# | Title | Journal | Year | Citations |
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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 | Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries | Cell | 2012 | 534 |
8 | Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1 | Nature Genetics | 2013 | 483 |
9 | The link between the GBA gene and parkinsonism | Lancet Neurology, The | 2012 | 475 |
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 | Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4 | American Journal of Human Genetics | 1999 | 360 |
16 | Clinical, Immunologic, and Genetic Features of an Autoimmune Lymphoproliferative Syndrome Associated With Abnormal Lymphocyte Apoptosis | Blood | 1997 | 358 |
17 | Glucocerebrosidase mutations in subjects with parkinsonism | Molecular Genetics and Metabolism | 2004 | 353 |
18 | Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics | Annual Review of Genomics and Human Genetics | 2008 | 349 |
19 | VACTERL/VATER Association | Orphanet Journal of Rare Diseases | 2011 | 336 |
20 | Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis | Nature Genetics | 2000 | 323 |
21 | Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects | Nature Genetics | 2000 | 319 |
22 | 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 |
23 | Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes | Nature Genetics | 1996 | 306 |
24 | A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 | American Journal of Human Genetics | 2000 | 300 |
25 | Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly | American Journal of Human Genetics | 2002 | 293 |
26 | Proteomic analysis of platelet α‐granules using mass spectrometry | Journal of Thrombosis and Haemostasis | 2007 | 275 |
27 | Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR | Nature Genetics | 2004 | 272 |
28 | The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases | Genetics in Medicine | 2012 | 254 |
29 | Genetics of ventral forebrain development and holoprosencephaly | Current Opinion in Genetics and Development | 2000 | 245 |
30 | A Second Locus for Familial High Myopia Maps to Chromosome 12q | American Journal of Human Genetics | 1998 | 243 |
31 | 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 |
32 | NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules | Nature Genetics | 2011 | 223 |
33 | Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | Human Genetics | 2002 | 220 |
34 | The molecular genetics of holoprosencephaly | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 220 |
35 | Activation of -Glucocerebrosidase Reduces Pathological -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons | Journal of Neuroscience | 2016 | 220 |
36 | Evidence That a Locus for Familial High Myopia Maps to Chromosome 18p | American Journal of Human Genetics | 1998 | 217 |
37 | Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells | Nature Methods | 2015 | 214 |
38 | Cbfβ interacts with Runx2 and has a critical role in bone development | Nature Genetics | 2002 | 207 |
39 | 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 |
40 | 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 |
41 | Glucocerebrosidase mutations are an important risk factor for Lewy body disorders | Neurology | 2006 | 204 |
42 | 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 |
43 | Mucolipidosis type IV: An update | Molecular Genetics and Metabolism | 2011 | 203 |
44 | A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers | Development (Cambridge) | 2006 | 198 |
45 | Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture | Nature Genetics | 2021 | 198 |
46 | Glucocerebrosidase and its relevance to Parkinson disease | Molecular Neurodegeneration | 2019 | 197 |
47 | Effect of the Secretory Small GTPase Rab27B on Breast Cancer Growth, Invasion, and Metastasis | Journal of the National Cancer Institute | 2010 | 196 |
48 | Liver and kidney disease in ciliopathies | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2009 | 193 |
49 | Lysosomal storage diseases | Translational Science of Rare Diseases | 2017 | 190 |
50 | Adverse Birth Outcome Among Mothers With Low Serum Cholesterol | Pediatrics | 2007 | 188 |