Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza, +20

Brain

GeneticsGlycobiologyMolecular BiologyMolecular GeneticsComplex Ganglioside Biosynthesis +18

Hypomorphic PCNA mutation underlies a human DNA repair disorder

Emma L. Baple, Helen Chambers, Harold E. Cross, +19

Journal of Clinical Investigation

ChromatinGenome InstabilityHypomorphic Pcna MutationDna DamageGenetic Disorder +12

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby, Heema Patel, Barry A. Chioza, +12

The American Journal of Human Genetics

Mitochondrial BiogenesisMitochondrial FunctionGeneticsSpastic AtaxiaNeurology +1

A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi, +17

Brain

GeneticsSpastic ParaparesisSignaling PathwayNeurologyHereditary Spastic Paraplegia +16

Mutation of HERC2 causes developmental delay with Angelman-like features

Gaurav V. Harlalka, Emma L. Baple, Harold E. Cross, +12

Journal of Medical Genetics

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro, +43

Brain

Brain DevelopmentGeneticsMolecular BiologyNeurodevelopmentCerebral Organoid +25

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i>

Robert N. Jinks, Erik G. Puffenberger, Emma L. Baple, +27

Brain

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Lin Li, Xiaodong Jiao, Ilaria D’Atri, +38

PLoS Genetics

Ocular DiseaseMolecular PhysiologySignal TransductionOphthalmologyRetina +11

MNS1 variant associated with situs inversus and male infertility

Joseph S. Leslie, Lettie E. Rawlins, Barry A. Chioza, +10

European Journal of Human Genetics

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Haicui Wang, Claire Salter, Osama Refai, +20

Brain

Developmental BiologySignal TransductionHigh-affinity Choline TransporterMendelian DisorderGenetics +11