Tommaso Pippucci

Affiliations
  • Medical Genetics Unit, Polyclinic Sant' Orsola-Malpighi University Hospital, Bologna, Italy.

Publications (48)

Correction: The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik H Niks , Floor E Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R NordliJr , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

Human molecular genetics
Avec: Tamar Harel , John N Griffin , Thomas Arbogast , Tanner O Monroe , Flavia Palombo , Marcella Martinelli , Marco Seri , Tommaso Pippucci , Orly Elpeleg , Nicholas Katsanis

Long read sequencing on its way to the routine diagnostics of genetic diseases.

Frontiers in genetics
Avec: Giulia Olivucci , Emanuela Iovino , Giovanni Innella , Daniela Turchetti , Tommaso Pippucci , Pamela Magini

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

European journal of human genetics : EJHG
Avec: Elisa Benetti , Rossella Tita , Ottavia Spiga , Andrea Ciolfi , Giovanni Birolo , Alessandro Bruselles , Gabriella Doddato , Annarita Giliberti , Caterina Marconi , Francesco Musacchia , Tommaso Pippucci , Annalaura Torella , Alfonso Trezza , Floriana Valentino , Margherita Baldassarri , Alfredo Brusco , Rosanna Asselta , Mirella Bruttini , Simone Furini , Marco Seri , Vincenzo Nigro , Giuseppe Matullo , Marco Tartaglia , Francesca Mari , Auteur inconnu , Alessandra Renieri , Anna Maria Pinto

Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients.

Seizure
Avec: Laura Licchetta , Tommaso Pippucci , Sara Baldassari , Raffaella Minardi , Federica Provini , Barbara Mostacci , Giuseppe Plazzi , Paolo Tinuper , Francesca Bisulli , Auteur inconnu

A novel mutation in

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Avec: Chiara Diquigiovanni , Christian Bergamini , Rebeca Diaz , Irene Liparulo , Francesca Bianco , Luca Masin , Vito Antonio Baldassarro , Nicola Rizzardi , Antonia Tranchina , Francesco Buscherini , Anita Wischmeijer , Tommaso Pippucci , Emanuela Scarano , Duccio Maria Cordelli , Romana Fato , Marco Seri , Silvia Paracchini , Elena Bonora

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

American journal of human genetics
Avec: Ash Zawerton , Baojin Yao , J Paige Yeager , Tommaso Pippucci , Abdul Haseeb , Joshua D Smith , Lisa Wischmann , Susanne J Kühl , John C S Dean , Daniela T Pilz , Susan E Holder , Auteur inconnu , Auteur inconnu , Alisdair McNeill , Claudio Graziano , Véronique Lefebvre

The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik Niks , Floor E Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R Nordli , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Exploration of Tools for the Interpretation of Human Non-Coding Variants.

International journal of molecular sciences
Avec: Nicole Tabarini , Elena Biagi , Paolo Uva , Emanuela Iovino , Tommaso Pippucci , Marco Seri , Andrea Cavalli , Isabella Ceccherini , Marta Rusmini , Federica Viti

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Haematologica
Avec: Caterina Marconi , Alessandro Pecci , Flavia Palombo , Federica Melazzini , Roberta Bottega , Elena Nardi , Valeria Bozzi , Michela Faleschini , Serena Barozzi , Tania Giangregorio , Pamela Magini , Carlo L Balduini , Anna Savoia , Marco Seri , Patrizia Noris , Tommaso Pippucci

In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss.

Journal, genetic engineering & biotechnology
Avec: Mohammed Nasser Al-Kindi , Mazin Jawad Al-Khabouri , Khalsa Ahmad Al-Lamki , Flavia Palombo , Tommaso Pippucci , Giovanni Romeo , Nadia Mohammed Al-Wardy

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

American journal of human genetics
Avec: Sarah K Fiordaliso , Aiko Iwata-Otsubo , Alyssa L Ritter , Mathieu Quesnel-Vallières , Katsunori Fujiki , Eriko Nishi , Miroslava Hancarova , Noriko Miyake , Jenny E V Morton , Sangmoon Lee , Karl Hackmann , Masashige Bando , Koji Masuda , Ryuichiro Nakato , Michiko Arakawa , Elizabeth Bhoj , Dong Li , Hakon Hakonarson , Ryojun Takeda , Margaret Harr , Beth Keena , Elaine H Zackai , Nobuhiko Okamoto , Seiji Mizuno , Jung Min Ko , Alica Valachova , Darina Prchalova , Marketa Vlckova , Tommaso Pippucci , Christoph Seiler , Murim Choi , Naomichi Matsumoto , Nataliya Di Donato , Yoseph Barash , Zdenek Sedlacek , Katsuhiko Shirahige , Kosuke Izumi

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Human genetics
Avec: Gloria Negri , Pamela Magini , Donatella Milani , Milena Crippa , Elisa Biamino , Maria Piccione , Stefano Sotgiu , Chiara Perrìa , Giuseppina Vitiello , Marina Frontali , Antonella Boni , Elisabetta Di Fede , Maria Chiara Gandini , Elisa Adele Colombo , Michael J Bamshad , Deborah A Nickerson , Joshua D Smith , Italia Loddo , Palma Finelli , Marco Seri , Tommaso Pippucci , Lidia Larizza , Cristina Gervasini

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.

American journal of medical genetics. Part A
Avec: Lisa Pavinato , Slavica Trajkova , Enrico Grosso , Elisa Giorgio , Alessandro Bruselles , Francesca Clementina Radio , Tommaso Pippucci , Paola Dimartino , Marco Tartaglia , Aleksandar Petlichkovski , Silvia De Rubeis , Joseph Buxbaum , Giovanni Battista Ferrero , Roberto Keller , Alfredo Brusco

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

Epilepsia
Avec: Antonietta Coppola , S Krithika , Michele Iacomino , Dheeraj Bobbili , Simona Balestrini , Irene Bagnasco , Leonilda Bilo , Daniela Buti , Susanna Casellato , Claudia Cuccurullo , Edoardo Ferlazzo , Costin Leu , Lucio Giordano , Giuseppe Gobbi , Laura Hernandez-Hernandez , Nick Lench , Helena Martins , Stefano Meletti , Tullio Messana , Vincenzo Nigro , Michele Pinelli , Tommaso Pippucci , Ravishankara Bellampalli , Barbara Salis , Vito Sofia , Pasquale Striano , Salvatore Striano , Laura Tassi , Aglaia Vignoli , Anna Elisabetta Vaudano , Maurizio Viri , Ingrid E Scheffer , Patrick May , Federico Zara , Sanjay M Sisodiya

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Kerith-Rae Dias , Colleen M Carlston , Laura E R Blok , Lachlan De Hayr , Urwah Nawaz , Carey-Anne Evans , Pinar Bayrak-Toydemir , Stephanie Htun , Ying Zhu , Alan Ma , Sally Ann Lynch , Catherine Moorwood , Karen Stals , Sian Ellard , Matthew N Bainbridge , Jennifer Friedman , John G Pappas , Rachel Rabin , Catherine B Nowak , Jessica Douglas , Theodore E Wilson , Maria J Guillen Sacoto , Sureni V Mullegama , Timothy Blake Palculict , Edwin P Kirk , Jason R Pinner , Matthew Edwards , Francesca Montanari , Claudio Graziano , Tommaso Pippucci , Bri Dingmann , Ian Glass , Heather C Mefford , Takeyoshi Shimoji , Toshimitsu Suzuki , Kazuhiro Yamakawa , Haley Streff , Christian P Schaaf , Anne M Slavotinek , Irina Voineagu , John C Carey , Michael F Buckley , Annette Schenck , Robert J Harvey , Tony Roscioli

Resources and tools for rare disease variant interpretation.

Frontiers in molecular biosciences
Avec: Luana Licata , Allegra Via , Paola Turina , Giulia Babbi , Silvia Benevenuta , Claudio Carta , Rita Casadio , Andrea Cicconardi , Angelo Facchiano , Piero Fariselli , Deborah Giordano , Federica Isidori , Anna Marabotti , Pier Luigi Martelli , Stefano Pascarella , Michele Pinelli , Tommaso Pippucci , Roberta Russo , Castrense Savojardo , Bernardina Scafuri , Lucrezia Valeriani , Emidio Capriotti

Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.

Epilepsy & behavior : E&B
Avec: L Ferri , V Menghi , L Licchetta , P Dimartino , R Minardi , C Davì , L Di Vito , E Cifaldi , C Zenesini , F Gozzo , V Pelliccia , V Mariani , Y C C de Spelorzi , S Gustincich , M Seri , L Tassi , T Pippucci , F Bisulli

COQ7 defect causes prenatal onset of mitochondrial CoQ

European journal of human genetics : EJHG
Avec: Ilaria Pettenuzzo , Sara Carli , Ana Sánchez-Cuesta , Federica Isidori , Francesca Montanari , Mina Grippa , Giulia Lanzoni , Irene Ambrosetti , Veronica Di Pisa , Duccio Maria Cordelli , Maria Cristina Mondardini , Tommaso Pippucci , Luca Ragni , Giovanna Cenacchi , Roberta Costa , Mario Lima , Maria Antonietta Capristo , Concetta Valentina Tropeano , Leonardo Caporali , Valerio Carelli , Elena Brunelli , Monica Maffei , Hodman Ahmed Sheikhmaye , Anna Fetta , Gloria Brea-Calvo , Caterina Garone

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Annals of neurology
Avec: Paola Dimartino , Mariia Zadorozhna , Verónica Yumiceba , Anna Basile , Ilaria Cani , Uirá Souto Melo , Jana Henck , Marjolein Breur , Caterina Tonon , Raffaele Lodi , Alfredo Brusco , Tommaso Pippucci , Foteini-Dionysia Koufi , Elisa Boschetti , Giulia Ramazzotti , Lucia Manzoli , Stefano Ratti , Filippo Pinto E Vairo , Martin B Delatycki , Giovanna Vaula , Pietro Cortelli , Marianna Bugiani , Malte Spielmann , Elisa Giorgio

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Annals of neurology
Avec: Arkaprava Roychaudhury , Yu-Ri Lee , Tae-Ik Choi , Mervyn G Thomas , Tahir N Khan , Hammad Yousaf , Cindy Skinner , Gail Maconachie , Moira Crosier , Holli Horak , Cris S Constantinescu , Tae-Yoon Kim , Kang-Han Lee , Jae-Jun Kyung , Tao Wang , Bonsu Ku , Bernard N Chodirker , Michael F Hammer , Irene Gottlob , William H J Norton , Robert Gerlai , Hyung-Goo Kim , Claudio Graziano , Tommaso Pippucci , Emanuela Iovino , Francesca Montanari , Giulia Severi , Camilo Toro , Cornelius F Boerkoel , Hyo Sun Cha , Cheol Yong Choi , Sungjin Kim , Je-Hyun Yoon , Kelly Gilmore , Neeta L Vora , Erica E Davis , Albert E Chudley , Charles E Schwartz , Cheol-Hee Kim

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Clinical genetics
Avec: Raffaella Minardi , Laura Licchetta , Maria Chiara Baroni , Tommaso Pippucci , Carlotta Stipa , Barbara Mostacci , Giulia Severi , Francesco Toni , Luca Bergonzini , Valerio Carelli , Marco Seri , Paolo Tinuper , Francesca Bisulli

Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.

Molecular diagnosis & therapy
Avec: Paola Dimartino , Valeria Mariani , Caterina Marconi , Raffaella Minardi , Manuela Bramerio , Laura Licchetta , Veronica Menghi , Luca Morandi , Pamela Magini , Patrizia Mongelli , Francesco Cardinale , Marco Seri , Paolo Tinuper , Laura Tassi , Tommaso Pippucci , Francesca Bisulli

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

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik Niks , Floor Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R NordliJr , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

American journal of human genetics
Avec: Pamela Magini , Daphne J Smits , Laura Vandervore , Rachel Schot , Marta Columbaro , Esmee Kasteleijn , Mees van der Ent , Flavia Palombo , Maarten H Lequin , Marjolein Dremmen , Marie Claire Y de Wit , Mariasavina Severino , Maria Teresa Divizia , Pasquale Striano , Natalia Ordonez-Herrera , Amal Alhashem , Ahmed Al Fares , Malak Al Ghamdi , Arndt Rolfs , Peter Bauer , Jeroen Demmers , Frans W Verheijen , Martina Wilke , Marjon van Slegtenhorst , Peter J van der Spek , Marco Seri , Anna C Jansen , Rolf W Stottmann , Robert B Hufnagel , Robert J Hopkin , Deema Aljeaid , Wojciech Wiszniewski , Pawel Gawlinski , Milena Laure-Kamionowska , Fowzan S Alkuraya , Hanah Akleh , Valentina Stanley , Damir Musaev , Joseph G Gleeson , Maha S Zaki , Nicola Brunetti-Pierri , Gerarda Cappuccio , Bella Davidov , Lina Basel-Salmon , Lily Bazak , Noa Ruhrman Shahar , Aida Bertoli-Avella , Ghayda M Mirzaa , William B Dobyns , Tommaso Pippucci , Maarten Fornerod , Grazia M S Mancini

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

Nature communications
Avec: Mark A Corbett , Thessa Kroes , Liana Veneziano , Mark F Bennett , Rahel Florian , Amy L Schneider , Antonietta Coppola , Laura Licchetta , Silvana Franceschetti , Antonio Suppa , Aaron Wenger , Davide Mei , Manuela Pendziwiat , Sabine Kaya , Massimo Delledonne , Rachel Straussberg , Luciano Xumerle , Brigid Regan , Douglas Crompton , Anne-Fleur van Rootselaar , Anthony Correll , Rachael Catford , Francesca Bisulli , Shreyasee Chakraborty , Sara Baldassari , Paolo Tinuper , Kirston Barton , Shaun Carswell , Martin Smith , Alfredo Berardelli , Renee Carroll , Alison Gardner , Kathryn L Friend , Ilan Blatt , Michele Iacomino , Carlo Di Bonaventura , Salvatore Striano , Julien Buratti , Boris Keren , Caroline Nava , Sylvie Forlani , Gabrielle Rudolf , Edouard Hirsch , Eric Leguern , Pierre Labauge , Simona Balestrini , Josemir W Sander , Zaid Afawi , Ingo Helbig , Hiroyuki Ishiura , Shoji Tsuji , Sanjay M Sisodiya , Giorgio Casari , Lynette G Sadleir , Riaan van Coller , Marina A J Tijssen , Karl Martin Klein , Arn M J M van den Maagdenberg , Federico Zara , Renzo Guerrini , Samuel F Berkovic , Tommaso Pippucci , Laura Canafoglia , Melanie Bahlo , Pasquale Striano , Ingrid E Scheffer , Francesco Brancati , Christel Depienne , Jozef Gecz

Epilepsy with auditory features: Contribution of known genes in 112 patients.

Seizure
Avec: F Bisulli , C Rinaldi , T Pippucci , R Minardi , S Baldassari , C Zenesini , B Mostacci , M Fanella , P Avoni , V Menghi , L Caporali , L Muccioli , P Tinuper , L Licchetta

Functional analysis of

Journal of medical genetics
Avec: Lisa Pavinato , Marina Villamor-Payà , Maria Sanchiz-Calvo , Cristina Andreoli , Marina Gay , Marta Vilaseca , Gianluca Arauz-Garofalo , Andrea Ciolfi , Alessandro Bruselles , Tommaso Pippucci , Valentina Prota , Diana Carli , Elisa Giorgio , Francesca Clementina Radio , Vincenzo Antona , Mario Giuffrè , Kara Ranguin , Cindy Colson , Silvia De Rubeis , Paola Dimartino , Joseph D Buxbaum , Giovanni Battista Ferrero , Marco Tartaglia , Simone Martinelli , Travis H Stracker , Alfredo Brusco

Third-Generation Cytogenetic Analysis: Diagnostic Application of Long-Read Sequencing.

The Journal of molecular diagnostics : JMD
Avec: Pamela Magini , Alessandra Mingrino , Barbara Gega , Gianluca Mattei , Roberto Semeraro , Davide Bolognini , Patrizia Mongelli , Laura Desiderio , Maria Carla Pittalis , Tommaso Pippucci , Alberto Magi

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Brain : a journal of neurology
Avec: Luca Gozzelino , Gaga Kochlamazashvili , Sara Baldassari , Albert Ian Mackintosh , Laura Licchetta , Emanuela Iovino , Yu Chi Liu , Caitlin A Bennett , Mark F Bennett , John A Damiano , Gábor Zsurka , Caterina Marconi , Tania Giangregorio , Pamela Magini , Marijn Kuijpers , Tanja Maritzen , Giuseppe Danilo Norata , Stéphanie Baulac , Laura Canafoglia , Marco Seri , Paolo Tinuper , Ingrid E Scheffer , Melanie Bahlo , Samuel F Berkovic , Michael S Hildebrand , Wolfram S Kunz , Lucio Giordano , Francesca Bisulli , Miriam Martini , Volker Haucke , Emilio Hirsch , Tommaso Pippucci

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.

Annals of neurology
Avec: Guy Helman , Parand Zarekiani , Samantha A M Tromp , Ashley Andrews , Lorenzo D Botto , Joshua L Bonkowsky , Anna Chassevent , Elisa Giorgio , Tommaso Pippucci , Shen Wei , Constance Smith-Hicks , Giovanna Vaula , Michèl A A P Willemsen , Mareike Schimmel , Kurt Vollert , Fumitaka Shimizu , Takashi Kanda , Matthew Lynch , Tony Roscioli , Ryan J Taft , Cas Simons , Marianna Bugiani , Taco W Kuijpers , Marjo S van der Knaap

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

NPJ genomic medicine
Avec: Jil D Stegmann , Jeshurun C Kalanithy , Gabriel C Dworschak , Nina Ishorst , Enrico Mingardo , Filipa M Lopes , Yee Mang Ho , Phillip Grote , Tobias T Lindenberg , Öznur Yilmaz , Khadija Channab , Steve Seltzsam , Shirlee Shril , Friedhelm Hildebrandt , Felix Boschann , André Heinen , Angad Jolly , Katherine Myers , Kim McBride , Mir Reza Bekheirnia , Nasim Bekheirnia , Marcello Scala , Manuela Morleo , Vincenzo Nigro , Annalaura Torella , Auteur inconnu , Michele Pinelli , Valeria Capra , Andrea Accogli , Silvia Maitz , Alice Spano , Rory J Olson , Eric W Klee , Brendan C Lanpher , Se Song Jang , Jong-Hee Chae , Philipp Steinbauer , Dietmar Rieder , Andreas R Janecke , Julia Vodopiutz , Ida Vogel , Jenny Blechingberg , Jennifer L Cohen , Kacie Riley , Victoria Klee , Laurence E Walsh , Matthias Begemann , Miriam Elbracht , Thomas Eggermann , Arzu Stoppe , Kyra Stuurman , Marjon van Slegtenhorst , Tahsin Stefan Barakat , Maureen S Mulhern , Tristan T Sands , Cheryl Cytrynbaum , Rosanna Weksberg , Federica Isidori , Tommaso Pippucci , Giulia Severi , Francesca Montanari , Michael C Kruer , Somayeh Bakhtiari , Hossein Darvish , Heiko Reutter , Gregor Hagelueken , Matthias Geyer , Adrian S Woolf , Jennifer E Posey , James R Lupski , Benjamin Odermatt , Alina C Hilger

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal of medical genetics
Avec: Francesca Peluso , Stefano G Caraffi , Gianluca Contrò , Lara Valeri , Manuela Napoli , Giorgia Carboni , Alka Seth , Roberta Zuntini , Emanuele Coccia , Guja Astrea , Anne-Marie Bisgaard , Ivan Ivanovski , Silvia Maitz , Elise Brischoux-Boucher , Melissa T Carter , Maria Lisa Dentici , Koenraad Devriendt , Melissa Bellini , Maria Cristina Digilio , Asif Doja , David A Dyment , Stense Farholt , Carlos R Ferreira , Lynne A Wolfe , William A Gahl , Maria Gnazzo , Himanshu Goel , Sabine Weller Grønborg , Trine Hammer , Lorenzo Iughetti , Tjitske Kleefstra , David A Koolen , Francesca Romana Lepri , Gabrielle Lemire , Pedro Louro , Gary McCullagh , Simona F Madeo , Annarita Milone , Roberta Milone , Jens Erik Klint Nielsen , Antonio Novelli , Charlotte W Ockeloen , Rosario Pascarella , Tommaso Pippucci , Ivana Ricca , Stephen P Robertson , Sarah Sawyer , Marie Falkenberg Smeland , Sander Stegmann , Constanze T Stumpel , Amy Goel , Juliet M Taylor , Domenico Barbuti , Annarosa Soresina , Maria Francesca Bedeschi , Roberta Battini , Anna Cavalli , Carlo Fusco , Maria Iascone , Lionel Van Maldergem , Sunita Venkateswaran , Orsetta Zuffardi , Samantha Vergano , Livia Garavelli , Allan Bayat

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

European journal of human genetics : EJHG
Avec: Chiara Giovenino , Slavica Trajkova , Lisa Pavinato , Simona Cardaropoli , Verdiana Pullano , Enza Ferrero , Elena Sukarova-Angelovska , Silvia Carestiato , Paola Salmin , Antonina Rinninella , Anthony Battaglia , Luca Bertoli , Antonio Fadda , Flavia Palermo , Diana Carli , Alessandro Mussa , Paola Dimartino , Alessandro Bruselles , Tawfiq Froukh , Giorgia Mandrile , Barbara Pasini , Silvia De Rubeis , Joseph D Buxbaum , Tommaso Pippucci , Marco Tartaglia , Marzia Rossato , Massimo Delledonne , Giovanni Battista Ferrero , Alfredo Brusco

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic

Neurology. Genetics
Avec: Renzo Guerrini , Mara Cavallin , Tommaso Pippucci , Anna Rosati , Francesca Bisulli , Paola Dimartino , Carmen Barba , Rita Garbelli , Anna Maria Buccoliero , Laura Tassi , Valerio Conti

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

The Journal of clinical investigation
Avec: Valentina Del Dotto , Farid Ullah , Ivano Di Meo , Pamela Magini , Mirjana Gusic , Alessandra Maresca , Leonardo Caporali , Flavia Palombo , Francesca Tagliavini , Evan Harris Baugh , Bertil Macao , Zsolt Szilagyi , Camille Peron , Margaret A Gustafson , Kamal Khan , Chiara La Morgia , Piero Barboni , Michele Carbonelli , Maria Lucia Valentino , Rocco Liguori , Vandana Shashi , Jennifer Sullivan , Shashi Nagaraj , Mays El-Dairi , Alessandro Iannaccone , Ioana Cutcutache , Enrico Bertini , Rosalba Carrozzo , Francesco Emma , Francesca Diomedi-Camassei , Claudia Zanna , Martin Armstrong , Matthew Page , Nicholas Stong , Sylvia Boesch , Robert Kopajtich , Saskia Wortmann , Wolfgang Sperl , Erica E Davis , William C Copeland , Marco Seri , Maria Falkenberg , Holger Prokisch , Nicholas Katsanis , Valeria Tiranti , Tommaso Pippucci , Valerio Carelli

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

Annals of clinical and translational neurology
Avec: Tommaso Pippucci , Laura Licchetta , Sara Baldassari , Caterina Marconi , Monica De Luise , Candace Myers , Elena Nardi , Federica Provini , Cinzia Cameli , Raffaella Minardi , Elena Bacchelli , Lucio Giordano , Giovanni Crichiutti , Giuseppe d'Orsi , Marco Seri , Giuseppe Gasparre , Heather C Mefford , Paolo Tinuper , Francesca Bisulli , Auteur inconnu

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus.

Epileptic disorders : international epilepsy journal with videotape
Avec: Francesca Bisulli , Laura Licchetta , Sara Baldassari , Lorenzo Muccioli , Caterina Marconi , Gaetano Cantalupo , Candace Myers , Veronica Menghi , Raffaella Minardi , Leonardo Caporali , Carla Marini , Renzo Guerrini , Heather C Mefford , Paolo Tinuper , Tommaso Pippucci

Loss-of-function mutations in

Blood
Avec: Caterina Marconi , Christian A Di Buduo , Kellie LeVine , Serena Barozzi , Michela Faleschini , Valeria Bozzi , Flavia Palombo , Spencer McKinstry , Giuseppe Lassandro , Paola Giordano , Patrizia Noris , Carlo L Balduini , Anna Savoia , Alessandra Balduini , Tommaso Pippucci , Marco Seri , Nicholas Katsanis , Alessandro Pecci

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.

Computational and structural biotechnology journal
Avec: Alberto Magi , Tania Giangregorio , Roberto Semeraro , Giulia Carangelo , Flavia Palombo , Giovanni Romeo , Marco Seri , Tommaso Pippucci

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

Brain : a journal of neurology
Avec: Alisdair McNeill , Emanuela Iovino , Luke Mansard , Christel Vache , David Baux , Emma Bedoukian , Helen Cox , John Dean , David Goudie , Ajith Kumar , Ruth Newbury-Ecob , Chiara Fallerini , Alessandra Renieri , Diego Lopergolo , Francesca Mari , Catherine Blanchet , Marjolaine Willems , Anne-Francoise Roux , Tommaso Pippucci , Eric Delpire

unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level.

Bioinformatics (Oxford, England)
Avec: Emanuela Iovino , Marco Seri , Tommaso Pippucci

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.

Human genetics
Avec: Flavia Palombo , Claudio Graziano , Nadia Al Wardy , Nayereh Nouri , Caterina Marconi , Pamela Magini , Giulia Severi , Chiara La Morgia , Gaetano Cantalupo , Duccio Maria Cordelli , Simone Gangarossa , Mohammed Nasser Al Kindi , Mazin Al Khabouri , Mansoor Salehi , Elisa Giorgio , Alfredo Brusco , Francesco Pisani , Giovanni Romeo , Valerio Carelli , Tommaso Pippucci , Marco Seri

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

American journal of human genetics
Avec: Muhammad A Usmani , Zubair M Ahmed , Pamela Magini , Victor Murcia Pienkowski , Kristen J Rasmussen , Rebecca Hernan , Faiza Rasheed , Mureed Hussain , Mohsin Shahzad , Brendan C Lanpher , Zhiyv Niu , Foong-Yen Lim , Tommaso Pippucci , Rafal Ploski , Verena Kraus , Karolina Matuszewska , Flavia Palombo , Jessica Kianmahd , Auteur inconnu , Julian A Martinez-Agosto , Hane Lee , Emma Colao , M Mahdi Motazacker , Karlla W Brigatti , Erik G Puffenberger , S Amer Riazuddin , Claudia Gonzaga-Jauregui , Wendy K Chung , Matias Wagner , Matthew J Schultz , Marco Seri , Anneke J A Kievit , Nicola Perrotti , J S Klein Wassink-Ruiter , Hans van Bokhoven , Sheikh Riazuddin , Saima Riazuddin

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

HGG advances
Avec: Slavica Trajkova , Jennifer Kerkhof , Matteo Rossi Sebastiano , Lisa Pavinato , Enza Ferrero , Chiara Giovenino , Diana Carli , Eleonora Di Gregorio , Roberta Marinoni , Giorgia Mandrile , Flavia Palermo , Silvia Carestiato , Simona Cardaropoli , Verdiana Pullano , Antonina Rinninella , Elisa Giorgio , Tommaso Pippucci , Paola Dimartino , Jessica Rzasa , Kathleen Rooney , Haley McConkey , Aleksandar Petlichkovski , Barbara Pasini , Elena Sukarova-Angelovska , Christopher M Campbell , Kay Metcalfe , Sarah Jenkinson , Siddharth Banka , Alessandro Mussa , Giovanni Battista Ferrero , Bekim Sadikovic , Alfredo Brusco

Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only.

Biomolecules
Avec: Emanuela Iovino , Luca Scapoli , Annalisa Palmieri , Rossella Sgarzani , Nayereh Nouri , Agnese Pellati , Francesco Carinci , Marco Seri , Tommaso Pippucci , Marcella Martinelli

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Orphanet journal of rare diseases
Avec: Anna Fetta , Francesco Toni , Ilaria Pettenuzzo , Emilia Ricci , Alessandro Rocca , Caterina Gambi , Luca Soliani , Veronica Di Pisa , Silvia Martini , Giacomo Sperti , Valeria Cagnazzo , Patrizia Accorsi , Emanuele Bartolini , Domenica Battaglia , Pia Bernardo , Maria Paola Canevini , Anna Rita Ferrari , Lucio Giordano , Chiara Locatelli , Margherita Mancardi , Alessandro Orsini , Tommaso Pippucci , Dario Pruna , Anna Rosati , Agnese Suppiej , Sara Tagliani , Alessandro Vaisfeld , Aglaia Vignoli , Kosuke Izumi , Ian Krantz , Duccio Maria Cordelli

Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.

British journal of haematology
Avec: Laureano J Kamiya , Serena Barozzi , Federica Isidori , Daiana Ganiewich , Geraldine De Luca , Valeria Bozzi , Rosana F Marta , Federica Melazzini , Tommaso Pippucci , Paula G Heller , Ana C Glembotsky , Alessandro Pecci

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Marco Seri 18 collaborations
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