• <em>CDK5RAP2</em> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
• A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family
• A phenotypic variant of Knobloch syndrome
• Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome
• Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
• Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies
• Axonal trajectories and distribution of GABAergic spinal neurons in wildtype and mutant zebrafish lacking floor plate cells
• Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
• Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy
• CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
• Cerebellar disorganization characteristic of reeler in scrambler mutant mice despite presence of reelin
• Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts
• Complexity of the 5' Untranslated Region of <em>EIF4A3</em>, a Critical Factor for Craniofacial and Neural Development
• Craniofacial features resembling frontonasal dysplasia with a tubulonodular interhemispheric lipoma in the adult 3H1 tuft mouse
• Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families
• Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families
• FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
• Further delineation of the Toriello-Carey syndrome: a report of two siblings
• Genetic mosaic analysis of the equatorial-less mutation in Drosophila melanogaster
• Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling
• Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
• Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family
• Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms
• Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction
• Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
• Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules
• Phenotypic characterization of the transgenic mouse insertional mutation, legless
• The mechanism of palatal clefting in the Col11a1 mutant mouse
• The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects
• Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case