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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34053-7
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- Article
Tryptophan Metabolites, Cytokines, and Fatty Acid Binding Protein 2 in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.
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- Biomedicines, 2021, v. 9, n. 11, p. 1724, doi. 10.3390/biomedicines9111724
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- Article
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
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- Genes, 2021, v. 12, n. 4, p. 581, doi. 10.3390/genes12040581
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- Article
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
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- Cell Death Discovery, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41420-021-00414-2
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- Article
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1190, doi. 10.3390/ijms22031190
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- Article
Epilepsy and movement disorders in CDG: Report on the oldest‐known MOGS‐CDG patient.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 219, doi. 10.1002/ajmg.a.61916
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- Article
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13148-020-00925-2
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- Article
ATP8A2-related disorders as recessive cerebellar ataxia.
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- Journal of Neurology, 2020, v. 267, n. 1, p. 203, doi. 10.1007/s00415-019-09579-4
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- Article
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123092
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- Article
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-41
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- Article
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1604, doi. 10.1002/ajmg.a.35419
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- Article
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 734, doi. 10.1038/ejhg.2012.7
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- Article
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 706, doi. 10.1002/ajmg.a.33884
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- Article
Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up.
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- Journal of Child Neurology, 2010, v. 25, n. 11, p. 1419, doi. 10.1177/0883073810370477
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- Article
Neurofibromatosis type 1 and infantile spasms.
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- Child's Nervous System, 2009, v. 25, n. 2, p. 211, doi. 10.1007/s00381-008-0706-5
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- Article
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
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- 2008
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- Correction notice
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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- 2008
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- Correction notice
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5
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- Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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- Journal of Human Genetics, 2007, v. 52, n. 12, p. 1011, doi. 10.1007/s10038-007-0208-4
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- Article
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
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- Nature Genetics, 2007, v. 39, n. 8, p. 1007, doi. 10.1038/ng2073
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- Article
A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease.
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- Neurogenetics, 2007, v. 8, n. 1, p. 57, doi. 10.1007/s10048-006-0065-x
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- Article
Reciprocal translocations: a trap for cytogenetists?
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- Human Genetics, 2005, v. 117, n. 6, p. 571, doi. 10.1007/s00439-005-1324-x
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- Article
A 2.3?Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 586, doi. 10.1038/sj.ejhg.5201369
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- Article
RE: “PARITY AND THE RISK OF DOWN’S SYNDROME”.
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- American Journal of Epidemiology, 2004, v. 160, n. 6, p. 610, doi. 10.1093/aje/kwh241
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- Article
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.
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- Human Genetics, 2004, v. 115, n. 1, p. 69, doi. 10.1007/s00439-004-1101-2
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- Article
Toward the Effective Surveillance of Hypospadias.
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- Environmental Health Perspectives, 2004, v. 112, n. 3, p. 398, doi. 10.1289/ehp.6398
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- Article
Mutational spectrum of the CTNS gene in Italy.
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- European Journal of Human Genetics, 2003, v. 11, n. 7, p. 503, doi. 10.1038/sj.ejhg.5200993
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- Article
Novel Keratin 17 Mutations in Pachyonychia Congenita Type 2.
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- Journal of Investigative Dermatology, 2001, v. 116, n. 5, p. 806, doi. 10.1046/j.1523-1747.2001.01335.x
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- Article
Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries.
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- Prenatal Diagnosis, 2000, v. 20, n. 11, p. 870, doi. 10.1002/1097-0223(200011)20:11<870::AID-PD940>3.0.CO;2-J
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- Article
Complex Segregation Analysis in a Sample of Consecutive Newborns with Cleft Lip with or without Cleft Palate in Italy.
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- Human Heredity, 1995, v. 45, n. 3, p. 157, doi. 10.1159/000154277
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- Article
Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality.
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- Clinical Genetics, 1984, v. 25, n. 3, p. 242, doi. 10.1111/j.1399-0004.1984.tb01984.x
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- Article
Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome.
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- Clinical Genetics, 1981, v. 20, n. 5, p. 347, doi. 10.1111/j.1399-0004.1981.tb01046.x
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- Article
Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11←q13) segment of chromosome 2.
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- Clinical Genetics, 1980, v. 18, n. 6, p. 402, doi. 10.1111/j.1399-0004.1980.tb01783.x
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- Article