181(top 1%)
PR articles
18.5K(top 1%)
PR citations
64(top 1%)
PR h-index
72(top 1%)
h-index
202
documents
23.9K
doc citations
3.1K
citing journals
100
times ranked

Publications

181 peer-reviewed articles • 19,865 peer-reviewed citations • Sorted by year • Download PDF (PDF by citations)
Sort: Year | Citations
#ArticleIFCitationsLinks
1Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
Communications Biology, 2022, 5, 1-20
3.135Citations (PDF)
2Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color
Science Advances, 2021
8.277Citations (PDF)
3Genetic insights into biological mechanisms governing human ovarian ageing
Nature, 2021, 596, 393-397
31.8408Citations (PDF)
4Associations of autozygosity with a broad range of human phenotypes
Nature Communications, 2019, 10, 1-17
11.0122Citations (PDF)
5Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels
Nature Genetics, 2019, 51, 1459-1474
14.2398Citations (PDF)
6High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function
Human Reproduction, 2019, 34, 574-583
0.946Citations (PDF)
7A catalog of genetic loci associated with kidney function from analyses of a million individuals
Nature Genetics, 2019, 51, 957-972
14.2869Citations (PDF)
8Factors associated with food liking and their relationship with metabolic traits in Italian cohorts
Food Quality and Preference, 2019, 75, 64-70
4.013Citations (PDF)
9People also looked at
Frontiers in Medicine, 2019, 6, 448594
1.723Citations (PDF)
10A bird’s-eye view of Italian genomic variation through whole-genome sequencing
European Journal of Human Genetics, 2019, 28, 435-444
2.138Citations (PDF)
11Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
Nature Genetics, 2018, 50, 652-656
14.2106Citations (PDF)
12Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective
Annals of Human Biology, 2018, 45, 44-56
1.023Citations (PDF)
13Journal of the American Society of Nephrology
Journal of the American Society of Nephrology: JASN, 2018, 29, 335-348
0.341Citations (PDF)
14Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation
Nature Communications, 2018, 9, 1-14
11.0272Citations (PDF)
15Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
Nature Genetics, 2018, 50, 1412-1425
14.21,382Citations (PDF)
16MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.
Journal of Clinical Endocrinology and Metabolism, 2017, 102, 576-582
3.376Citations (PDF)
17Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk
Nature Genetics, 2017, 49, 403-415
14.2586Citations (PDF)
18COL6A5 variants in familial neuropathic chronic itch.
Brain, 2017, 140, 555-567
6.033Citations (PDF)
19Clinical significance of somatic mutation in unexplained blood cytopenia
Blood, 2017, 129, 3371-3378
5.3470Citations (PDF)
20Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Nature Genetics, 2017, 49, 834-841
14.2555Citations (PDF)
211000 Genomes-based meta-analysis identifies 10 novel loci for kidney function
Scientific Reports, 2017, 7, 1-11
2.7113Citations (PDF)
22Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
American Journal of Human Genetics, 2017, 100, 865-884
4.5181Citations (PDF)
23Journal of the American Society of Nephrology
Journal of the American Society of Nephrology: JASN, 2017, 28, 981-994
0.344Citations (PDF)
24Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney
Hypertension, 2017, 70, e4-e19
4.8148Citations (PDF)
25Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
Nature Communications, 2017, 8, 1-7
11.081Citations (PDF)
26Top bar navigation
Frontiers in Surgery, 2017, 4, 283091
1.035Citations (PDF)
27Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin
PLoS ONE, 2016, 11, e0166628
1.55Citations (PDF)
28A Genome-Wide Association Study in isolated populations reveals new genes associated to common food likings
Reviews in Endocrine and Metabolic Disorders, 2016, 17, 209-219
5.133Citations (PDF)
29Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
Nature Genetics, 2016, 48, 1303-1312
14.268Citations (PDF)
30A reference panel of 64,976 haplotypes for genotype imputation
Nature Genetics, 2016, 48, 1279-1283
14.23,079Citations (PDF)
31Genome-wide analysis identifies 12 loci influencing human reproductive behavior
Nature Genetics, 2016, 48, 1462-1472
14.2333Citations (PDF)
32Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Nature Communications, 2016, 7, 1-19
11.0516Citations (PDF)
33Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine
Pflugers Archiv European Journal of Physiology, 2016, 469, 91-103
1.729Citations (PDF)
34Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies
PLoS Genetics, 2016, 12, e1005874
2.268Citations (PDF)
35Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair
Obstetrical and Gynecological Survey, 2015, 70, 758
0.11Citations (PDF)
36Whole-genome sequence-based analysis of thyroid function
Nature Communications, 2015, 6, 1-11
11.083Citations (PDF)
37Rare coding variants and X-linked loci associated with age at menarche
Nature Communications, 2015, 6, 1-8
11.039Citations (PDF)
38Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
Nature Communications, 2015, 6, 1-16
11.0193Citations (PDF)
39Directional dominance on stature and cognition in diverse human populations
Nature, 2015, 523, 459-462
31.8201Citations (PDF)
40Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking
European Journal of Human Genetics, 2015, 23, 1717-1722
2.115Citations (PDF)
41Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Nature Genetics, 2015, 47, 1294-1303
14.2434Citations (PDF)
42Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation
Nature Genetics, 2015, 47, 1282-1293
14.2348Citations (PDF)
43Multicohort analysis of the maternal age effect on recombination
Nature Communications, 2015, 6, 1-10
11.041Citations (PDF)
44Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
Nature Genetics, 2015, 47, 1272-1281
14.2372Citations (PDF)
45Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans
PLoS ONE, 2015, 10, e0119752
1.573Citations (PDF)
46Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between TAS2R43 Variants and Coffee Liking
PLoS ONE, 2014, 9, e92065
1.550Citations (PDF)
47Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease
PLoS Genetics, 2014, 10, e1004123
2.2184Citations (PDF)
48A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness
PLoS Genetics, 2014, 10, e1004234
2.2641Citations (PDF)
49Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
Nature Communications, 2014, 5, 1-11
11.0252Citations (PDF)
50Journal of the American Society of Nephrology
Journal of the American Society of Nephrology: JASN, 2014, 25, 1869-82
0.398Citations (PDF)
51The A736V TMPRSS6 polymorphism influences hepcidin and iron metabolism in chronic hemodialysis patients: TMPRSS6 and hepcidin in hemodialysis
BMC Nephrology, 2013, 14, 1-9
1.522Citations (PDF)
52Journal of the American Society of Nephrology
Journal of the American Society of Nephrology: JASN, 2013, 24, 2105-17
0.338Citations (PDF)
53Identification of TRIM22 single nucleotide polymorphisms associated with loss of inhibition of HIV-1 transcription and advanced HIV-1 disease
Aids, 2013, 27, 2335
1.519Citations (PDF)
54A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function
PLoS Genetics, 2013, 9, e1003266
2.2220Citations (PDF)
55A genome-wide association study of early menopause and the combined impact of identified variants
Human Molecular Genetics, 2013, 22, 1465-1472
2.1124Citations (PDF)
56Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.
American Journal of Epidemiology, 2013, 178, 451-60
2.457Citations (PDF)
57Age- And Sex-Related Variations in Platelet Count in Italy: A Proposal of Reference Ranges Based on 40987 Subjects' Data
PLoS ONE, 2013, 8, e54289
1.5237Citations (PDF)
58Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans
PLoS ONE, 2013, 8, e69206
1.511Citations (PDF)
59Iron Status Independently Associates With Bone Mineral Density At Population Level. Insights From The Val Borbera Study
Blood, 2013, 122, 4672-4672
5.30Citations (PDF)
60Evidence of Inbreeding Depression on Human Height
PLoS Genetics, 2012, 8, e1002655
2.299Citations (PDF)
61Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function
PLoS Genetics, 2012, 8, e1002584
2.2188Citations (PDF)
62Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Human Molecular Genetics, 2012, 21, 5329-43
2.167Citations (PDF)
63Serum levels of the hepcidin-20 isoform in a large general population: The Val Borbera study
Journal of Proteomics, 2012, 76, 28-35
1.930Citations (PDF)
64Seventy-five genetic loci influencing the human red blood cell
Nature, 2012, 492, 369-375
31.8346Citations (PDF)
65Genome-wide meta-analysis of common variant differences between men and women
Human Molecular Genetics, 2012, 21, 4805-4815
2.139Citations (PDF)
66Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
Nature Genetics, 2012, 44, 260-268
14.2355Citations (PDF)
67Increased Serum Hepcidin Levels in Subjects with the Metabolic Syndrome: A Population Study
PLoS ONE, 2012, 7, e48250
1.575Citations (PDF)
68Small effective population size and genetic homogeneity in the Val Borbera isolate
European Journal of Human Genetics, 2012, 21, 89-94
2.133Citations (PDF)
69Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
European Journal of Human Genetics, 2012, 21, 659-665
2.168Citations (PDF)
70Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
Nature Genetics, 2012, 45, 145-154
14.2806Citations (PDF)
71Forebrain Deletion of αGDI in Adult Mice Worsens the Pre-Synaptic Deficit at Cortico-Lateral Amygdala Synaptic Connections
PLoS ONE, 2012, 7, e29763
1.518Citations (PDF)
72New gene functions in megakaryopoiesis and platelet formation
Nature, 2011, 480, 201-208
31.8433Citations (PDF)
73General population low-count CLL-like MBL persists over time without clinical progression, although carrying the same cytogenetic abnormalities of CLL Free
Blood, 2011, 118, 6618-6625
5.3144Citations (PDF)
74Computer-based genealogy reconstruction in founder populations
Journal of Biomedical Informatics, 2011, 44, 997-1003
3.19Citations (PDF)
75Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations
Journal of Medical Genetics, 2011, 48, 629-634
2.289Citations (PDF)
76The POF1B candidate gene for premature ovarian failure regulates epithelial polarity
Journal of Cell Science, 2011, 124, 3356-3368
1.831Citations (PDF)
77Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
Nature Genetics, 2011, 43, 1005-1011
14.2427Citations (PDF)
78Multiple Loci Are Associated with White Blood Cell Phenotypes
PLoS Genetics, 2011, 7, e1002113
2.2113Citations (PDF)
79Serum Hepcidin Levels Correlate with Phenotypes of the Metabolic Syndrome At Population Level Free
Blood, 2011, 118, 348-348
5.310Citations (PDF)
80Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
American Journal of Human Genetics, 2010, 86, 185-195
4.5246Citations (PDF)
81Temporal gene expression profile of the hippocampus following trace fear conditioning
Brain Research, 2010, 1308, 14-23
1.917Citations (PDF)
82Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
Nature Genetics, 2010, 42, 1077-1085
14.2485Citations (PDF)
83Normal serum concentrations of anti-Müllerian hormone in women with regular menstrual cycles
Reproductive BioMedicine Online, 2010, 21, 463-469
1.996Citations (PDF)
84CLL-Like MBL In the General Population Persist Over Time, without Clinical Progression, Though Carrying the Same Cytogenetic Abnormalities of CLL
Blood, 2010, 116, 2440-2440
5.31Citations (PDF)
85Genetic Structure of Europeans: A View from the North–East
PLoS ONE, 2009, 4, e5472
1.5301Citations (PDF)
86Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes
PLoS ONE, 2009, 4, e7554
1.539Citations (PDF)
87A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure.
Human Reproduction, 2009, 24, 2023-8
0.934Citations (PDF)
88Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.
Human Molecular Genetics, 2009, 18, 105-17
2.155Citations (PDF)
89Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome
Journal of Medical Genetics, 2009, 46, 585-592
2.2103Citations (PDF)
90Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene†
Annals of Neurology, 2009, 66, 792-798
4.756Citations (PDF)
91BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein
Human Mutation, 2009, 30, 804-810
1.0141Citations (PDF)
92The immunoglobulin gene repertoire of low-count chronic lymphocytic leukemia (CLL)–like monoclonal B lymphocytosis is different from CLL: diagnostic implications for clinical monitoring Free
Blood, 2009, 114, 26-32
5.3131Citations (PDF)
93A 12Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
European Journal of Medical Genetics, 2008, 51, 631-638
1.372Citations (PDF)
94Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.
Human Molecular Genetics, 2008, 17, 3776-83
2.1126Citations (PDF)
95Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?
PLoS ONE, 2008, 3, e1460
1.58Citations (PDF)
96The Immunoglobulin Gene Repertoire of Low-Count CLL-Like MBL Is Different from CLL: Diagnostic Considerations and Implications for Clinical Monitoring
Blood, 2008, 112, 779-779
5.30Citations (PDF)
97Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea.
Human Reproduction, 2007, 23, 216-21
0.952Citations (PDF)
98X Chromosome and Ovarian Failure
Seminars in Reproductive Medicine, 2007, 25, 264-271
1.259Citations (PDF)
99Spatial and temporal expression of , a gene expressed in epithelia
Gene Expression Patterns, 2007, 7, 529-534
0.814Citations (PDF)
100Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis
Human Genetics, 2007, 121, 441-450
1.937Citations (PDF)
101Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.
Human Reproduction, 2006, 21, 952-7
0.9167Citations (PDF)
102X-linked premature ovarian failure: a complex disease
Current Opinion in Genetics and Development, 2006, 16, 293-300
2.486Citations (PDF)
103Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients†
American Journal of Medical Genetics, Part A, 2006, 140A, 1349-1351
1.116Citations (PDF)
104Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.
Human Reproduction, 2006, 21, 1477-83
0.9176Citations (PDF)
105Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.
Human Reproduction, 2004, 19, 2759-66
0.993Citations (PDF)
106Mice deficient for the synaptic vesicle protein Rab3a show impaired spatial reversal learning and increased explorative activity but none of the behavioral changes shown by mice deficient for the Rab3a regulator Gdi1
European Journal of Neuroscience, 2004, 19, 1895-1905
1.756Citations (PDF)
107The screening for X-linked Emery–Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant
European Journal of Neurology, 2004, 11, 531-534
2.39Citations (PDF)
108DNA variants in the human RAB3A gene are not associated with autism
Genes, Brain and Behavior, 2004, 3, 123-124
1.30Citations (PDF)
109Dominant lamin A/C gene mutations can be associated with muscular dystrophy and peripheral neuropathy
Journal of the Peripheral Nervous System, 2004, 9, 113
1.91Citations (PDF)
110A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28
European Journal of Human Genetics, 2004, 12, 829-834
2.146Citations (PDF)
111Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study
Molecular Genetics and Metabolism, 2003, 80, 408-411
0.512Citations (PDF)
112Cardiac features of Emery–Dreifuss muscular dystrophy caused by lamin A/C gene mutations
European Heart Journal, 2003, 24, 2227-2236
7.2111Citations (PDF)
113Familial periventricular heterotopiaMissense and distal truncating mutations of the FLN1 gene
Neurology, 2002, 58, 916-921
0.782Citations (PDF)
114Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.
Human Molecular Genetics, 2002, 11, 2567-80
2.1102Citations (PDF)
115Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy
Neuromuscular Disorders, 2002, 12, 958-963
0.355Citations (PDF)
116A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy
Neuromuscular Disorders, 2001, 11, 411-413
0.338Citations (PDF)
117Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family
American Journal of Medical Genetics, Part A, 2000, 94, 376-382
1.113Citations (PDF)
118In search of the MRX genes
American Journal of Medical Genetics, Part A, 2000, 97, 221-227
1.117Citations (PDF)
119Barth-Syndrom
Monatsschrift Fur Kinderheilkunde, 2000, 148, 246-250
0.21Citations (PDF)
120Emerin presence in platelets
Acta Neuropathologica, 2000, 100, 291-298
6.012Citations (PDF)
121X Chromosome Genes and Premature Ovarian Failure
Seminars in Reproductive Medicine, 2000, 18, 051-058
1.223Citations (PDF)
122Emerin expression at the early stages of myogenic differentiation
Differentiation, 2000, 66, 208-217
2.030Citations (PDF)
123Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy.
Neuromuscular Disorders, 2000, 10, 567-71
0.313Citations (PDF)
124X-linked non-specific mental retardation
Current Opinion in Genetics and Development, 2000, 10, 280-285
2.425Citations (PDF)
125Neurite Extension Occurs in the Absence of Regulated Exocytosis in PC12 Subclones
Molecular Biology of the Cell, 1999, 10, 2919-31
1.843Citations (PDF)
126Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Nature Genetics, 1999, 21, 285-288
14.21,346Citations (PDF)
127Muscular dystrophies, alterations in a limited number of cellular pathways?
Current Opinion in Genetics and Development, 1999, 9, 275-282
2.422Citations (PDF)
128Selection and Mapping of Replication Origins from a 500-kb Region of the Human X Chromosome and Their Relationship to Gene Expression
Genomics, 1999, 62, 11-20
2.012Citations (PDF)
129Mutations in GDI1 are responsible for X-linked non-specific mental retardation
Nature Genetics, 1998, 19, 134-139
14.2322Citations (PDF)
130Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers
Neuromuscular Disorders, 1998, 8, 67-71
0.346Citations (PDF)
131Immunocytochemical detection of emerin within the nuclear matrix
Neuromuscular Disorders, 1998, 8, 338-344
0.344Citations (PDF)
132A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility
American Journal of Human Genetics, 1998, 62, 533-541
4.5256Citations (PDF)
133X Chromosome Inactivation in Carriers of Barth Syndrome
American Journal of Human Genetics, 1998, 63, 1457-1463
4.575Citations (PDF)
134Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)
Journal of the Neurological Sciences, 1998, 159, 88-93
1.3122Citations (PDF)
135Non-Specific X-Linked Semidominant Mental Retardation by Mutations in a Rab GDP-Dissociation Inhibitor
Human Molecular Genetics, 1998, 7, 1311-1315
2.168Citations (PDF)
136Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
Human Molecular Genetics, 1997, 6, 2257-64
2.1144Citations (PDF)
137Eleven X Chromosome Breakpoints Associated with Premature Ovarian Failure (POF) Map to a 15-Mb YAC Contig Spanning Xq21
Genomics, 1997, 40, 123-131
2.0137Citations (PDF)
138The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
American Journal of Human Genetics, 1997, 61, 862-7
4.5244Citations (PDF)
139X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies
Clinical Genetics, 1997, 52, 155-161
1.511Citations (PDF)
140Selection and Fine Mapping of Chromosome-Specific cDNAs: Application to Human Chromosome 1
Genomics, 1996, 38, 149-154
2.05Citations (PDF)
141A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor.
Proceedings of the National Academy of Sciences of the United States of America, 1996, 93, 674-678
5.3171Citations (PDF)
142An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells.
Proceedings of the National Academy of Sciences of the United States of America, 1996, 93, 695-699
5.350Citations (PDF)
143A novel X-linked gene, G4.5. is responsible for Barth syndrome
Nature Genetics, 1996, 12, 385-389
14.2777Citations (PDF)
144FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure
Clinical Genetics, 1996, 50, 267-269
1.517Citations (PDF)
145Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
Human Molecular Genetics, 1995, 4, 1859-1863
2.196Citations (PDF)
146Sequence and gene content in 52 kb including and centromeric to the G6PD gene in Xq28
DNA Sequence, 1995, 6, 1-11
0.511Citations (PDF)
147A Comparative Transcriptional Map of a Region of 250 kb on the Human and Mouse X Chromosome between the G6PD and the FLN1 Genes
Genomics, 1995, 28, 377-382
2.08Citations (PDF)
148Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae.
Human Molecular Genetics, 1994, 3, 1061-7
2.145Citations (PDF)
149Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
Nature Genetics, 1994, 8, 323-327
14.2912Citations (PDF)
150Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena
British Journal of Haematology, 1994, 87, 209-211
1.68Citations (PDF)
151The Exon-Intron Organization of the Human X-Linked Gene (FLN1) Encoding Actin-Binding Protein 280
Genomics, 1994, 21, 71-76
2.030Citations (PDF)
152Comparative Mapping of the Actin-Binding Protein 280 Genes in Human and Mouse
Genomics, 1994, 21, 428-430
2.021Citations (PDF)
153The use of recombinant human growth hormone for radioiodination and standard preparation in radioimmunoassay
Journal of Immunological Methods, 1993, 159, 269-274
1.022Citations (PDF)
154Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7.
Human Molecular Genetics, 1993, 2, 761-6
2.179Citations (PDF)
155Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.
Proceedings of the National Academy of Sciences of the United States of America, 1993, 90, 10977-10981
5.367Citations (PDF)
156Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28.
Nucleic Acids Research, 1992, 20, 727-33
11.249Citations (PDF)
157An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome.
Human Molecular Genetics, 1992, 1, 275-80
2.126Citations (PDF)
158Identification and characterization of a new gene in the human Xq28 region.
Human Molecular Genetics, 1992, 1, 269-73
2.123Citations (PDF)
159The CpG island in the 5′ region of the gene of man and mouse
Gene, 1991, 102, 197-203
1.646Citations (PDF)
160The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein lamp2 and assigns the gene to Xq24
Genomics, 1991, 9, 551-554
2.016Citations (PDF)
161Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
Proceedings of the National Academy of Sciences of the United States of America, 1991, 88, 8302-8306
5.376Citations (PDF)
162Is DNA methylation of X chromosome genes stable during aging?
Somatic Cell and Molecular Genetics, 1991, 17, 101-103
1.32Citations (PDF)
163Molecular cloning and analysis of the fragile X region in man.
Nucleic Acids Research, 1991, 19, 2567-72
11.250Citations (PDF)
164Stability of DNA methylation of X-chromosome genes during aging
Somatic Cell and Molecular Genetics, 1990, 16, 79-84
1.39Citations (PDF)
165Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28
Genomics, 1990, 8, 664-670
2.024Citations (PDF)
166Linkage and sequence conservation of the X-linked genes DXS253E (P3) and DXS254E (GdX) in mouse and man
Genomics, 1990, 7, 453-457
2.020Citations (PDF)
167CpG islands of the X chromosome are gene associated.
Nucleic Acids Research, 1988, 16, 9527-43
11.249Citations (PDF)
168A "housekeeping" gene on the X chromosome encodes a protein similar to ubiquitin.
Proceedings of the National Academy of Sciences of the United States of America, 1988, 85, 851-855
5.381Citations (PDF)
169Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA.
EMBO Journal, 1988, 7, 401-6
5.2104Citations (PDF)
170Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.
Nucleic Acids Research, 1986, 14, 2511-22
11.2248Citations (PDF)
171Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5′ non-coding region
Nucleic Acids Research, 1986, 14, 7821-7821
11.21Citations (PDF)
172Tissue-specific levels of human glucose-6-phosphate dehydrogenase correlate with methylation of specific sites at the 3' end of the gene.
Proceedings of the National Academy of Sciences of the United States of America, 1985, 82, 1465-1469
5.375Citations (PDF)
173Specific methylation pattern at the 3′ end of the human housekeeping gene for glucose 6‐phosphate dehydrogenase.
EMBO Journal, 1984, 3, 1987-95
5.277Citations (PDF)
174Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensation.
Nucleic Acids Research, 1984, 12, 9333-48
11.295Citations (PDF)
175Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site.
Proceedings of the National Academy of Sciences of the United States of America, 1984, 81, 7855-7859
5.389Citations (PDF)
176Regulation of glucose 6-phosphate dehydrogenase expression in CHO-human fibroblast somatic cell hybrids
Somatic Cell Genetics, 1983, 9, 429-443
1.722Citations (PDF)
177cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322
Nature, 1981, 294, 778-780
31.860Citations (PDF)
178Processing of ribosomal RNA in a temperature sensitive mutant of BHK cells
Nucleic Acids and Protein Synthesis, 1976, 425, 409-418
1.225Citations (PDF)
179SV40-transformed cells with temperature-dependent serum requirements
Cell, 1975, 4, 255-262
23.821Citations (PDF)
180Complementation of a defect in the production of ribosomal RNA in somatic cell hybrids
Nature, 1974, 248, 411-413
31.824Citations (PDF)
181A Temperature-Sensitive Mutation Affecting 28S Ribosomal RNA Production in Mammalian Cells
Proceedings of the National Academy of Sciences of the United States of America, 1973, 70, 1273-1277
5.386Citations (PDF)