Tommaso Pippucci

Tommaso Pippucci

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Tommaso Pippucci

Tommaso Pippucci

Publications by authors named "Tommaso Pippucci"

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

Am J Hum Genet 2019 Nov 3;105(5):987-995. Epub 2019 Oct 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo 113-8657, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.009DOI Listing
November 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Am J Hum Genet 2019 02 17;104(2):246-259. Epub 2019 Jan 17.

Department of Surgery/Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369454PMC
February 2019

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

Br J Haematol 2018 10 23;183(2):276-288. Epub 2018 Oct 23.

Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1111/bjh.15531DOI Listing
October 2018

Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy.

Sleep Med 2018 08 30;48:8-15. Epub 2018 Apr 30.

IRCCS, Institute of Neurological Sciences of Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.sleep.2018.03.027DOI Listing
August 2018

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

Br J Haematol 2018 06 3;181(5):698-701. Epub 2017 May 3.

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

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http://dx.doi.org/10.1111/bjh.14694DOI Listing
June 2018

Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations.

Epilepsy Behav 2018 02 4;79:169-173. Epub 2018 Jan 4.

IRCCS Institute of Neurological Sciences, Via Altura 3, 40137 Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.12.012DOI Listing
February 2018

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Eur J Med Genet 2018 Jan 9;61(1):1-7. Epub 2017 Oct 9.

Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), 1002 Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.002DOI Listing
January 2018

A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation.

Seizure 2017 Dec 4;53:51-54. Epub 2017 Nov 4.

IRCCS Bologna Institute of Neurological Sciences, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311173037
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http://dx.doi.org/10.1016/j.seizure.2017.10.022DOI Listing
December 2017

XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.

BMC Genomics 2017 Sep 21;18(1):747. Epub 2017 Sep 21.

Istituto di Ricerca Genetica e Biomedica (IRGB), Cittadella Universitaria di Cagliari, Monserrato, 09042, Italy.

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http://dx.doi.org/10.1186/s12864-017-4137-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609061PMC
September 2017

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2016 12 9;170(12):3258-3264. Epub 2016 Sep 9.

Clinical Genetics Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37873DOI Listing
December 2016

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.

Nucleic Acids Res 2016 Nov 9;44(20):e154. Epub 2016 Aug 9.

Department of Experimental and Clinical Medicine, University of Florence, Florence

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http://dx.doi.org/10.1093/nar/gkw695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5175347PMC
November 2016

GATOR1 complex: the common genetic actor in focal epilepsies.

J Med Genet 2016 08 19;53(8):503-10. Epub 2016 May 19.

Department of Medical and Surgical Sciences-Medical Genetics Unit, Università degli Studi di Bologna Azienda Ospedaliera Sant'Orsola-Malpighi, Bologna, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2016-103883DOI Listing
August 2016

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.

Thromb Haemost 2016 05 14;115(5):1076-9. Epub 2016 Jan 14.

Alessandro Pecci, Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, 27100 Pavia, Italy, Tel.: +39 0382 501358, Fax: +39 0382 526223, E-mail:

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http://dx.doi.org/10.1160/TH15-11-0884DOI Listing
May 2016

DEPDC5 mutations in epilepsy with auditory features.

Epilepsia 2016 Feb;57(2):335

IRCCS Institute of Neurological Sciences, Bologna, Italy.

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http://dx.doi.org/10.1111/epi.13233DOI Listing
February 2016

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Hum Mol Genet 2015 Jun 3;24(12):3335-47. Epub 2015 Mar 3.

School of Paediatrics and Reproductive Health, Robinson Research Institute and School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide 5000, Australia,

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http://dx.doi.org/10.1093/hmg/ddv083DOI Listing
June 2015

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Neurol Genet 2015 Jun 14;1(1):e5. Epub 2015 May 14.

U.O. Medical Genetics (T.P., M.S.), Polyclinic Sant'Orsola-Malpighi, Bologna, Italy; Department of Medical and Surgical Sciences (S.B., F.P., M.S.) and Department of Biomedical and Neuromotor Sciences (L.L., V.M., C.L., C.S., P.T., F.B.), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (L.L., V.M., C.L., C.S., P.T., F.B.), Bologna, Italy; Laboratory of Integrative Systems Medicine (LISM) (R.D'.A.), Institute of Informatics and Telematics and Institute of Clinical Physiology, National Research Council, Pisa, Italy; S.C. of Neurology (G.B.), SS. Annunziata Hospital, Taranto, Italy; Epilepsy Centre (G.d'.O.), Clinic of Nervous System Diseases, University of Foggia, Riuniti Hospital, Foggia, Italy; Department of Clinical and Experimental Medicine (A.M.), University of Florence, Florence, Italy; and Florey Institute (I.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821078PMC
June 2015

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Gene 2015 Apr 14;559(2):144-8. Epub 2015 Jan 14.

Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.01.026DOI Listing
April 2015

Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies.

Hum Hered 2014 29;77(1-4):63-72. Epub 2014 Jul 29.

Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi, Bologna, Italy.

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http://dx.doi.org/10.1159/000362412DOI Listing
March 2015

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Blood 2015 Jan 31;125(5):869-72. Epub 2014 Oct 31.

Department of Internal Medicine, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;

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http://dx.doi.org/10.1182/blood-2014-08-594531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311232PMC
January 2015

H3M2: detection of runs of homozygosity from whole-exome sequencing data.

Bioinformatics 2014 Oct 24;30(20):2852-9. Epub 2014 Jun 24.

Department of Experimental and Clinical Medicine, University of Florence, Florence 50019, Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi, Department of Medical and Surgical Sciences, University of Bologna, Bologna 40138, Diagnostic Genetic Unit, Careggi Hospital, Florence 50019, Italy and Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 EN, The Netherlands Department of Experimental and Clinical Medicine, University of Florence, Florence 50019, Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi, Department of Medical and Surgical Sciences, University of Bologna, Bologna 40138, Diagnostic Genetic Unit, Careggi Hospital, Florence 50019, Italy and Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 EN, The Netherlands.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btu401DOI Listing
October 2014

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Haematologica 2014 Aug 24;99(8):1387-94. Epub 2014 Apr 24.

Department of Medicine and Haematology, University Hospital of Verona, Verona, Italy.

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http://dx.doi.org/10.3324/haematol.2014.105924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116839PMC
August 2014

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Epilepsia 2014 Jun 1;55(6):841-8. Epub 2014 Mar 1.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/epi.12560DOI Listing
June 2014

Reply to ten Kate et al.

Eur J Hum Genet 2014 Feb 17;22(2):157-8. Epub 2013 Jul 17.

1] Unità Operativa di Genetica Medica, Policlinico Sant'Orsola Malpighi, Bologna, Italy [2] European Genetics Foundation, Bologna, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895652PMC
February 2014

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

Eur J Hum Genet 2013 Nov 13;21(11):1308-11. Epub 2013 Mar 13.

1] Unità Operativa di Genetica Medica, Dipartimento di Scienze Mediche e Chirurgiche Policlinico Sant'Orsola-Malpighi, Bologna, Italy [2] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798848PMC
November 2013

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).

Ann Hum Genet 2012 Mar 21;76(2):159-67. Epub 2011 Dec 21.

Unità Operativa di Genetica Medica, Dipartimento di Scienze Ginecologiche, Ostetriche e Pediatriche, Policlinico Sant'Orsola Malpighi, Università di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/j.1469-1809.2011.00693.xDOI Listing
March 2012

Read count approach for DNA copy number variants detection.

Bioinformatics 2012 Feb 23;28(4):470-8. Epub 2011 Dec 23.

Faculty of Medicine, University of Florence, Florence 50019, Italy.

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http://dx.doi.org/10.1093/bioinformatics/btr707DOI Listing
February 2012

EX-HOM (EXome HOMozygosity): a proof of principle.

Hum Hered 2011 18;72(1):45-53. Epub 2011 Aug 18.

Medical Genetics Unit, Department of Gynecological, Obstetric and Pediatric Sciences, University of Bologna, Italy.

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http://dx.doi.org/10.1159/000330164DOI Listing
January 2012

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.

Dev Med Child Neurol 2011 Oct 18;53(10):958-61. Epub 2011 May 18.

Child Neuropsychiatric Unit, St Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2011.03993.xDOI Listing
October 2011

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.

Eur J Hum Genet 2007 Aug 9;15(8):889-97. Epub 2007 May 9.

Laboratory of Medical Genetics, Department of Internal Medicine, Cardioangiology and Hepatology, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201844DOI Listing
August 2007