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Publications by F. Lucy Raymond
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy With Deafness, Is Caused by Mutations in C20orf54
American Journal of Human Genetics
Genetics
A Gain-Of-Function Variant in DIAPH1 Causes Dominant Macrothrombocytopenia and Hearing Loss
Blood
Biochemistry
Immunology
Cell Biology
Hematology
Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data
Genetics in Medicine
Medicine
Genetics
Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A
npj Genomic Medicine
Genetics
Molecular Biology
Childhood Intellectual Disability and Parents' Mental Health: Integrating Social, Psychological and Genetic Influences
British Journal of Psychiatry
Medicine
Psychiatry
Mental Health
Unique Non-Coding Variants Upstream of PRDM13 Are Associated With a Spectrum of Developmental Retinal Dystrophies Including Progressive Bifocal Chorioretinal Atrophy
Human Mutation
Genetics
Publisher Correction: Impaired Oxidative Stress Response Characterizes HUWE1-promoted X-Linked Intellectual Disability
Scientific Reports
Multidisciplinary
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