| # | Title | Journal | Year | Citations |
|---|
| 1 | A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases | Nature Medicine | 2015 | 1,967 |
| 2 | Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease | New England Journal of Medicine | 2009 | 1,747 |
| 3 | Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies | Cell | 2011 | 1,097 |
| 4 | Specific inhibition of gene expression by small double-stranded RNAs in invertebrate and vertebrate systems | Proceedings of the National Academy of Sciences of the United States of America | 2001 | 982 |
| 5 | The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP | Nature | 2012 | 795 |
| 6 | Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) | Human Mutation | 2008 | 551 |
| 7 | Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1 | Nature Genetics | 2013 | 483 |
| 8 | The link between the GBA gene and parkinsonism | Lancet Neurology, The | 2012 | 475 |
| 9 | Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease | Blood | 2014 | 462 |
| 10 | Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1β Activation and Severe Autoinflammation in Mice | Immunity | 2011 | 407 |
| 11 | Neuropathology provides clues to the pathophysiology of Gaucher disease | Molecular Genetics and Metabolism | 2004 | 405 |
| 12 | Retro-orbital injections in mice | Lab Animal | 2011 | 398 |
| 13 | Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease | Brain | 2014 | 397 |
| 14 | Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination | Nature Genetics | 2000 | 368 |
| 15 | Clinical, Immunologic, and Genetic Features of an Autoimmune Lymphoproliferative Syndrome Associated With Abnormal Lymphocyte Apoptosis | Blood | 1997 | 358 |
| 16 | Glucocerebrosidase mutations in subjects with parkinsonism | Molecular Genetics and Metabolism | 2004 | 353 |
| 17 | Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics | Annual Review of Genomics and Human Genetics | 2008 | 349 |
| 18 | VACTERL/VATER Association | Orphanet Journal of Rare Diseases | 2011 | 336 |
| 19 | Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis | Nature Genetics | 2000 | 323 |
| 20 | Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects | Nature Genetics | 2000 | 319 |
| 21 | Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features | Proceedings of the National Academy of Sciences of the United States of America | 2003 | 313 |
| 22 | Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes | Nature Genetics | 1996 | 306 |
| 23 | A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 | American Journal of Human Genetics | 2000 | 300 |
| 24 | Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly | American Journal of Human Genetics | 2002 | 293 |
| 25 | Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR | Nature Genetics | 2004 | 272 |
| 26 | Genetics of ventral forebrain development and holoprosencephaly | Current Opinion in Genetics and Development | 2000 | 245 |
| 27 | A Second Locus for Familial High Myopia Maps to Chromosome 12q | American Journal of Human Genetics | 1998 | 243 |
| 28 | Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis | American Journal of Human Genetics | 2002 | 238 |
| 29 | NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules | Nature Genetics | 2011 | 223 |
| 30 | Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | Human Genetics | 2002 | 220 |
| 31 | The molecular genetics of holoprosencephaly | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 220 |
| 32 | Activation of -Glucocerebrosidase Reduces Pathological -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons | Journal of Neuroscience | 2016 | 220 |
| 33 | Evidence That a Locus for Familial High Myopia Maps to Chromosome 18p | American Journal of Human Genetics | 1998 | 217 |
| 34 | Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells | Nature Methods | 2015 | 214 |
| 35 | Cbfβ interacts with Runx2 and has a critical role in bone development | Nature Genetics | 2002 | 207 |
| 36 | Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome | American Journal of Human Genetics | 1998 | 206 |
| 37 | A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors | Human Molecular Genetics | 1999 | 204 |
| 38 | Persistence and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: long-term results of the first clinical gene therapy trial | Blood | 2003 | 203 |
| 39 | Mucolipidosis type IV: An update | Molecular Genetics and Metabolism | 2011 | 203 |
| 40 | A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers | Development (Cambridge) | 2006 | 198 |
| 41 | Glucocerebrosidase and its relevance to Parkinson disease | Molecular Neurodegeneration | 2019 | 197 |
| 42 | Liver and kidney disease in ciliopathies | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2009 | 193 |
| 43 | Lysosomal storage diseases | Translational Science of Rare Diseases | 2017 | 190 |
| 44 | Adverse Birth Outcome Among Mothers With Low Serum Cholesterol | Pediatrics | 2007 | 188 |
| 45 | A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos | Human Molecular Genetics | 2000 | 187 |
| 46 | A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway | Cell | 2013 | 184 |
| 47 | CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle | American Journal of Human Genetics | 2002 | 182 |
| 48 | Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein | Nature Genetics | 2008 | 182 |
| 49 | Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome | Nature Genetics | 1996 | 179 |
| 50 | The BEACH Is Hot: A LYST of Emerging Roles for BEACH‐Domain Containing Proteins in Human Disease | Traffic | 2013 | 173 |
