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citing journals

Top Articles

#TitleJournalYearCitations
1Elements of morphology: Standard terminology for the head and faceAmerican Journal of Medical Genetics, Part A2009145
2Cardiovascular malformations in Smith-Lemli-Opitz syndrome199773
3Altered expression of caveolin-1 and increased cholesterol in detergent insoluble membrane fractions from liver in mice with Niemann–Pick disease type CBiochimica Et Biophysica Acta - Molecular Basis of Disease199753
4The Npc1 mutation causes an altered expression of caveolin-1, annexin II and protein kinases and phosphorylation of caveolin-1 and annexin II in murine liversBiochimica Et Biophysica Acta - Molecular Basis of Disease199932
5Increased Expression of Caveolin-1 in Heterozygous Niemann-Pick Type II Human FibroblastsBiochemical and Biophysical Research Communications199729
6Diffusion Tensor Imaging in Niemann-Pick Type C DiseasePediatric Neurology200524
7Six patients with oral-facial-digital syndrome IV: The case for heterogeneityAmerican Journal of Medical Genetics Part A199723
8Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNAAmerican Journal of Medical Genetics, Part A200717
9Distal arthrogryposis type IIB: Further clinical delineation and 54-year follow-up of an index caseAmerican Journal of Medical Genetics Part A199514
10High-resolution mapping of the spm (niemann-pick type C) locus on mouse chromosome 18Mammalian Genome199714
11The role of multiple drug resistance proteins in fetal and/or placental protection against teratogen-induced orofacial cleftingMolecular Reproduction and Development200710
12Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literatureJournal of Applied Genetics20099
13The Niemann–Pick C1 protein in feline fibroblastsMolecular Genetics and Metabolism20026
14Cardiovascular malformations in Smith‐Lemli‐Opitz syndromeAmerican Journal of Medical Genetics Part A19974
15Six patients with oral‐facial‐digital syndrome IV: The case for heterogeneityAmerican Journal of Medical Genetics Part A19971
16A new chromosome anomaly in a patient with apparent C (trigonocephaly) syndromeAmerican Journal of Medical Genetics, Part A20070