Lauren Borch

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Sarah Barclay, Casey M. Rand, Lauren Borch et al. · Orphanet Journal of Rare Diseases · 2015 · 55 citations · Full text

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

Nicholas M. Allen, Mark O’Rahelly, B. Eymard et al. · Brain · 2023 · 31 citations · Full text

Fetal Movement, Immunology, Fetal Medicine +19

Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders

Lauren Borch, Jillian S. Parboosingh, Mary Ann Thomas et al. · Genetics in Medicine · 2020 · 26 citations · Full text

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada et al. · The American Journal of Human Genetics · 2024 · 16 citations · Full text

Allelic Variant, Engineering, Genotype-phenotype Associations +12