Ben A. Penninger Oostra

Ben A. Penninger Oostra's AcademicInfluence.com Rankings

Biology

#6376

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#9073

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Molecular Biology

#648

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#663

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Genetics

#590

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#670

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Biology

Ben A. Penninger Oostra's Degrees

Bachelors Biology University of California, Berkeley
PhD Genetics Stanford University

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Ben A. Penninger Oostra's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 (1998) (3363)
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome (1991) (3264)
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism (2002) (2622)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox (1991) (2046)
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
Hundreds of variants clustered in genomic loci and biological pathways affect human height (2010) (1961)
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. (1995) (1429)
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 (1994) (1421)
Absence of expression of the FMR-1 gene in fragile X syndrome (1991) (1398)
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. (1996) (1236)
New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. (2003) (1104)
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture (2012) (1045)
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. (1997) (1035)
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts (2009) (909)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2010) (897)
Fmr1 knockout mice: A model to study fragile X mental retardation (1994) (869)
GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment (2013) (803)
Identification of seven loci affecting mean telomere length and their association with disease (2013) (761)
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways (2012) (758)
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance (2012) (756)
New loci associated with kidney function and chronic kidney disease (2010) (754)
The Fragile X Syndrome Protein FMRP Associates with BC1 RNA and Regulates the Translation of Specific mRNAs at Synapses (2003) (691)
Sequence variants at CHRNB3–CHRNA6 and CYP2A6 affect smoking behavior (2010) (688)
Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies (2009) (687)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
Whole-genome sequence variation, population structure and demographic history of the Dutch population (2014) (650)
Von HippelLindau disease maps to the region of chromosome 3 associated with renal cell carcinoma (1988) (636)
A point mutation in the FMR-1 gene associated with fragile X mental retardation (1993) (621)
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis (2011) (606)
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013) (568)
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2015) (532)
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. (1999) (528)
Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (516)
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis (2001) (515)
Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche (2014) (511)
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease (2005) (508)
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies (2010) (477)
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly (2002) (460)
Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals (2012) (459)
Meta-analyses of genetic studies on major depressive disorder (2008) (445)
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism (2003) (419)
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. (1999) (418)
FTO genotype is associated with phenotypic variability of body mass index (2012) (407)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction. (2001) (385)
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. (2001) (384)
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (2013) (379)
Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect (2013) (375)
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium (2009) (369)
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. (2006) (366)
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits (2013) (365)
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction (2010) (345)
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome (2009) (339)
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome (1993) (329)
Mutations in GDI1 are responsible for X-linked non-specific mental retardation (1998) (323)
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. (2012) (319)
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease (2007) (316)
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile (2011) (313)
Sequence variants at CHRNB 3 – CHRNA 6 and CYP 2 A 6 affect smoking behavior (2010) (312)
FMRP expression as a potential prognostic indicator in fragile X syndrome. (1999) (308)
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice (2008) (307)
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism (2012) (300)
Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders (2013) (299)
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome. (2005) (294)
Predicting Type 2 Diabetes Based on Polymorphisms From Genome-Wide Association Studies (2008) (292)
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies (2006) (284)
NRXN3 Is a Novel Locus for Waist Circumference: A Genome-Wide Association Study from the CHARGE Consortium (2009) (281)
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture (2013) (280)
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. (2008) (276)
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. (2002) (274)
Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome (2000) (273)
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. (2003) (270)
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (2011) (270)
The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm (1993) (267)
Collaborative Meta-analysis: Associations of 150 Candidate Genes With Osteoporosis and Osteoporotic Fracture (2009) (267)
ACE polymorphisms. (2006) (266)
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early‐Onset Parkinsonism (2013) (264)
Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases (2012) (263)
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
The Genome of the Netherlands: design, and project goals (2013) (260)
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. (2008) (253)
A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan (2006) (249)
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome (2011) (247)
Genomewide association studies of stroke. (2009) (247)
New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk (2016) (242)
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia (2003) (241)
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. (2003) (233)
Association between genetic variation in the gene for insulin-like growth factor-l and low birthweight (2002) (229)
GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. (2015) (229)
Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse (2002) (229)
Common variants at 12q14 and 12q24 are associated with hippocampal volume (2012) (227)
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption (2014) (224)
A Genome-Wide Association Study of Optic Disc Parameters (2010) (216)
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. (1999) (215)
Mildly impaired water maze performance in maleFmr1 knockout mice (1997) (214)
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque (2011) (214)
Genome-wide analysis of multiethnic cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma (2014) (212)
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning (2011) (211)
Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey (1997) (211)
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14 (2010) (208)
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. (1992) (207)
Characterization of the full fragile X syndrome mutation in fetal gametes (1997) (204)
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis (2008) (203)
Mutations in TITF-1 are associated with benign hereditary chorea. (2002) (203)
The fragile X syndrome. (1998) (200)
The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis (2013) (199)
Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations (2009) (199)
Mental status of females with an FMR1 gene full mutation. (1996) (199)
Genetic evidence of assortative mating in humans (2017) (199)
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. (1997) (197)
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo (2006) (192)
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor (2005) (191)
Transgenic mouse model for the fragile X syndrome. (1996) (190)
Familial aggregation in frontotemporal dementia (1998) (187)
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. (2000) (187)
Shared Constitutional Risks for Maternal Vascular-Related Pregnancy Complications and Future Cardiovascular Disease (2008) (186)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility (2015) (185)
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma (2012) (185)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations (2012) (181)
Long-term potentiation in the hippocampus of fragile X knockout mice. (1996) (181)
In vitro reactivation of the FMR1 gene involved in fragile X syndrome. (1998) (180)
Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function (2012) (180)
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE (1994) (177)
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. (2012) (176)
Estimating human age from T-cell DNA rearrangements (2010) (173)
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease (2006) (170)
Normal phenotype in two brothers with a full FMR1 mutation. (1995) (170)
Altered differentiation of neural stem cells in fragile X syndrome. (2005) (169)
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. (2010) (168)
A Genome-Wide Association Study of Depressive Symptoms (2013) (166)
Transport of Fragile X Mental Retardation Protein via Granules in Neurites of PC12 Cells (2002) (163)
The effect of genetic drift in a young genetically isolated population. (2005) (163)
Common genetic variants associated with open-angle glaucoma. (2011) (161)
Primary structure and processing of lysosomal alpha‐glucosidase; homology with the intestinal sucrase‐isomaltase complex. (1988) (160)
Clinical features of boys with fragile X premutations and intermediate alleles (2003) (157)
Dendritic channelopathies contribute to neocortical and sensory hyperexcitability in Fmr1−/y mice (2014) (157)
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly (2005) (156)
Genome-wide association analysis identifies multiple loci related to resting heart rate. (2010) (154)
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. (2005) (153)
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice (2000) (151)
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways (2012) (150)
Meta-analyses identify 13 novel loci associated with age at menopause and highlights DNA repair and immune pathways (2011) (149)
Instability of a (CGG)98 repeat in the Fmr1 promoter. (2001) (148)
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. (2007) (148)
Linkage disequilibrium in young genetically isolated Dutch population (2004) (146)
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (2013) (143)
FMRP is associated to the ribosomes via RNA. (1996) (143)
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. (2004) (142)
SIRT1 Genetic Variation Is Related to BMI and Risk of Obesity (2009) (139)
Multiethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI (2015) (139)
Trinucleotide repeat polymorphism in the androgen receptor gene (AR). (1992) (138)
Knockout mouse model for Fxr2: a model for mental retardation. (2002) (138)
Nucleotide Excision DNA Repair Is Associated With Age-Related Vascular Dysfunction (2012) (137)
Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson’s disease (2004) (137)
The Molecular Genetic Architecture of Self-Employment (2013) (137)
A fragile balance: FMR1 expression levels. (2003) (137)
A Reduced Number of Metabotropic Glutamate Subtype 5 Receptors Are Associated with Constitutive Homer Proteins in a Mouse Model of Fragile X Syndrome (2005) (136)
Homozygous PINK1 C‐terminus mutation causing early‐onset parkinsonism (2004) (136)
Human lysosomal alpha-glucosidase. Characterization of the catalytic site. (1991) (135)
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics (2017) (133)
Park6‐linked parkinsonism occurs in several european families (2002) (132)
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. (2007) (130)
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. (1994) (130)
FMR1: a gene with three faces. (2009) (129)
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS) (2005) (129)
Characterization of the human lysosomal alpha-glucosidase gene. (1990) (128)
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. (2006) (128)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (127)
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. (2003) (127)
Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. (2007) (127)
The fragile X syndrome: from molecular genetics to neurobiology. (2004) (125)
Molecular dissection of the events leading to inactivation of the FMR1 gene. (2005) (124)
Multiple Loci Are Associated with White Blood Cell Phenotypes (2011) (123)
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. (2015) (123)
Gene finding in genetically isolated populations. (2002) (123)
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. (1998) (122)
Heritability of the Function and Structure of the Arterial Wall: Findings of the Erasmus Rucphen Family (ERF) Study (2005) (121)
Microsatellite repeat instability and neurological disease (2009) (121)
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
Species-Dependent Posttranscriptional Regulation of NOS1 by FMRP in the Developing Cerebral Cortex (2012) (120)
Predicting human height by Victorian and genomic methods (2009) (120)
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. (2013) (120)
Fragile X-related proteins regulate mammalian circadian behavioral rhythms. (2008) (120)
Genome scan for Tourette disorder in affected-sibling-pair and multigenerational families. (2007) (119)
Sex-specific genetic effects influence variation in body composition (2008) (118)
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome (2011) (118)
Genome-wide association study meta-analysis of chronic widespread pain: evidence for involvement of the 5p15.2 region (2012) (118)
Survival in Elderly Persons with Down Syndrome (2008) (113)
Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. (1999) (113)
Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development. (1998) (111)
Timing of the absence of FMR1 expression in full mutation chorionic villi (2002) (110)
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. (2014) (109)
The Effect of Genetic Drift in a Young Genetically Isolated Population (2005) (107)
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. (2009) (107)
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. (2002) (107)
Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study (2008) (105)
LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample. (2006) (105)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2011) (104)
Plasma phosphatidylcholine and sphingomyelin concentrations are associated with depression and anxiety symptoms in a Dutch family-based lipidomics study. (2013) (104)
Postmeiotic transcription of X and Y chromosomal genes during spermatogenesis in the mouse. (1995) (103)
Telomere length in circulating leukocytes is associated with lung function and disease (2013) (103)
Complement component C3 and risk of age-related macular degeneration. (2008) (103)
Genome-wide association study of Tourette Syndrome (2012) (102)
Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies (2012) (102)
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. (2009) (102)
Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes (2007) (101)
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. (1995) (101)
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q (1994) (101)
CGG‐repeat length and neuropathological and molecular correlates in a mouse model for fragile X‐associated tremor/ataxia syndrome (2008) (100)
52 Genetic Loci Influencing Myocardial Mass. (2016) (98)
Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice (2009) (97)
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. (1993) (96)
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype (2006) (96)
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. (2006) (96)
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. (1993) (96)
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. (1999) (95)
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (2010) (95)
Shared genetic factors in migraine and depression (2010) (94)
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. (1993) (94)
Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene. (1993) (94)
Common Genetic Variation in the 3′-BCL11B Gene Desert Is Associated With Carotid-Femoral Pulse Wave Velocity and Excess Cardiovascular Disease Risk: The AortaGen Consortium (2012) (91)
Early-onset parkinsonism associated with PINK1 mutations (2005) (91)
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation (2009) (91)
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. (1998) (90)
Characterization of FMR1 proteins isolated from different tissues. (1995) (89)
Potential therapeutic interventions for fragile X syndrome. (2010) (89)
Fragile X syndrome: From protein function to therapy (2013) (89)
Meta-analysis of genome-wide association for migraine in six population-based European cohorts (2011) (89)
Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice (2013) (88)
Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis (2009) (88)
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments (2005) (87)
The Role of Body Mass Index, Insulin, and Adiponectin in the Relation Between Fat Distribution and Bone Mineral Density (2009) (87)
Genetic Architecture of Plasma Adiponectin Overlaps With the Genetics of Metabolic Syndrome–Related Traits (2010) (86)
Understanding fragile X syndrome: insights from animal models (2003) (86)
Generation and Characterization of Fmr1 Knockout Zebrafish (2009) (85)
Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant (2014) (84)
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia (2011) (82)
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration (2013) (82)
Evidence of Inbreeding Depression on Human Height (2012) (81)
EVI5 is a risk gene for multiple sclerosis (2008) (80)
Localization of autosomal recessive early‐onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset (2002) (80)
Association of FMRP with ribosomal precursor particles in the nucleolus. (1996) (80)
High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal (2007) (80)
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease. (2005) (80)
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease (1999) (79)
ROBO2 gene variants are associated with familial vesicoureteral reflux. (2008) (79)
Plasma β amyloid and the risk of Alzheimer's disease in Down syndrome (2012) (78)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Genome-wide linkage analysis of serum creatinine in three isolated European populations. (2009) (78)
Apolipoprotein E gene and sporadic frontal lobe dementia (1997) (77)
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family. (1996) (77)
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. (1994) (76)
Cloning, characterization and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. (1996) (76)
Meta‐analysis of Genome‐Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology (2015) (76)
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process (2014) (75)
Skewed X-inactivation is common in the general female population (2018) (75)
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium (2012) (75)
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions (2012) (75)
Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (2015) (75)
Postmortem examination of two fragile X brothers with an FMR1 full mutation. (1999) (74)
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. (1994) (73)
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease) (2013) (73)
A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations: The EUROSPAN Project (2009) (72)
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. (2004) (72)
Maternal transmission of multiple sclerosis in a dutch population. (2008) (70)
Novel parkin mutations detected in patients with early‐onset Parkinson's disease (2005) (70)
Fragile X Mental Retardation Protein Regulates New Neuron Differentiation in the Adult Olfactory Bulb (2011) (70)
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging (1999) (70)
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (1999) (70)
Clinical features and neuroimaging of PARK7‐linked parkinsonism (2003) (70)
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. (2012) (67)
Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study (2010) (67)
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. (2013) (67)
Further Localization of the Gene for Hereditary Paragangliomas and Evidence for Linkage in Unrelated Families (1994) (66)
Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation (1993) (65)
The apolipoprotein E gene and its age-specific effects on cognitive function (2010) (65)
A metabolomic profile is associated with the risk of incident coronary heart disease. (2014) (65)
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II (1994) (65)
Transforming activity of polyoma virus middle-T antigen probed by site-directed mutagenesis (1983) (64)
Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes (2007) (64)
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age. (2014) (63)
Modeling of Environmental Effects in Genome-Wide Association Studies Identifies SLC2A2 and HP as Novel Loci Influencing Serum Cholesterol Levels (2010) (63)
Characterization of FMR1 promoter elements by in vivo-footprinting analysis. (1997) (63)
Linkage and Genome‐wide Association Analysis of Obesity‐related Phenotypes: Association of Weight With the MGAT1 Gene (2010) (62)
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. (1993) (62)
FMR1 Premutation Allele (CGG)81 Is Stable in Mice (1997) (62)
Genetic and clinical analysis of a large Dutch Gilles de la Tourette family (2006) (61)
FMR2 expression in families with FRAXE mental retardation. (1997) (61)
The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population (2008) (60)
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. (1993) (60)
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene. (1996) (60)
Migraine is not associated with enhanced atherosclerosis (2013) (59)
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape (2016) (59)
Segregation of the fragile X mutation from an affected male to his normal daughter. (1992) (59)
Polymorphism in the Promoter Region of the Insulin-like Growth Factor I Gene Is Related to Carotid Intima-Media Thickness and Aortic Pulse Wave Velocity in Subjects With Hypertension (2003) (58)
Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. (2013) (57)
Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) (2011) (57)
PET neuroimaging and mutations in the DJ-1 gene (2004) (56)
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level (2010) (55)
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (2013) (55)
The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. (2000) (55)
Familial aggregation, the PDE4D gene, and ischemic stroke in a genetically isolated population (2005) (55)
BDNF Regulates the Expression of Fragile X Mental Retardation Protein mRNA in the Hippocampus (2002) (55)
Unraveling the pathogenesis of Parkinson’s disease – the contribution of monogenic forms (2004) (53)
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. (1994) (52)
Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice (2011) (52)
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. (1994) (52)
LPIN2 Is Associated With Type 2 Diabetes, Glucose Metabolism, and Body Composition (2007) (51)
Mutations in GDI1 are responsible for X-linked non-specific mental retardation (1998) (50)
Risk Scores of Common Genetic Variants for Lipid Levels Influence Atherosclerosis and Incident Coronary Heart Disease (2013) (50)
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. (1995) (50)
Learning and memory in the FMR1 knockout mouse. (1999) (49)
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites. (1993) (49)
Genetics of mental retardation (2000) (49)
Polymorphisms of the renin–angiotensin system are associated with blood pressure, atherosclerosis and cerebral white matter pathology (2007) (49)
Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities (1999) (49)
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations (2005) (49)
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity. (1996) (49)
Deletion loop mutagenesis: a novel method for the construction of point mutations using deletion mutants. (1982) (48)
NPHP4 Variants Are Associated With Pleiotropic Heart Malformations (2012) (48)
Common DNA variants predict tall stature in Europeans (2014) (48)
PARK 7 , a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism , on Chromosome 1 p 36 (2001) (47)
The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells. (1996) (46)
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7 (2002) (46)
Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci (2014) (45)
Association of cognitive functioning with retinal nerve fiber layer thickness. (2009) (45)
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands. (2002) (45)
An antibody to a synthetic peptide recognizes polyomavirus middle-T antigen and reveals multiple in vitro tyrosine phosphorylation sites (1984) (45)
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. (1990) (45)
Chasing genes in Alzheimer’s and Parkinson’s disease (2004) (45)
Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish (2009) (45)
Decreased systemic IL-7 and soluble IL-7Rα in multiple sclerosis patients (2012) (44)
Heritability of fasting glucose levels in a young genetically isolated population (2006) (44)
Cathepsin D gene and the risk of Alzheimer's disease: A population-based study and meta-analysis (2011) (44)
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p (2007) (43)
PARK6 is a common cause of familial parkinsonism (2002) (43)
Heritability of Serum Iron, Ferritin and Transferrin Saturation in a Genetically Isolated Population, the Erasmus Rucphen Family (ERF) Study (2006) (43)
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation (1995) (43)
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels (2015) (43)
Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population (2011) (42)
Genetic linkage is excluded for the D2-dopamine receptor lambda HD2G1 and flanking loci on chromosome 11q22-q23 in Tourette syndrome. (1990) (42)
In vitro mutagenesis of the putative membrane-binding domain of polyomavirus middle-T antigen (1986) (42)
The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer’s disease (2007) (42)
Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease. (2012) (42)
Assessment of gene‐by‐sex interaction effect on bone mineral density (2012) (41)
A fragile gene (1995) (41)
LRRK2 MUTATION ANALYSIS IN PARKINSON DISEASE FAMILIES WITH EVIDENCE OF LINKAGE TO PARK8 (2008) (41)
Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. (2002) (40)
FBXO7 immunoreactivity in α-synuclein-containing inclusions in Parkinson disease and multiple system atrophy. (2013) (40)
Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene (2005) (39)
Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease (2004) (39)
Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (39)
A study of the SORL1 gene in Alzheimer's disease and cognitive function. (2009) (38)
A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34 (2003) (38)
Genetic risk factors for cerebral small-vessel disease in hypertensive patients from a genetically isolated population (2010) (37)
Genetic Loci Influencing Myocardial Mass (2017) (37)
Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2016) (37)
Screening with the FMR1 protein test among mentally retarded males (1998) (37)
Site-directed mutagenesis of polyomavirus middle-T antigen sequences encoding tyrosine 315 and tyrosine 250 (1986) (37)
Identification of a candidate gene for astigmatism. (2013) (36)
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease (2005) (36)
The GAB2 Gene and the Risk of Alzheimer's Disease: Replication and Meta-Analysis (2009) (36)
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity (2008) (36)
FXTAS: A progressive neurologic syndrome associated with fragile X premutation (2005) (36)
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases (1999) (35)
Lack of association of two common polymorphisms on 9p21 with risk of coronary heart disease and myocardial infarction; results from a prospective cohort study (2008) (35)
Common variants in Mendelian kidney disease genes and their association with renal function. (2013) (35)
Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype (2000) (35)
Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a chinese kindred (2002) (35)
A large Italian family with Gilles de la Tourette syndrome: Clinical study and analysis of the SLITRK1 gene (2007) (35)
The parkin gene and its phenotype (2001) (34)
A Genome-Wide Screen for Interactions Reveals a New Locus on 4p15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol (2011) (34)
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering DNA repair (2006) (34)
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands. (2003) (34)
Clinical implications of old and new genes for open-angle glaucoma. (2011) (33)
A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15 (2004) (33)
Enhancement of ribosomal ribonucleic acid synthesis by deoxyribonucleic acid gyrase activity in Escherichia coli (1981) (33)
Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish (2012) (33)
Menopause impacts the relation of plasma adiponectin levels with the metabolic syndrome (2010) (33)
Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells (2004) (33)
Immunocytochemical characterization of FMRP, FXR1P and FXR2P during embryonic development in the mouse (2000) (33)
Conservation of CGG region in FMR1 gene in mammals. (1994) (33)
Understanding the biological underpinnings of fragile X syndrome (2003) (32)
Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: The Erasmus Rucphen Family Study (2007) (32)
Novel strategy to identify genetic risk factors for COPD severity: a genetic isolate (2009) (32)
No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. (1990) (32)
Adult and infantile glycogenosis type II in one family, explained by allelic diversity. (1990) (31)
A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3 (2005) (31)
A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus. (2008) (31)
Fragile X syndrome, the Fragile X related proteins, and animal models (2002) (31)
Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype (2010) (31)
A mutation in the acyl‐coenzyme A binding domain‐containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia (2010) (31)
Genetic study on Tourette syndrome in The Netherlands. (1992) (31)
Abundant kif21b is associated with accelerated progression in neurodegenerative diseases (2014) (30)
N-acetyltransferase-2 polymorphism in Parkinson’s disease: the Rotterdam study (1999) (30)
Involvement of DNA gyrase in the transcription of ribosomal RNA. (1980) (30)
Familial clustering of multiple sclerosis in a Dutch genetic isolate (2007) (30)
High activity of Monoamine oxidase A is associated with externalizing behaviour in maltreated and nonmaltreated adoptees (2009) (30)
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. (1996) (30)
Genetic variants in RBFOX3 are associated with sleep latency (2016) (29)
Characterization of Fxr1 in Danio rerio; a simple vertebrate model to study costamere development (2004) (29)
Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis. (2005) (29)
Cerebrovascular risk factors do not contribute to genetic variance of cognitive function The ERF study (2007) (29)
The IL-7Rα Pathway Is Quantitatively and Functionally Altered in CD8 T Cells in Multiple Sclerosis (2012) (29)
GIGYF2 mutations are not a frequent cause of familial Parkinson's disease. (2009) (29)
Interactions between dietary vitamin E intake and SIRT1 genetic variation influence body mass index. (2010) (28)
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis (2007) (28)
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons (2009) (28)
Disentangling the genetics of lean mass. (2019) (28)
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium (2014) (28)
Phenotypic analysis of triphalangeal thumb and associated hand malformations. (1994) (28)
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. (1997) (28)
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II. (1991) (28)
Animal model for fragile X syndrome. (1997) (28)
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil (2006) (27)
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval (2013) (27)
Association of HSP70 and its co-chaperones with Alzheimer's disease. (2011) (26)
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred (2010) (26)
Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives. (2012) (26)
First locus for primary pulmonary vein stenosis maps to chromosome 2q. (2009) (25)
Epistatic effect of cholesteryl ester transfer protein and hepatic lipase on serum high-density lipoprotein cholesterol levels. (2007) (25)
Restoring the phenotype of fragile X syndrome: insight from the mouse model. (2001) (25)
The X chromosome and fragile X mental retardation (2002) (25)
Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis (2003) (25)
The fragile X syndrome (1997) (25)
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy (2011) (24)
A Genome-Wide Screen for Depression in Two Independent Dutch Populations (2010) (24)
Complex Behavior of Simple Repeats: The Fragile X Syndrome (1995) (24)
Association between Type 2 Diabetes Loci and Measures of Fatness (2010) (23)
Association of adiponectin and leptin with relative telomere length in seven independent cohorts including 11,448 participants (2014) (23)
The fragile X syndrome and other fragile site disorders. (1998) (23)
The cholesteryl ester transfer protein I405V polymorphism is associated with increased high-density lipoprotein levels and decreased risk of myocardial infarction: the Rotterdam Study (2007) (23)
Genetic architecture of open angle glaucoma and related determinants (2010) (23)
Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions (2012) (23)
Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval (2015) (22)
Heritability of dietary food intake patterns (2012) (22)
A systematic evaluation of 151 candidate genes for their association with osteoporosis and osteoporotic fracture in a meta-analysis of genome-wide association data (2009) (22)
Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population (2009) (22)
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. (1994) (22)
Founder effect in a Belgian-Dutch fragile X population (1993) (22)
Genetic architecture of circulating lipid levels (2011) (21)
Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population (2009) (20)
Linkage studies on Gilles de la Tourette syndrome: what is the strategy of choice? (1995) (20)
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. (2001) (20)
Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene (2011) (20)
Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (2001) (20)
Shared genetic factors in the co-occurrence of symptoms of depression and cardiovascular risk factors. (2010) (20)
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
A clinical-genetic study of Parkinson’s disease in a genetically isolated community (2003) (19)
A double RING-H2 domain in RNF32, a gene expressed during sperm formation. (2002) (18)
LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate. (2007) (18)
Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function (2007) (18)
Role of shared genetic and environmental factors in symptoms of depression and body composition (2009) (18)
Influence of oral contraceptive pills on phenotype expression in women with polycystic ovary syndrome. (2005) (18)
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate (2014) (18)
Effects of the Renin-Angiotensin System Genes and Salt Sensitivity Genes on Blood Pressure and Atherosclerosis in the Total Population and Patients With Type 2 Diabetes (2007) (17)
Genetic Variation in Candidate Genes Like the HMGA2 Gene in the Extremely Tall (2011) (17)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis (2000) (17)
Novel mutations in three families confirm a major role of COL 4 A 1 in hereditary (2005) (16)
Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands (2008) (16)
Reversal of Aging‐Induced Increases in Aortic Stiffness by Targeting Cytoskeletal Protein‐Protein Interfaces (2018) (16)
Cyclin-dependent kinase 5 is associated with risk for Alzheimer’s disease in a Dutch population-based study (2008) (16)
Longevity candidate genes and their association with personality traits in the elderly (2012) (16)
Subcellular Localization of Fragile X Mental Retardation Protein with the I304N Mutation in the RNA-Binding Domain in Cultured Hippocampal Neurons (2001) (16)
Intragenic probe used for diagnostics in fragile X families. (1992) (16)
Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS‐5) in a Dutch kindred (2010) (15)
Genetic Factors Influence the Clustering of Depression among Individuals with Lower Socioeconomic Status (2009) (15)
Apparent regression of the CGG repeat in FMR1 to an allele of normal size (1994) (15)
Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome (1992) (15)
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits (2011) (15)
PRENATAL DETECTION OF MAJOR CYSTIC FIBROSIS MUTATION (1989) (15)
CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study (2001) (15)
Angiotensinogen M235T polymorphism and symptoms of depression in a population-based study and a family-based study (2008) (14)
The α-Adducin Gene Is Associated With Macrovascular Complications and Mortality in Patients With Type 2 Diabetes (2006) (14)
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder (2010) (14)
No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. (1994) (14)
Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? (2009) (13)
Genes and pathways differentially expressed in the brains of Fxr2 knockout mice (2008) (13)
Linkage and Tourette syndrome (1991) (13)
An empirical comparison of meta-analyses of published gene-disease associations versus consortium analyses (2009) (13)
Prospects of TAT-Mediated Protein Therapy for Fragile X Syndrome (2003) (13)
The Challenges of Genome-Wide Interaction Studies: Lessons to Learn from the Analysis of HDL Blood Levels (2014) (12)
Pseudo‐orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation (2009) (12)
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes. (2002) (12)
Erratum: Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Nature Genetics (1998) 19 (134-139)) (1998) (12)
Rgs4 mRNA expression is decreased in the brain of Fmr1 knockout mouse. (2005) (12)
Limited size of the fragile X site shown by fluorescence in situ hybridization. (1992) (12)
A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features. (1994) (11)
Biochemical genetics of glycogenosis type II in Brahman cattle. (1993) (11)
Introduction of a FMR1 transgene in the fragile X knockout mouse (2000) (11)
The CGG repeat and the FMR1 gene. (2004) (10)
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability (2018) (10)
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche DTU Orbit (05/11/2017) (2014) (10)
FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics (2003) (10)
A fragile X case with an amplification/deletion mosaic pattern. (2000) (10)
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium (2012) (10)
FBXO 7 Immunoreactivity in >-Synuclein Y Containing Inclusions in Parkinson Disease and Multiple System Atrophy (2013) (10)
Common polymorphisms in the GH/IGF-1 axis contribute to growth in extremely tall subjects. (2011) (10)
The GAB2 gene and the risk of Alzheimer's disease: Replication and meta-analysis (2009) (10)
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction (2001) (10)
A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology. (2012) (10)
Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1. (2002) (10)
Trinucleotide Diseases and Instability (1998) (9)
The Genetic Background of Craniosynostosis Syndromes (1995) (9)
Functions of the fragile X protein. (2002) (9)
Association of heat shock proteins with Parkinson’s disease (2011) (9)
A deletion in DJ-1 and the risk of dementia—a population-based survey (2004) (9)
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly (2009) (9)
Fragile X syndrome in humans and mice. (1996) (8)
The fragile-X syndrome: a growing gene causing familial intellectual disability. (2008) (8)
Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (8)
Twenty loci associated with bone mineral density identified by large-scale meta-analysis of genome-wide association datasets (2009) (8)
Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2 (2012) (8)
Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. (1999) (8)
Specific stimulation of ribosomal RNA synthesis in E. coli by a protein factor (2004) (7)
Meta-analysis of genetic studies in major depressive disorder (2006) (7)
Zebrafish (Danio rerio) as a Model Organism for Dementia (2011) (7)
A rapid and sensitive determination of bacterial rRNA by means of hybridization-competition. (1976) (7)
Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants. (2013) (7)
3 Population-specific genotype imputations using minimac or IMPUTE 2 (2018) (7)
Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands (2006) (7)
Review: The fragile X syndrome: Isolation of the FMR-1 gene and characterization of the fragile X mutation (1992) (7)
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome (1998) (7)
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (Proceedings of the National Academy Sciences of the United States of America (2011) 108, 17, (7119-7124)) (2011) (6)
Terminal strand-switching of E. coli RNA polymerase transcribing a truncated DNA fragment. (1981) (6)
No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease (2010) (6)
The alpha-adducin gene is associated with macrovascular complications and mortality in patients with type 2 diabetes. (2006) (6)
Molecular detection of dynamic mutations (1997) (6)
A Mutation in Codon-142 in Central Areolar Choroidal Dystrophy (1995) (6)
Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring (2003) (6)
Reply to the Letters from Murray et al. and Vianna-Morgante and Costa (2000) (6)
DNA analysis in patients with lissencephaly type I and other cortical dysplasias. (1991) (6)
Expression of Class I Major Histocompatibility Antigens in Adenovirus-Transformed Cells (1986) (6)
CHAPTER 11 – Animal Models of Fragile X Syndrome: Mice and Flies (2006) (6)
The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks. (1993) (6)
Phenotypic Subtypes in Attention Deficit Hyperactivity Disorder in an Isolated Population (2005) (5)
LRRK2 MUTATION ANALYSIS IN PARKINSON DISEASE FAMILIES WITH EVIDENCE OF LINKAGE TO PARKS. Authors' reply (2008) (5)
An animal model for fragilex syndrome (1995) (5)
Mental status and FMR1 gene mutation in females (1996) (5)
SIRT1 genetic variation is related to body mass index and risk of obesity Running title: SIRT1 gene variation, BMI, and obesity (2009) (4)
Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics. (1999) (4)
Meta-analysis of genome-wide association results in > 10.000 individuals for the big five personality traits (2009) (4)
WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene (2019) (4)
In vitro transcription of three different ribosomal RNA cistrons of E. coli; heterogeneity of control regions (1977) (4)
A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study (2016) (4)
Reply to Castiglia et al. (2005) (4)
Insulin-like growth factor-I genotype and birthweight (2002) (4)
A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy (2018) (4)
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin (2009) (4)
An Xbal restriction site polymorphism in the acid α-glucosidase gene (GAA) (1991) (4)
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13 (1991) (4)
Clinical Diversity in Lysosomal Storage Disorders: Molecular and Cellular Aspects (1988) (4)
The CGG repeat and the FMR1 gene. (2013) (4)
Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations (1989) (3)
Reduced bilirubin UDP-glucuronosyltransferase expression in Gilbert syndrome is caused by a sequence abnormality in the promoter region (1996) (3)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (3)
Telomere length variation reduces with age: evidence of survivor effect (2014) (3)
Correction for Schumann et al., Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption (2011) (3)
Loss of FMR1 hypermethylation in somatic cell heterokaryons (2004) (3)
Supplementary Material 5 (2014) (3)
Supplementary Material 7 (2014) (3)
The IL-7Ra Pathway Is Quantitatively and Functionally Altered in CD8 T Cells in Multiple Sclerosis (2012) (3)
A mutation in the RNA polymerase β′ subunit causing depressed ribosomal RNA synthesis in Escherichia coli (2004) (3)
Genetic aspects of polydactyly. (1996) (3)
PRESENCE OF AN ADDITIONAL TA IN THE TATAA BOX OF B-UGT(1) CORRELATES WITH GILBERT-SYNDROME (1994) (3)
Supplementary Material 6 (2014) (3)
Supplementary Material 3 (2015) (3)
Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males (2001) (2)
Expanding Mutations/Genetic Anticipation (2006) (2)
Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8 (1990) (2)
Animal Models for FXTAS (2010) (2)
RFLP for the human retinoic acid receptor gene RAR-beta. (1989) (2)
Isolation of mouse neuritic mRNAs (2006) (2)
Multiple Sclerosis Functionally Altered in CD8 T Cells in Pathway Is Quantitatively and a The IL-7R (2012) (2)
HindIII/EcoRI polymorphism in the GAA gene. (1990) (2)
A polymorphism in the gene for insulin-like growth factor-I: Functional properties and risk for type 2 diabetes mellitus and myocardial infarction (2000) (2)
Reply to Stephan et al. (2008) (2)
Fragile X-Linked Mental Retardation (2006) (2)
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration (2006) (1)
Supplementary Material 15 (2013) (1)
Abundant kif21b is associated with accelerated progression in neurodegenerative diseases (2014) (1)
A study of ADHD in a genetic isolate (2000) (1)
Genetic Loci In fl uencing Myocardial Mass (2016) (1)
The role of adiposity in cardiometabolic traits (2013) (1)
Supplementary Material 9 (2013) (1)
Corrigendum to “Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice” [Behav. Brain Res. 117 (2000) 127–136] (2001) (1)
Supplementary Material 4 (2015) (1)
Heritability and Determinants of Intraocular Pressure in an Isolated Population in the Netherlands (2006) (1)
[A large-scale diagnostic program for the fragile X syndrome among the mentally handicapped. I. An epidemiologic survey]. (1998) (1)
Chapter 5.3 Trinucleotide repeat disorders (1999) (1)
Phosphosphingolipid levels are associated with cognitive function and level of education in healthy subjects (2012) (1)
MRI as a tool to study brain structure from mouse models for mental retardation (1998) (1)
University of Groningen A Genome-Wide Screen for Interactions Reveals a New Locus on 4 p 15 Modifying the Effect of Waist-to-Hip Ratio on Total Cholesterol (2011) (1)
Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice (2004) (1)
Heritability of carotid artery plaque in an isolated population (2004) (0)
FREQUENCY AND HERITABILITY OF THE METABOLIC SYNDROME IN A GENETICALLY ISOLATED POPULATION: 5A.2 (2004) (0)
Molecular biological and clinical psychiatric study of the Gilles de la Tourette syndrome (2001) (0)
Mental Status ofFemales withan FMR1GeneFullMutation (1996) (0)
AdultandInfantile Glycogenosis Type11inOneFamily, Explained byAllelic Diversity (1990) (0)
presentador-MILD COGNITIVE IMPAIRMENT AND RESTING-STATE FUNCTIONAL CONNECTIVITY CHANGES IN PARKINSON ’ S DISEASE (2014) (0)
NPHP4 Variants are Associated with Congenital Heart Malformations and Heterotaxy (2011) (0)
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium (2014) (0)
Faculty Opinions recommendation of Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells. (2002) (0)
Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval (2015) (0)
Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2 (2012) (0)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (0)
Serum High-Density Lipoprotein Cholesterol Levels Epistatic Effect of Cholesteryl Ester Transfer Protein and Hepatic Lipase on (2007) (0)
The genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome related traits Running Title: Shared heritability of adiponectin and the MetS (2010) (0)
Migraine is not associated with enhanced atherosclerosis 7 (2015) (0)
Edinburgh Research Explorer Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2018) (0)
Reply by the authors (2010) (0)
Common DNA variants predict tall stature in Europeans (2013) (0)
O2-02-03 Linkage-based full genome scan for late onset Alzheimer’s disease in a genetically isolated population (2006) (0)
Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant (2012) (0)
Computer-Simulations on Families with Gilles-De-La-Tourette Syndrome (1993) (0)
Method for predicting the color of the iris (2007) (0)
Supplementary Material (nature09270-s1) (2012) (0)
KIF1B, the First Neuronally Expressed Gene Associated with Multiple Sclerosis (2009) (0)
P4-162 Heritability of cognitive function in later adult life in a single extended pedigree (2004) (0)
GENETICS: ROLE OF RARE AND LOW FREQUENCY VARIANTS IN ALZHEIMER’S DISEASE O3-13-01 WHOLEGENOMESEQUENCINGOFLATE-ONSET ALZHEIMER’S DISEASE PATIENTS FROM GENETIC ISOLATE (2015) (0)
S202 A GENOME WIDE ASSOCIATION STUDY ON CHRONIC WIDESPREAD PAIN: EVIDENCE FOR INVOLVEMENT OF THE 5P15.2 REGION (2011) (0)
Molecular background of X-linked mental retardation (2001) (0)
2.102 Sub-cellular localization studies of LRRK2, a brain-specific protein (2007) (0)
Molecular basis of neurogenetic diseases (2001) (0)
P1-309 Evidence for interaction between the Cholesteryl ester transfer protein (CETP) gene and APOE in late onset Alzheimer’s disease (2006) (0)
A mouse model for fragile-X mental retardation (1995) (0)
Is the Shape of the Optic Disc Heritable (2006) (0)
Genome-Wide Association Study of Gilles de la Tourette Syndrome (2012) (0)
Parent of origin effect in multiple sclerosis in a genetic isolate in the Netherlands (2007) (0)
Corrigendum: Linkage and Genome‐wide Association Analysis of Obesity‐related Phenotypes: Association of Weight With the MGAT1 Gene (2010) (0)
Dinucleotide repeat polymorphism at D11S994 locus. (1993) (0)
THE INFLUENCE OF GENETIC AND ENVIRONMENTAL FACTORS ON BLOOD PRESSURE VARIANCE IN A GENETICALLY ISOLATED POPULATION: P2.224 (2004) (0)
748 Frontal lobe dementia; linkage to chromosome 17 in two large Dutch families (1996) (0)
Whole genome sequencing of late-onset Alzheimer's disease patients from genetic isolate (2015) (0)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
' s response to reviews Title : Lack of association of two common polymorphisms on 9 p 21 with risk of coronary heart disease and myocardial infarction (2008) (0)
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability (2018) (0)
Molecular basis of complex diseases (2001) (0)
The molecular basis of transformation by polyoma virus middle-T (1983) (0)
Intelligence profile of females with the fra(X) mutation compared to sisters without (1995) (0)
A framework for the detection of de novo mutations in family-based sequencing data (2016) (0)
Chapter 18 – Screening for Fragile X Syndrome (2006) (0)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
MOLECULAR INTERACTIONS IN THE INITIATION OF rRNA SYNTHESIS IN PROKARYOTES (1979) (0)
Members of the fragile X gene family exhibit genetic and phenotypic interaction in mammals (2006) (0)
Study of Inbreeding of Age–Related Macular Degeneration in a Genetically Isolated Population (2005) (0)
Deletions in the CGG repeat region of the FMR1 gene (1994) (0)
Expression of MHC genes in adenovirus-tranformed cells (1984) (0)
An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA). (1991) (0)
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate (2014) (0)
The Effect of the Apolipoprotein E Gene on Optic Disc Parameters (2009) (0)
Integration techniques for modern bioinformatics workflows (2018) (0)
Is Retinal Nerve Fiber Layer Thickness Related to Cognitive Function in Healthy Individuals (2007) (0)
[From gene to disease; fragile X-syndrome: hereditary mental retardation due to a developmental gene]. (2001) (0)
disease : the Rotterdam study N-acetyltransferase-2 polymorphism in Parkinson ' s (1999) (0)
Syndrome of the month The fragile X syndrome (0)
Genome-wide association and functional follow-up reveals new loci for kidney function | NOVA. The University of Newcastle's Digital Repository (2012) (0)
Molecular and cell biological aspects of hand development (2001) (0)
Reply to Drs. Dreesen, Smits, and Brunner (1991) (0)
Fragile X syndrome and FMR1 (2007) (0)
2.117 Clinical spectrum of a large Sardinian family with Parkinson's disease (2007) (0)
A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy (2018) (0)
O3-02-07 Linkage analysis for AD using amyloid beta 42 levels shows evidence for a novel AD gene on chromosome 19 (2004) (0)
Genome-wide linkage screen of cognitive function identifies susceptible chromosomal regions (2010) (0)
Genetics Identification of a Candidate Gene for Astigmatism (2013) (0)
A study of the genetic susceptibility to cerebral white matter lesions in patients with hypertension (2001) (0)
University of Groningen Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma (2012) (0)
Faculty Opinions recommendation of The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. (2001) (0)
Characterization of the fragile X knockout mouse (1996) (0)
PARK6 is a major locus in early-onset parkinsonism (2001) (0)
GENETICS IN CLINICAL PRACTICE Guidelines for the diagnosis of fragile X syndrome (0)
The Fragile X Syndrome: A model for mental retardation (2000) (0)
Subcellular localization of FMRP and its mutated form I304N in PC12 cells and rat hippocampal neurons (1998) (0)
Assessment of behavioral deficits in Fmr 1 knockout mice (1995) (0)
Association of heat shock proteins with all-cause mortality (2012) (0)
G.P.1.13 A new locus for distal hereditary motor neuronopathy maps to chromosome 16p (2008) (0)
A study of the genetics of hypertension (2000) (0)
[Fragile X syndrome: basal defect, diagnosis and genetic counseling]. (1992) (0)
Familial aggregation of ischemic stroke in a genetically isolated population (2004) (0)

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