Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes:
familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal‐…

Diagnosing mitochondrial disorders remains challenging. This is partly because the clinical
phenotypes of patients overlap with those of other sporadic and inherited disorders. …

We identified four different missense mutations in the single-exon gene MAB21L2 in eight
individuals with bilateral eye malformations from five unrelated families via three independent …

Recent advances in sequencing technology allow data on the human genome to be generated
more quickly and in greater detail than ever before. Such detail includes findings that …

Background Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition
syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and …

Background Diagnostic use of gene panel next-generation sequencing (NGS) techniques is
commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically …

To date, over 150 disease-associated variants in CRB1 have been described, resulting in a
range of retinal disease phenotypes including Leber congenital amaurosis and retinitis …

Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative
disorders, including the fragile X syndrome and fragile X-associated tremor/ataxia syndrome (…

Background Heterozygous copy number variants (CNVs) or sequence variants in the
contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide …

Determination of neuroglial cell fate and neural tube development during embryogenesis is
influenced by the Notch/Wnt signalling pathway. We have studied the localisation of several …