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Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript

Bioinformatics, 2012-12, Vol.28 (24), p.3232-3239

2012

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Identification and characterization of novel ETV4 splice variants in prostate cancer

Scientific reports, 2023-03, Vol.13 (1), p.5267-5267, Article 5267

2023

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Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Kidney international, 2004-05, Vol.65 (5), p.1598-1603

2004

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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Human mutation, 2004-08, Vol.24 (2), p.172-177

2004

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Rett syndrome: the complex nature of a monogenic disease

Journal of molecular medicine (Berlin, Germany), 2003-06, Vol.81 (6), p.346-354

2003

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Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature

International journal of fertility & sterility, 2016-01, Vol.9 (4), p.581-585

2016

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Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Journal of human genetics, 2007-12, Vol.52 (12), p.1011-1017

2007

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Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Nephrology, dialysis, transplantation, 2006-03, Vol.21 (3), p.665-671

2006

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Is Rett syndrome a loss-of-imprinting disorder?

Nature genetics, 2005-01, Vol.37 (1), p.10-11

2005

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Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study

Circulation. Cardiovascular genetics, 2014-12, Vol.7 (6), p.741-750

2014

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Human molecular genetics, 2005-07, Vol.14 (14), p.1935-1946

2005

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Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Prenatal diagnosis, 2022-12, Vol.42 (13), p.1575-1586

2022

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Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations

Oncotarget, 2016-05, Vol.7 (21), p.30365-30378

2016

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Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)

Obstetrical & gynecological survey, 2023-06, Vol.78 (6), p.318-320

2023

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Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Journal of human genetics, 2008-03, Vol.53 (3), p.285-285

2008

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372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

European journal of medical genetics, 2012-03, Vol.55 (3), p.216-221

2012

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16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems

European journal of medical genetics, 2014-11, Vol.57 (11), p.649-653

2014

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Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

The journal of maternal-fetal & neonatal medicine, 2017-03, Vol.30 (6), p.710-716

2017

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Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGH

American journal of medical genetics. Part A, 2007-04, Vol.143A (8), p.858-865

2007

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Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

British journal of ophthalmology, 2011-05, Vol.95 (5), p.624-626

2011

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An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation

Clinical dysmorphology, 2013-07, Vol.22 (3), p.115-117

2013

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Easy genotyping of complement C3 ‘slow’ and ‘fast’ allotypes by tetra-primer amplification refractory mutation system PCR

Molecular and cellular probes, 2010-12, Vol.24 (6), p.401-402

2010

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Italian Rett database and biobank

Human mutation, 2007-04, Vol.28 (4), p.329-335

2007

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Is Rett syndrome a loss-of-imprinting disorder?

Nature genetics, 2005-01, Vol.37 (1), p.10-11

2005

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Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

Graefe's archive for clinical and experimental ophthalmology, 2006-09, Vol.244 (9), p.1077-1082

2006

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Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript

Identification and characterization of novel ETV4 splice variants in prostate cancer

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Rett syndrome: the complex nature of a monogenic disease

Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Is Rett syndrome a loss-of-imprinting disorder?

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations

Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)

Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGH

Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG

An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation

Easy genotyping of complement C3 ‘slow’ and ‘fast’ allotypes by tetra-primer amplification refractory mutation system PCR

Italian Rett database and biobank

Is Rett syndrome a loss-of-imprinting disorder?

Optineurin gene is not involved in the common high-tension form of primary open-angle glaucoma

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