Brendan C. Lanpher
WinnMed(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology
Most-Cited Works
- → Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders(2009)265 cited
- → A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells.(1994)242 cited
- → Kabuki syndrome: international consensus diagnostic criteria(2018)240 cited
- → A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes(2009)181 cited
- → Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies(2017)159 cited
- → Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans(2017)154 cited
- → De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias(2018)148 cited
- → Inborn errors of metabolism: the flux from Mendelian to complex diseases(2006)126 cited
- Urea Cycle Disorders Overview(2015)
- → Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome(2021)104 cited