML][HTML] A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
WJ Park, C Theda, NE Maestri, GA Meyers… - American journal of …, 1995 - ncbi.nlm.nih.gov
A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but
one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or …
one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or …
[PDF][PDF] De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
M Oldridge, EH Zackai, DM McDonald-McGinn… - The American Journal of …, 1999 - cell.com
Apert syndrome, one of five craniosynostosis syndromes caused by allelic mutations of
fibroblast growth-factor receptor 2 (FGFR2), is characterized by symmetrical bony syndactyly …
fibroblast growth-factor receptor 2 (FGFR2), is characterized by symmetrical bony syndactyly …
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …
robust clinical and laboratory pathways that provide equitable and consistent service across …
[HTML][HTML] An epigenetic clock for gestational age at birth based on blood methylation data
AK Knight, JM Craig, C Theda, M Bækvad-Hansen… - Genome biology, 2016 - Springer
Background Gestational age is often used as a proxy for developmental maturity by
clinicians and researchers alike. DNA methylation has previously been shown to be …
clinicians and researchers alike. DNA methylation has previously been shown to be …
[HTML][HTML] Quantitation of the cellular content of saliva and buccal swab samples
Buccal swabs and saliva are the two most common oral sampling methods used for medical
research. Often, these samples are used interchangeably, despite previous evidence that …
research. Often, these samples are used interchangeably, despite previous evidence that …
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
Mutations have been reported for several craniosynostotic disorders in exon Illa (exon U or
7) or Illc (exon B or 9) of the fibroblast growth factor receptor 2 gene (FGFR2). Among the …
7) or Illc (exon B or 9) of the fibroblast growth factor receptor 2 gene (FGFR2). Among the …
[HTML][HTML] Analysis of epigenetic changes in survivors of preterm birth reveals the effect of gestational age and evidence for a long term legacy
MN Cruickshank, A Oshlack, C Theda, PG Davis… - Genome medicine, 2013 - Springer
Background Preterm birth confers a high risk of adverse long term health outcomes for
survivors, yet the underlying molecular mechanisms are unclear. We hypothesized that …
survivors, yet the underlying molecular mechanisms are unclear. We hypothesized that …