Mark D. Ludman
Meir Medical Center(IL)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Lysosomal Storage Disorders Research, Connective tissue disorders research, Genetic and Kidney Cyst Diseases, Genomics and Rare Diseases
Most-Cited Works
- → Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia(2009)246 cited
- → Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4(2010)195 cited
- → Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature(2000)178 cited
- → Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome(2011)171 cited
- → Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome(2010)147 cited
- → Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen(1997)127 cited
- → Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene(1994)115 cited
- → Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2(2009)92 cited
- → Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma(2013)84 cited
- → Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families(1997)78 cited