Richard Fisher
Northwell Health(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Solar and Space Plasma Dynamics, RNA modifications and cancer
Most-Cited Works
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited
- → Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder(2012)159 cited
- → Clinical and genetic aspects of KBG syndrome(2016)137 cited
- → The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants(2018)110 cited
- → De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes(2015)89 cited
- → Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction(2019)63 cited
- → Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome(2014)62 cited
- → Clinical expression of Menkes disease in females with normal karyotype(2012)45 cited