F. Lucy Raymond

Research interests

Publications

• ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

  Bioinformatics · 2019 · https://doi.org/10.1093/bioinformatics/btz431

• Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

  Intensive Care Medicine · 2019 · https://doi.org/10.1007/s00134-019-05552-x

• Germline selection shapes human mitochondrial DNA diversity

  Science · 2019 · https://doi.org/10.1126/science.aau6520

• SYT1-associated neurodevelopmental disorder: a case series

  Brain · 2018 · https://doi.org/10.1093/brain/awy209

• Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

  The American Journal of Human Genetics · 2016 · https://doi.org/10.1016/j.ajhg.2016.12.003

• Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

  Nature Genetics · 2016 · https://doi.org/10.1038/ng.3740

• Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

  The American Journal of Human Genetics · 2010 · https://doi.org/10.1016/j.ajhg.2010.02.006

• Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

  Science Translational Medicine · 2010 · https://doi.org/10.1126/scitranslmed.3001267

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.367

• SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

  The American Journal of Human Genetics · 2008 · https://doi.org/10.1016/j.ajhg.2008.01.013

• Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/511134

• Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

  Nature Genetics · 2007 · https://doi.org/10.1038/ng2100

• Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

  The American Journal of Human Genetics · 2006 · https://doi.org/10.1086/503875

• Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene

  Diabetes · 2006 · https://doi.org/10.2337/db06-0550

• Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1893

• 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/431653

• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

  Journal of Medical Genetics · 1997 · https://doi.org/10.1136/jmg.34.10.798

Current projects

No projects listed.