Missense mutations in MORC2 cause neuropathies including spinal muscular atrophy and
Charcot–Marie–Tooth disease. We recently identified MORC2 as an effector of epigenetic …

Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is
caused either by the contraction of the D4Z4 macrosatellite repeat at the distal end of …

A new optimized size exclusion chromatography small-angle X-ray scattering (SEC-SAXS)
system for biomolecular SAXS at the Australian Synchrotron SAXS/WAXS beamline has …

Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic,
known as Kallmann syndrome (KS), is due to gonadotropin-releasing hormone deficiency …

Prader-Willi syndrome (PWS) is caused by the loss of function of the paternally inherited
15q11-q13 locus. This region is governed by genomic imprinting, a phenomenon in which …

In vertebrates, hematopoiesis occurring in different niches is orchestrated by intrinsic and
extrinsic regulators. Previous studies have revealed numerous linear and planar regulatory …

As new genes for A/M are identified in the genomic era, the number of syndromes
associated with A/M has greatly expanded. In this review, we provide a brief synopsis of the …

Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells
that control sexual reproduction. During embryonic development, GnRH neurons migrate …

Proteins involved in transcriptional regulation harbor a demonstrated enrichment of
mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone …

Zebrafish is a model organism that affords experimental advantages toward investigating the
normal function of genes associated with congenital birth defects. Here we summarize …