Susan M Kirwin

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C; The Journal of clinical endocrinology and metabolism; (2021).

Genome sequencing in persistently unsolved white matter disorders; Annals of Clinical and Translational Neurology; (2020).

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing; American Journal of Medical Genetics, Part A; (2020).

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia; American Journal of Medical Genetics, Part A; (2015).

Tafazzin splice variants and mutations in Barth syndrome; Molecular Genetics and Metabolism; (2014).

Erratum to Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome [Am J Med Genet Part A, 161A, (2014) 1638-1646]; American Journal of Medical Genetics, Part A; (2014).

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome; American Journal of Medical Genetics, Part A; (2013).

A homozygous double mutation in SMN1: A complicated genetic diagnosis of SMA; Molecular Genetics and Genomic Medicine; (2013).

Brain-lung-thyroid disease: Clinical features of a kindred with a novel thyroid transcription factor 1 mutation; Journal of Child Neurology; (2012).

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism; Journal of Pediatric Endocrinology and Metabolism; (2012).

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1; American Journal of Medical Genetics Part A; (2012).

Recombinant human Clara cell secretory protein treatment increases lung mRNA expression of surfactant proteins and vascular endothelial growth factor in a premature lamb model of respiratory distress syndrome; American Journal of Perinatology; (2008).

Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation; Fertility and Sterility; (2007).

Leptin enhances lung maturity in the fetal rat; Pediatric Research; (2006).

Hyperoxia and nitric oxide reduce surfactant components (DSPC and surfactant proteins) and increase apoptosis in adult and fetal rat type II pneumocytes; Lung; (2002).

Immaturity or Starvation? Longitudinal Study of Leptin Levels in Premature Infants; Neonatology; (2001).

Glucocorticoids decrease interleukin-6 levels and induce mineralization of cultured osteogenic cells from children with fibrous dysplasia; Journal of Bone and Mineral Research; (1999).

Leptin expression in human mammary epithelial cells and breast milk; Journal of Clinical Endocrinology and Metabolism; (1998).

Placental leptin: an important new growth factor in intrauterine and neonatal development?; Pediatrics; (1997).

Entactin promotes adhesion and long‐term maintenance of cultured regenerated skeletal myotubes; Journal of Cellular Physiology; (1992).

Heme-containing compounds replace chick embryo extract and enhance differentiation in avian muscle cell culture; In Vitro Cellular & Developmental Biology - Animal; (1992).

Developmental regulation of creatine kinase activity in cells of the epiphyseal growth cartilage; Journal of Bone and Mineral Research; (1992).

Rapid indirect immunofluorescence of cultured cells facilitated by microwave heating; BioTechniques; (1991).

Hemin enhances differentiation and maturation of cultured regenerated skeletal myotubes; Journal of Cellular Physiology; (1989).

Hemin increases aerobic capacity of cultured regenerating skeletal myotubes; American Journal of Physiology - Cell Physiology; (1988).