Maria Iascone

Affiliations
  • Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Piazza OMS 1, 24127 Bergamo, Italy.

Publications (86)

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

American journal of human genetics
Avec: Sanaa Choufani , William T Gibson , Andrei L Turinsky , Brian H Y Chung , Tianren Wang , Kopal Garg , Alessandro Vitriolo , Ana S A Cohen , Sharri Cyrus , Sarah Goodman , Eric Chater-Diehl , Jack Brzezinski , Michael Brudno , Luk Ho Ming , Susan M White , Sally Ann Lynch , Carol Clericuzio , I Karen Temple , Frances Flinter , Vivienne McConnell , Tom Cushing , Lynne M Bird , Miranda Splitt , Bronwyn Kerr , Stephen W Scherer , Jerry Machado , Eri Imagawa , Nobuhiko Okamoto , Naomichi Matsumoto , Guiseppe Testa , Romano Tenconi , Oana Caluseriu , Roberto Mendoza-Londono , David Chitayat , Cheryl Cytrynbaum , Katrina Tatton-Brown , Rosanna Weksberg

PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.

American journal of medical genetics. Part A
Avec: Angela Peron , Elisabetta Salvatici , Benedetta Cavirani , Daniela Marchetti , Silvia Corno , Aglaia Vignoli

Phenotype delineation of ZNF462 related syndrome.

American journal of medical genetics. Part A
Avec: Paul Kruszka , Tommy Hu , Sungkook Hong , Rebecca Signer , Benjamin Cogné , Betrand Isidor , Sarah E Mazzola , Jacques C Giltay , Koen L I van Gassen , Eleina M England , Lynn Pais , Charlotte W Ockeloen , Pedro A Sanchez-Lara , Esther Kinning , Darius J Adams , Kayla Treat , Wilfredo Torres-Martinez , Maria F Bedeschi , Stephanie Blaney , Oliver Bell , Tiong Y Tan , Marie-Ange Delrue , Julie Jurgens , Brenda J Barry , Elizabeth C Engle , Sarah K Savage , Nicole Fleischer , Julian A Martinez-Agosto , Kym Boycott , Elaine H Zackai , Maximilian Muenke

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

American journal of human genetics
Avec: Konrad Platzer , Heinrich Sticht , Stacey L Edwards , William Allen , Kaitlin M Angione , Maria T Bonati , Campbell Brasington , Megan T Cho , Laurie A Demmer , Tzipora Falik-Zaccai , Candace N Gamble , Yorck Hellenbroich , Fernando Kok , Sonal Mahida , Hanna Mandel , Thorsten Marquardt , Kirsty McWalter , Bianca Panis , Alexander Pepler , Hailey Pinz , Luiza Ramos , Deepali N Shinde , Constance Smith-Hicks , Alexander P A Stegmann , Petra Stöbe , Constance T R M Stumpel , Carolyn Wilson , Johannes R Lemke , Nataliya Di Donato , Kenneth G Miller , Rami Jamra

A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.

Clinical dysmorphology
Avec: Alessandra Pelle , Laura Pezzoli , Erika Apuril , Angelo Selicorni

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Blood
Avec: Francesco Saettini , Cecilia Poli , Jaime Vengoechea , Sonia Bonanomi , Julio C Orellana , Grazia Fazio , Fred H Rodriguez , Loreani P Noguera , Claire Booth , Valentina Jarur-Chamy , Marissa Shams , Maja Vukic , Serena Gasperini , Manuel Quadri , Amairelys Barroeta Seijas , Elizabeth Rivers , Mario Mauri , Raffaele Badolato , Gianni Cazzaniga , Cristina Bugarin , Giuseppe Gaipa , Wilma G M Kroes , Daniele Moratto , Monique M van Oostaijen-Ten Dam , Frank Baas , Silvère van der Maarel , Rocco Piazza , Zeynep H Coban-Akdemir , James R Lupski , Bo Yuan , Ivan K Chinn , Lucia Daxinger , Andrea Biondi

DNA methylation episignature in Gabriele-de Vries syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Florian Cherik , Jack Reilly , Jennifer Kerkhof , Michael Levy , Haley McConkey , Mouna Barat-Houari , Kameryn M Butler , Christine Coubes , Jennifer A Lee , Gwenael Le Guyader , Raymond J Louie , Wesley G Patterson , Matthew L Tedder , Mads Bak , Trine Bjørg Hammer , William Craigen , Florence Démurger , Christèle Dubourg , Mélanie Fradin , Rachel Franciskovich , Eirik Frengen , Jennifer Friedman , Nathalie Ruiz Palares , Doriana Misceo , Pauline Monin , Sylvie Odent , Christophe Philippe , Flavien Rouxel , Veronica Saletti , Petter Strømme , Perla Cassayre Thulin , Bekim Sadikovic , David Genevieve

Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.

BMC neurology
Avec: Alessandra Consales , Giulia Ardemani , Claudia Maria Cinnante , Mariana Rita Catalano , Claudia Giavoli , Roberta Villa , Camilla Fontana , Maria Francesca Bedeschi , Monica Fumagalli

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.

American journal of medical genetics. Part A
Avec: Roberto Franceschi , Silvia Maitz , Daniela Marchetti , Milena Mariani , Angelo Selicorni , Massimo Soffiati , Evelina Maines

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying

Genes
Avec: Marco Ferilli , Andrea Ciolfi , Lucia Pedace , Marcello Niceta , Francesca Clementina Radio , Simone Pizzi , Evelina Miele , Camilla Cappelletti , Cecilia Mancini , Tiziana Galluccio , Marco Andreani , Luigi Chiriatti , Antonio Novelli , Alessia Micalizzi , Marta Matraxia , Lucia Menale , Flavio Faletra , Paolo Prontera , Alba Pilotta , Maria Francesca Bedeschi , Rossella Capolino , Anwar Baban , Marco Seri , Corrado Mammì , Giuseppe Zampino , Maria Cristina Digilio , Bruno Dallapiccola , Manuela Priolo , Marco Tartaglia

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.

Frontiers in neurology
Avec: Eleonora Bonaventura , Luisella Alberti , Simona Lucchi , Laura Cappelletti , Salvatore Fazzone , Elisa Cattaneo , Matteo Bellini , Giana Izzo , Cecilia Parazzini , Alessandra Bosetti , Elisabetta Di Profio , Giulia Fiore , Matilde Ferrario , Chiara Mameli , Arianna Sangiorgio , Silvia Masnada , Gian Vincenzo Zuccotti , Pierangelo Veggiotti , Luigina Spaccini , Elvira Verduci , Cristina Cereda , Davide Tonduti , Auteur inconnu

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

American journal of medical genetics. Part A
Avec: Beatrice Conti , Berardo Rinaldi , Martina Rimoldi , Roberta Villa , Silvana Gangi , Matteo Porro , Paola Francesca Ajmone , Anna Maria Colli , Fabio Mosca , Maria Francesca Bedeschi

FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Avec: Silvia Masnada , Roberto Previtali , Paola Erba , Elena Beretta , Anna Camporesi , Luisa Chiapparini , Chiara Doneda , Marco U A Sartorio , Luigina Spaccini , Pierangelo Veggiotti , Maurizio Osio , Davide Tonduti , Isabella Moroni

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.

The Journal of clinical endocrinology and metabolism
Avec: Claudio Giacomozzi , Ayelen Martin , María Celia Fernández , Mariana Gutiérrez , Horacio M Domené , Fernando P Dominici , Ignacio Bergadá , Biagio Cangiano , Luca Persani , Patricia A Pennisi

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Yue Huang , Kristy L Jay , Alden Yen-Wen Huang , Jijun Wan , Sharayu V Jangam , Odelia Chorin , Annick Rothschild , Ortal Barel , Milena Mariani , Han Xue , Auteur inconnu , Jing Huang , Cyril Mignot , Boris Keren , Virginie Saillour , Annelise Y Mah-Som , Stephanie Sacharow , Farrah Rajabi , Carrie Costin , Shinya Yamamoto , Oguz Kanca , Hugo J Bellen , Jill A Rosenfeld , Christina G S Palmer , Stanley F Nelson , Michael F Wangler , Julian A Martinez-Agosto

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Annals of clinical and translational neurology
Avec: Maria Francesca Di Feo , Ali Oghabian , Ella Nippala , Mathias Gautel , Heinz Jungbluth , Francesca Forzano , Edoardo Malfatti , Claudia Castiglioni , Ilona Krey , David Gomez Andres , Angela F Brady , Anna Cereda , Lidia Pezzani , Daniel Natera De Benito , Andres Nascimiento Osorio , Berta Estévez Arias , Sergei A Kurbatov , Tania Attie-Bitach , Sheela Nampoothiri , Erin Ryan , Michelle Morrow , Svetlana Gorokhova , Brigitte Chabrol , Juha Sinisalo , Heli Tolppanen , Johanna Tolva , Francina Munell , Jessica Camacho Soriano , Maria Angeles Sanchez Duran , Mridul Johari , Homa Tajsharghi , Peter Hackman , Bjarne Udd , Marco Savarese

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Brain : a journal of neurology
Avec: Eleanor G Seaby , Annie Godwin , Géraldine Meyer-Dilhet , Valentine Clerc , Xavier Grand , Tia Fletcher , Laloe Monteiro , Martijn Kerkhofs , Valerio Carelli , Flavia Palombo , Marco Seri , Giulia Olivucci , Mina Grippa , Claudia Ciaccio , Stefano D'Arrigo , Marion Bermudez , Jan Fischer , Nataliya Di Donato , Sophie Goesswein , Marco L Leung , Daniel C Koboldt , Cortlandt Myers , Gudny Anna Arnadottir , Kari Stefansson , Patrick Sulem , Ethan M Goldberg , Ange-Line Bruel , Frederic Tran Mau Them , Marjolaine Willems , Hans Tomas Bjornsson , Hakon Bjorn Hognason , Eirny Tholl Thorolfsdottir , Emanuele Agolini , Antonio Novelli , Giuseppe Zampino , Roberta Onesimo , Katherine Lachlan , Diana Baralle , Heidi L Rehm , Anne O'Donnell-Luria , Julien Courchet , Matt Guille , Cyril F Bourgeois , Sarah Ennis

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

Brain : a journal of neurology
Avec: Pauline E Schneeberger , Fanny Kortüm , Georg Christoph Korenke , Malik Alawi , René Santer , Mathias Woidy , Daniela Buhas , Stephanie Fox , Jane Juusola , Majid Alfadhel , Bryn D Webb , Emanuele G Coci , Rami Abou Jamra , Manuela Siekmeyer , Saskia Biskup , Corina Heller , Esther M Maier , Poupak Javaher-Haghighi , Maria F Bedeschi , Paola F Ajmone , Hilde Peeters , Katleen Ballon , Jaak Jaeken , Aroa Rodríguez Alonso , María Palomares-Bralo , Fernando Santos-Simarro , Marije E C Meuwissen , Diane Beysen , R Frank Kooy , Henry Houlden , David Murphy , Mohammad Doosti , Ehsan G Karimiani , Majid Mojarrad , Reza Maroofian , Lenka Noskova , Stanislav Kmoch , Tomas Honzik , Heidi Cope , Amarilis Sanchez-Valle , Auteur inconnu , Bruce D Gelb , Ingo Kurth , Maja Hempel , Kerstin Kutsche

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.

The Journal of pediatrics
Avec: Emanuele Nicastro , Angelo Di Giorgio , Daniela Marchetti , Chiara Barboni , Anna Cereda , Lorenzo D'Antiga

Cohesin complex-associated holoprosencephaly.

Brain : a journal of neurology
Avec: Paul Kruszka , Seth I Berger , Valentina Casa , Mike R Dekker , Jenna Gaesser , Karin Weiss , Ariel F Martinez , David R Murdock , Raymond J Louie , Eloise J Prijoles , Angie W Lichty , Oebele F Brouwer , Evelien Zonneveld-Huijssoon , Mark J Stephan , Jacob Hogue , Ping Hu , Momoko Tanima-Nagai , Joshua L Everson , Chitra Prasad , Anna Cereda , Allison Schreiber , Vickie Zurcher , Nicole Corsten-Janssen , Luis Escobar , Nancy J Clegg , Mauricio R Delgado , Omkar Hajirnis , Meena Balasubramanian , Hülya Kayserili , Matthew Deardorff , Raymond A Poot , Kerstin S Wendt , Robert J Lipinski , Maximilian Muenke

Role of Preoperative Cardiovascular Magnetic Resonance in Planning Ventricular Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy.

The American journal of cardiology
Avec: Paolo Spirito , Irene Binaco , Daniele Poggio , Aleksei Zyrianov , Massimiliano Grillo , Laura Pezzoli , Jessica Rossi , Dmitri Malanin , Giuseppe Vaccari , Lucian Dorobantu , Andrea Mortara , Toufic Khouri , Paolo Bruzzi , Paolo Ferrazzi

A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis.

Clinical case reports
Avec: Valentina Spinelli , Francesca Girolami , Chiara Marrone , Veronica Consigli , Silvia Passantino , Giulio Porcedda , Giovanni Battista Calabri , Luciano De Simone , Iacopo Olivotto , Giuseppe Santoro , Silvia Favilli

Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry.

Circulation. Genomic and precision medicine
Avec: Dor Lotan , Joel Salazar-Mendiguchía , Jens Mogensen , Faizan Rathore , Aris Anastasakis , Juan Kaski , Pablo Garcia-Pavia , Iacopo Olivotto , Philippe Charron , Elena Biagini , Anwar Baban , Giuseppe Limongelli , Waddah Ashram , Yishay Wasserstrum , Joseph Galvin , Esther Zorio , Attilio Iacovoni , Lorenzo Monserrat , Paolo Spirito , Michael Arad , Auteur inconnu

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Clinical epigenetics
Avec: Andrea Ciolfi , Aidin Foroutan , Alessandro Capuano , Lucia Pedace , Lorena Travaglini , Simone Pizzi , Marco Andreani , Evelina Miele , Federica Invernizzi , Chiara Reale , Celeste Panteghini , Marcello Niceta , Ralitza H Gavrilova , Laura Schultz-Rogers , Emanuele Agolini , Maria Francesca Bedeschi , Paolo Prontera , Matteo Garibaldi , Serena Galosi , Vincenzo Leuzzi , Paola Soliveri , Rory J Olson , Giovanna S Zorzi , Barbara M Garavaglia , Marco Tartaglia , Bekim Sadikovic

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Molecular genetics & genomic medicine
Avec: Erica Rosina , Lidia Pezzani , Erika Apuril , Laura Pezzoli , Daniela Marchetti , Matteo Bellini , Camilla Lucca , Camilla Meossi , Marta Massimello , Milena Mariani , Agnese Scatigno , Elisa Cattaneo , Lorenzo Colombo , Silvia Maitz , Anna Cereda , Donatella Milani , Luigina Spaccini , Maria Francesca Bedeschi , Angelo Selicorni ,

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lydia von Wintzingerode , Bruria Ben-Zeev , Claudia Cesario , Katie M Chan , Christel Depienne , Orly Elpeleg , Whitley V Kelley , Marie-Cécile Nassogne , Marcello Niceta , Lidia Pezzani , Nils Rahner , Nicole Revencu , Mir Reza Bekheirnia , Teresa Santiago-Sim , Marco Tartaglia , Michelle L Thompson , Marina Trivisano , Julia Hentschel , Heinrich Sticht , Rami Abou Jamra , Henry Oppermann

An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.

Birth defects research
Avec: Federica Ruscitti , Maria Cerminara , Laura Pezzoli , Giulia Rosti , Ferruccio Romano , Patrizia Ronchetto , Giuseppe Martucciello , Silvia Buratti , Francesca Buffelli , Renata Bocciardi , Aldamaria Puliti , Maria Teresa Divizia

Rock around DYRK1A: Ethnic diversity, clinical challenges.

American journal of medical genetics. Part A
Avec: Alice Moroni , Lidia Pezzani , Enrico Alfei , Agnese Scatigno , Anna Cereda , Michela Marzaroli , Claudia Guuva , Sara Gabbiadini , Laura Pezzoli , Daniela Marchetti , Luigina Spaccini ,

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.

American journal of medical genetics. Part A
Avec: Martina Rimoldi , Berardo Rinaldi , Roberta Villa , Jacopo Cerasani , Benedetta Beltrami , Rosamaria Silipigni , Simona Boito , Silvana Gangi , Lorenzo Colombo , Matteo Porro , Claudia Cesaretti , Maria Francesca Bedeschi

Prenatal Clinical Findings in

Genes
Avec: Emanuele Coccia , Lara Valeri , Roberta Zuntini , Stefano Giuseppe Caraffi , Francesca Peluso , Luca Pagliai , Antonietta Vezzani , Zaira Pietrangiolillo , Francesco Leo , Nives Melli , Valentina Fiorini , Andrea Greco , Francesca Romana Lepri , Elisa Pisaneschi , Annabella Marozza , Diana Carli , Alessandro Mussa , Francesca Clementina Radio , Beatrice Conti , Giancarlo Gargano , Antonio Novelli , Marco Tartaglia , Orsetta Zuffardi , Maria Francesca Bedeschi , Livia Garavelli

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.

Journal of medical genetics
Avec: Maria Francesca Di Feo , Victoria Lillback , Manu Jokela , Meriel McEntagart , Tessa Homfray , Elisa Giorgio , Guido C Casalis Cavalchini , Alfredo Brusco , Luigina Spaccini , Patrizia D'Oria , Marco Savarese , Bjarne Udd

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

American journal of human genetics
Avec: Dmitrijs Rots , Taryn E Jakub , Crystal Keung , Adam Jackson , Siddharth Banka , Rolph Pfundt , Bert B A de Vries , Richard H van Jaarsveld , Saskia M J Hopman , Ellen van Binsbergen , Irene Valenzuela , Maja Hempel , Tatjana Bierhals , Fanny Kortüm , Francois Lecoquierre , Alice Goldenberg , Jens Michael Hertz , Charlotte Brasch Andersen , Maria Kibæk , Eloise J Prijoles , Roger E Stevenson , David B Everman , Wesley G Patterson , Linyan Meng , Charul Gijavanekar , Karl De Dios , Shenela Lakhani , Tess Levy , Matias Wagner , Dagmar Wieczorek , Paul J Benke , María Soledad Lopez Garcia , Renee Perrier , Sergio B Sousa , Pedro M Almeida , Maria José Simões , Bertrand Isidor , Wallid Deb , Andrew A Schmanski , Omar Abdul-Rahman , Christophe Philippe , Ange-Line Bruel , Laurence Faivre , Antonio Vitobello , Christel Thauvin , Jeroen J Smits , Livia Garavelli , Stefano G Caraffi , Francesca Peluso , Laura Davis-Keppen , Dylan Platt , Erin Royer , Lisette Leeuwen , Margje Sinnema , Alexander P A Stegmann , Constance T R M Stumpel , George E Tiller , Daniëlle G M Bosch , Stephanus T Potgieter , Shelagh Joss , Miranda Splitt , Simon Holden , Matina Prapa , Nicola Foulds , Sofia Douzgou , Kaija Puura , Regina Waltes , Andreas G Chiocchetti , Christine M Freitag , F Kyle Satterstrom , Silvia De Rubeis , Joseph Buxbaum , Bruce D Gelb , Aleksic Branko , Itaru Kushima , Jennifer Howe , Stephen W Scherer , Alessia Arado , Chiara Baldo , Olivier Patat , Demeer Bénédicte , Diego Lopergolo , Filippo M Santorelli , Tobias B Haack , Andreas Dufke , Miriam Bertrand , Ruth J Falb , Angelika Rieß , Peter Krieg , Stephanie Spranger , Maria Francesca Bedeschi , Sarah Josephi-Taylor , Tony Roscioli , Michael F Buckley , Jan Liebelt , Aditi I Dagli , Emmelien Aten , Anna C E Hurst , Alesha Hicks , Mohnish Suri , Ermal Aliu , Sunil Naik , Richard Sidlow , Juliette Coursimault , Gaël Nicolas , Hanna Küpper , Florence Petit , Veyan Ibrahim , Deniz Top , Francesca Di Cara , Auteur inconnu , Raymond J Louie , Elliot Stolerman , Han G Brunner , Lisenka E L M Vissers , Jamie M Kramer , Tjitske Kleefstra

Infantile

JPGN reports
Avec: Emanuele Nicastro , Angelo Di Giorgio , Jernej Brecelj , Raffaella Petruzzelli , Roman S Polishchuk , Maesha Deheragoda , Bart E Wagner , Aurelio Sonzogni , Ezio Bonanomi , Lorenzo D'Antiga

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.

European journal of human genetics : EJHG
Avec: Jesse B Hayesmoore , Zahurul A Bhuiyan , Domenico A Coviello , Desirée du Sart , Matthew Edwards , Deborah J Morris-Rosendahl , Katie Sheils , Marjon van Slegtenhorst , Kate L Thomson

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.

Neurogenetics
Avec: Federica Teutonico , Clara Volpe , Alice Proto , Ilaria Costi , Ugo Cavallari , Paola Doneda , Luisella Sturiale , Rita Barone , Stefano Martinelli , Aglaia Vignoli

Monoallelic de novo

Science advances
Avec: Simon Früh , Sami Boudkkazi , Peter Koppensteiner , Vita Sereikaite , Li-Yuan Chen , Diego Fernandez-Fernandez , Pascal D Rem , Daniel Ulrich , Jochen Schwenk , Ziyang Chen , Elodie Le Monnier , Thorsten Fritzius , Sabrina M Innocenti , Valérie Besseyrias , Luca Trovò , Michal Stawarski , Emanuela Argilli , Elliott H Sherr , Bregje van Bon , Erik-Jan Kamsteeg , Alba Pilotta , Maria R Cutrì , Mahshid S Azamian , Andrés Hernández-García , Seema R Lalani , Jill A Rosenfeld , Xiaonan Zhao , Tiphanie P Vogel , Herda Ona , Daryl A Scott , Peter Scheiffele , Kristian Strømgaard , Mehdi Tafti , Martin Gassmann , Bernd Fakler , Ryuichi Shigemoto , Bernhard Bettler

Novel Genetic Variant in

Neurology. Genetics
Avec: Mario Tortora , Elisa Cattaneo , Luigina Spaccini , Barbara Scelsa , Alessia Micalizzi , Antonio Novelli , Mariano Lanna , Andrea Righini , Pierangelo Veggiotti , Chiara Doneda

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Clinical genetics
Avec: Sara C Reichert , Rachel Li , Scott A Turner , Richard H van Jaarsveld , Maarten P G Massink , Marie-José H van den Boogaard , Mireia Del Toro , Agustí Rodríguez-Palmero , Stéphane Fourcade , Agatha Schlüter , Laura Planas-Serra , Aurora Pujol , Silvia Maitz , Lucy Loong , Helen Stewart , Elisa De Franco , Sian Ellard , Julie Frank , Raymond Lewandowski

Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Molecular genetics & genomic medicine
Avec: Catia Mio , Federico Fogolari , Laura Pezzoli , Angela V D'Elia , Giuseppe Damante

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Molecular genetics & genomic medicine
Avec: Lidia Pezzani , Laura Pezzoli , Alessandra Pansa , Barbara Facchinetti , Daniela Marchetti , Agnese Scatigno , Anna R Lincesso , Loredana Perego , Monica Pingue , Isabella Pellicioli , Lucia Migliazza , Giovanna Mangili , Lorenzo Galletti , Ursula Giussani , Ezio Bonanomi , Anna Cereda ,

ATP8A2-related disorders as recessive cerebellar ataxia.

Journal of neurology
Avec: Claire Guissart , Alexander N Harrison , Mehdi Benkirane , Ibrahim Oncel , Elif Acar Arslan , Anna K Chassevent , Kristin Baraῆano , Lise Larrieu , Romano Tenconi , Mireille Claustres , Nesibe Eroglu-Ertugrul , Patrick Calvas , Haluk Topaloglu , Robert S Molday , Michel Koenig

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

American journal of medical genetics. Part A
Avec: Caroline Dias , Rolph Pfundt , Tjitske Kleefstra , Janneke Shuurs-Hoeijmakers , Elles M J Boon , Johanna M van Hagen , Petra Zwijnenburg , Marjan M Weiss , Boris Keren , Cyril Mignot , Arnaud Isapof , Karin Weiss , Tova Hershkovitz , Silvia Maitz , René G Feichtinger , Dieter Kotzot , Johannes A Mayr , Tawfeg Ben-Omran , Laila Mahmoud , Lynn S Pais , Christopher A Walsh , Vandana Shashi , Jennifer A Sullivan , Nicholas Stong , Francois Lecoquierre , Anne-Marie Guerrot , Aude Charollais , Lance H Rodan

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine
Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.

American journal of medical genetics. Part A
Avec: Tommaso Lo Barco , Elisa Osanni , Andrea Bordugo , Giulia Rodella , Romano Tenconi , Rita Barone , Bernardo Dalla Bernardina , Gaetano Cantalupo

Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child.

Genes
Avec: Martha Caterina Faraguna , Francesca Musto , Viola Crescitelli , Luigina Spaccini , Davide Tonduti , Tiziana Fedeli , Gaia Kullmann , Francesco Canonico , Alessandro Cattoni , Fabiola Dell'Acqua , Carmelo Rizzari , Serena Gasperini

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Thomas , Thierry Gautier , Dana Marafi , Thomas Besnard , Marjolaine Willems , Sébastien Moutton , Bertand Isidor , Benjamin Cogné , Solène Conrad , Romano Tenconi , Arthur Sorlin , Alice Masurel , Tabib Dabir , Adam Jackson , Siddharth Banka , Julian Delanne , James R Lupski , Nebal Waill Saadi , Fowzan S Alkuraya , Fatema Al Zahrani , Pankaj B Agrawal , Eleina England , Jill A Madden , Jennifer E Posey , Lydie Burglen , Diana Rodriguez , Martin Chevarin , Sylvie Nguyen , Frédéric Tran Mau-Them , Yannis Duffourd , Philippine Garret , Ange-Line Bruel , Patrick Callier , Nathalie Marle , Anne-Sophie Denomme-Pichon , Laurence Duplomb , Christophe Philippe , Christel Thauvin-Robinet , Jérôme Govin , Laurence Faivre , Antonio Vitobello

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

Brain : a journal of neurology
Avec: Edgard Verdura , Agustí Rodríguez-Palmero , Valentina Vélez-Santamaria , Laura Planas-Serra , Irene de la Calle , Miquel Raspall-Chaure , Agathe Roubertie , Mehdi Benkirane , Francesco Saettini , Lisa Pavinato , Giorgia Mandrile , Melanie O'Leary , Emily O'Heir , Estibaliz Barredo , Almudena Chacón , Vincent Michaud , Cyril Goizet , Montserrat Ruiz , Agatha Schlüter , Isabelle Rouvet , Julia Sala-Coromina , Chiara Fossati , Francesco Canonico , Anna Marcé-Grau , Precilla de Souza , David R Adams , Carlos Casasnovas , Heidi L Rehm , Heather C Mefford , Luis González Gutierrez-Solana , Alfredo Brusco , Michel Koenig , Alfons Macaya , Aurora Pujol

Severe Epilepsy and Movement Disorder May Be Early Symptoms of

Neurology. Genetics
Avec: Roberta Solazzi , Marco Moscatelli , Davide Rossi Sebastiano , Laura Canafoglia , Laura Pezzoli , Tiziana Granata

[Clinical pathway on pediatric cardiomyopathies: a genetic testing strategy proposed by the Italian Society of Pediatric Cardiology].

Giornale italiano di cardiologia (2006)
Avec: Francesca Girolami , Laura Pezzoli , Silvia Passantino , Giuseppe Limongelli , Emanuele Monda , Marta Rubino , Rachele Adorisio , Maristella Lombardi , Luca Ragni , Iacopo Olivotto , Silvia Favilli , Auteur inconnu

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.

HGG advances
Avec: Lot Snijders Blok , Jolijn Verseput , Dmitrijs Rots , Hanka Venselaar , A Micheil Innes , Connie Stumpel , Katrin Õunap , Karit Reinson , Eleanor G Seaby , Shane McKee , Barbara Burton , Katherine Kim , Johanna M van Hagen , Quinten Waisfisz , Pascal Joset , Katharina Steindl , Anita Rauch , Dong Li , Elaine H Zackai , Sarah E Sheppard , Beth Keena , Hakon Hakonarson , Andreas Roos , Nicolai Kohlschmidt , Anna Cereda , Erika Rebessi , Kristin D Kernohan , Philippe M Campeau , Francisca Millan , Jesse A Taylor , Hanns Lochmüller , Martin R Higgs , Amalia Goula , Birgitta Bernhard , Danita J Velasco , Andrew A Schmanski , Zornitza Stark , Lyndon Gallacher , Lynn Pais , Paul C Marcogliese , Shinya Yamamoto , Nicholas Raun , Taryn E Jakub , Jamie M Kramer , Joery den Hoed , Simon E Fisher , Han G Brunner , Tjitske Kleefstra

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 , Lionel Van Maldergem , Sunita Venkateswaran , Orsetta Zuffardi , Samantha Vergano , Livia Garavelli , Allan Bayat

Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes.

Cardiovascular research
Avec: Patrizia Benzoni , Giulia Campostrini , Sara Landi , Valeria Bertini , Eleonora Marchina , Gustav Ahlberg , Morten Salling Olesen , Elisabetta Crescini , Cristina Mora , Gianluigi Bisleri , Claudio Muneretto , Roberto Ronca , Marco Presta , Pier Luigi Poliani , Giovanna Piovani , Rosanna Verardi , Elisa Di Pasquale , Antonella Consiglio , Angel Raya , Eleonora Torre , Alessandra Maria Lodrini , Raffaella Milanesi , Marcella Rocchetti , Mirko Baruscotti , Dario DiFrancesco , Maurizio Memo , Andrea Barbuti , Patrizia Dell'Era

Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.

Glycobiology
Avec: Rossella Indellicato , Rossella Parini , Ruben Domenighini , Nadia Malagolini , Serena Gasperini , Nicoletta Masera , Fabio dall'Olio , Marco Trinchera

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

American journal of human genetics
Avec: Dongxue Mao , Chloe M Reuter , Maura R Z Ruzhnikov , Anita E Beck , Emily G Farrow , Lisa T Emrick , Jill A Rosenfeld , Katherine M Mackenzie , Laurie Robak , Matthew T Wheeler , Lindsay C Burrage , Mahim Jain , Pengfei Liu , Daniel Calame , Sébastien Küry , Martin Sillesen , Klaus Schmitz-Abe , Davide Tonduti , Luigina Spaccini , Casie A Genetti , Mary K Koenig , Madeline Graf , Alyssa Tran , Mercedes Alejandro , Auteur inconnu , Brendan H Lee , Isabelle Thiffault , Pankaj B Agrawal , Jonathan A Bernstein , Hugo J Bellen , Hsiao-Tuan Chao

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Silvia Masnada , Cecilia Parazzini , Paolo Bini , Mario Barbarini , Luisella Alberti , Marialuisa Valente , Luisa Chiapparini , Annalisa De Silvestri , Chiara Doneda , Laura Assunta Saielli , Cristina Cereda , Pierangelo Veggiotti , Carlo Corbetta , Davide Tonduti

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Theresa Brunet , Kirsty McWalter , Katharina Mayerhanser , Grace M Anbouba , Amy Armstrong-Javors , Ingrid Bader , Evan Baugh , Amber Begtrup , Caleb P Bupp , Bert L Callewaert , Anna Cereda , Margot A Cousin , Juan C Del Rey Jimenez , Laurie Demmer , Nikita R Dsouza , Nicole Fleischer , Ralitza H Gavrilova , Sumedha Ghate , Elisabeth Graf , Andrew Green , Sarah R Green , Ameni Kdissa , Dirk Klee , Eric W Klee , Emily Lancaster , Kristin Lindstrom , Johannes A Mayr , Meriel McEntagart , Naomi J L Meeks , Dana Mittag , Harrison Moore , Anne K Olsen , Damara Ortiz , Gretchen Parsons , Loren D M Pena , Richard E Person , Sumit Punj , Gonzalo Alonso Ramos-Rivera , Maria J Guillen Sacoto , G Bradley Schaefer , Rhonda E Schnur , Tiana M Scott , Daryl A Scott , Carolyn R Serbinski , Vandana Shashi , Victoria M Siu , Barbro Fossøy Stadheim , Jennifer A Sullivan , Jana Švantnerová , Lea Velsher , David S Wargowski , Ingrid M Wentzensen , Dagmar Wieczorek , Juliane Winkelmann , Patrick Yap , Michael Zech , Michael T Zimmermann , Thomas Meitinger , Felix Distelmaier , Matias Wagner

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.

Cell death discovery
Avec: Paolo Grazioli , Chiara Parodi , Milena Mariani , Daniele Bottai , Elisabetta Di Fede , Aida Zulueta , Laura Avagliano , Anna Cereda , Romano Tenconi , Jolanta Wierzba , Raffaella Adami , Paola Francesca Ajmone , Thomas Vaccari , Cristina Gervasini , Angelo Selicorni , Valentina Massa

Congenital Muscular Mitral-Aortic Discontinuity Identified in Patients With Obstructive Hypertrophic Cardiomyopathy.

Journal of the American College of Cardiology
Avec: Paolo Ferrazzi , Paolo Spirito , Irene Binaco , Aleksei Zyrianov , Daniele Poggio , Giuseppe Vaccari , Massimiliano Grillo , Laura Pezzoli , Agnese Scatigno , Lucian Dorobantu , Andrea Mortara , Paolo Bruzzi , Luca Boni ,

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR
Avec: P A Mulder , I D C van Balkom , A M Landlust , M Priolo , L A Menke , I H Acero , F S Alkuraya , P Arias , L Bernardini , E K Bijlsma , T Cole , C Coubes , I Dapia , S Davies , N Di Donato , N H Elcioglu , J A Fahrner , A Foster , N G González , I Huber , M Iascone , A-S Kaiser , A Kamath , K Kooblall , P Lapunzina , J Liebelt , S A Lynch , S M Maas , C Mammì , I B Mathijssen , S McKee , G M Mirzaa , T Montgomery , D Neubauer , T E Neumann , L Pintomalli , M A Pisanti , A S Plomp , S Price , C Salter , F Santos-Simarro , P Sarda , D Schanze , M Segovia , C Shaw-Smith , S Smithson , M Suri , K Tatton-Brown , J Tenorio , R V Thakker , R M Valdez , A Van Haeringen , J M Van Hagen , M Zenker , M Zollino , W W Dunn , S Piening , R C Hennekam

Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.

American journal of medical genetics. Part A
Avec: Francesco Saettini , Grazia Fazio , Maria Teresa Bonati , Daniele Moratto , Valentina Massa , Elisabetta Di Fede , Silvia Castiglioni , Daniela Marchetti , Marco Chiarini , Alessandra Sottini , Giovanni Cazzaniga , Luisa Imberti , Andrea Biondi , Cristina Gervasini , Raffaele Badolato

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.

Frontiers in neurology
Avec: Eleonora Bonaventura , Luisella Alberti , Simona Lucchi , Laura Cappelletti , Salvatore Fazzone , Elisa Cattaneo , Matteo Bellini , Giana Izzo , Cecilia Parazzini , Alessandra Bosetti , Elisabetta Di Profio , Giulia Fiore , Matilde Ferrario , Chiara Mameli , Arianna Sangiorgio , Silvia Masnada , Gian Vincenzo Zuccotti , Pierangelo Veggiotti , Luigina Spaccini , Elvira Verduci , Cristina Cereda , Davide Tonduti , Auteur inconnu

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.

Frontiers in genetics
Avec: Ilaria Bestetti , Milena Crippa , Alessandra Sironi , Matteo Bellini , Francesca Tumiatti , Sara Ballabio , Ferruccio Ceriotti , Luigi Memo , Lidia Larizza , Palma Finelli

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Richard H van Jaarsveld , Jack Reilly , Marie-Claire Cornips , Michael A Hadders , Emanuele Agolini , Priyanka Ahimaz , Kwame Anyane-Yeboa , Severine Audebert Bellanger , Ellen van Binsbergen , Marie-Jose van den Boogaard , Elise Brischoux-Boucher , Raymond C Caylor , Andrea Ciolfi , Ton A J van Essen , Paolo Fontana , Saskia Hopman , Margaret M Javier , Erik-Jan Kamsteeg , Jennifer Kerkhof , Jun Kido , Hyung-Goo Kim , Tjitske Kleefstra , Fortunato Lonardo , Abbe Lai , Dorit Lev , Michael A Levy , M E Suzanne Lewis , Angie Lichty , Marcel M A M Mannens , Naomichi Matsumoto , Idit Maya , Haley McConkey , Andre Megarbane , Vincent Michaud , Evelina Miele , Marcello Niceta , Antonio Novelli , Roberta Onesimo , Rolph Pfundt , Bernt Popp , Eloise Prijoles , Raissa Relator , Sylvia Redon , Dmitrijs Rots , Karen Rouault , Ken Saida , Jolanda Schieving , Marco Tartaglia , Romano Tenconi , Kevin Uguen , Nienke Verbeek , Christopher A Walsh , Keren Yosovich , Christopher J Yuskaitis , Giuseppe Zampino , Bekim Sadikovic , Mariëlle Alders , Renske Oegema

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

European journal of human genetics : EJHG
Avec: Giulia Rodari , Roberta Villa , Matteo Porro , Silvana Gangi , Francesca Elli , Federico Giacchetti , Eriselda Profka , Valentina Collini , Alberta Dall'Antonia , Maura Arosio , Giovanna Mantovani , Maria Francesca Bedeschi , Claudia Giavoli

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.

Molecular syndromology
Avec: Sebastiano Aleo , Lidia Pezzani , Donatella Milani , Laura Pezzoli , Paola Marchisio ,

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Nature communications
Avec: Giulia Fasano , Valentina Muto , Francesca Clementina Radio , Martina Venditti , Niloufar Mosaddeghzadeh , Simona Coppola , Graziamaria Paradisi , Erika Zara , Farhad Bazgir , Alban Ziegler , Giovanni Chillemi , Lucia Bertuccini , Antonella Tinari , Annalisa Vetro , Francesca Pantaleoni , Simone Pizzi , Libenzio Adrian Conti , Stefania Petrini , Alessandro Bruselles , Ingrid Guarnetti Prandi , Cecilia Mancini , Balasubramanian Chandramouli , Magalie Barth , Céline Bris , Donatella Milani , Angelo Selicorni , Marina Macchiaiolo , Michaela V Gonfiantini , Andrea Bartuli , Riccardo Mariani , Cynthia J Curry , Renzo Guerrini , Anne Slavotinek , Bruno Dallapiccola , Mohammad Reza Ahmadian , Antonella Lauri , Marco Tartaglia

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

American journal of human genetics
Avec: Manuela Morleo , Rossella Venditti , Evangelos Theodorou , Lauren C Briere , Marion Rosello , Alfonsina Tirozzi , Roberta Tammaro , Nour Al-Badri , Frances A High , Jiahai Shi , Auteur inconnu , Auteur inconnu , Elena Putti , Luigi Ferrante , Viviana Cetrangolo , Annalaura Torella , Melissa A Walker , Romano Tenconi , Davide Mei , Renzo Guerrini , Jasper van der Smagt , Hester Y Kroes , Koen L I van Gassen , Muhammad Bilal , Muhammad Umair , Veronica Pingault , Tania Attie-Bitach , Jeannine Amiel , Resham Ejaz , Lance Rodan , Marcella Zollino , Pankaj B Agrawal , Filippo Del Bene , Vincenzo Nigro , David A Sweetser , Brunella Franco

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

European journal of human genetics : EJHG
Avec: Dario Ronchi , Manuela Garbellini , Francesca Magri , Francesca Menni , Megi Meneri , Maria Francesca Bedeschi , Robertino Dilena , Valeria Cecchetti , Irene Picciolli , Francesca Furlan , Valentina Polimeni , Sabrina Salani , Laura Pezzoli , Francesco Fortunato , Matteo Bellini , Daniela Piga , Michela Ripolone , Simona Zanotti , Laura Napoli , Patrizia Ciscato , Monica Sciacco , Giovanna Mangili , Fabio Mosca , Stefania Corti , Giacomo Pietro Comi

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

European journal of human genetics : EJHG
Avec: Henry Oppermann , Elia Marcos-Grañeda , Linnea A Weiss , Christina A Gurnett , Anne Marie Jelsig , Susanne H Vineke , Bertrand Isidor , Sandra Mercier , Kari Magnussen , Pia Zacher , Mona Hashim , Alistair T Pagnamenta , Simone Race , Siddharth Srivastava , Zoë Frazier , Robert Maiwald , Matthias Pergande , Donatella Milani , Martina Rinelli , Jonathan Levy , Ilona Krey , Paolo Fontana , Fortunato Lonardo , Stephanie Riley , Jasmine Kretzer , Julia Rankin , Linda M Reis , Elena V Semina , Miriam S Reuter , Stephen W Scherer , Denisa Weis , Christina R Fagerberg , Charlotte Brasch-Andersen , Lars Kjaersgaard Hansen , Alma Kuechler , Nathan Noble , Alice Gardham , Jessica Tenney , Geetanjali Rathore , Stefanie Beck-Woedl , Tobias B Haack , Despoina C Pavlidou , Isis Atallah , Julia Vodopiutz , Andreas R Janecke , Tzung-Chien Hsieh , Hellen Lesmann , Hannah Klinkhammer , Peter M Krawitz , Johannes R Lemke , Rami Abou Jamra , Marta Nieto , Zeynep Tümer , Konrad Platzer

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

American journal of human genetics
Avec: Remzi Karayol , Maria Carla Borroto , Sadegheh Haghshenas , Anoja Namasivayam , Jack Reilly , Michael A Levy , Raissa Relator , Jennifer Kerkhof , Haley McConkey , Maria Shvedunova , Andrea K Petersen , Kari Magnussen , Christiane Zweier , Georgia Vasileiou , André Reis , Juliann M Savatt , Meghan R Mulligan , Louise S Bicknell , Gemma Poke , Aya Abu-El-Haija , Jessica Duis , Vickie Hannig , Siddharth Srivastava , Elizabeth Barkoudah , Natalie S Hauser , Myrthe van den Born , Uri Hamiel , Noa Henig , Hagit Baris Feldman , Shane McKee , Ingrid P C Krapels , Yunping Lei , Albena Todorova , Ralitsa Yordanova , Slavena Atemin , Mihael Rogac , Vivienne McConnell , Anna Chassevent , Kristin W Barañano , Vandana Shashi , Jennifer A Sullivan , Angela Peron , Maria P Canevini , Jennifer Friedman , Iris A Reyes , Janell Kierstein , Joseph J Shen , Faria N Ahmed , Xiao Mao , Berta Almoguera , Fiona Blanco-Kelly , Konrad Platzer , Ariana-Berenike Treu , Juliette Quilichini , Alexia Bourgois , Nicolas Chatron , Louis Januel , Christelle Rougeot , Deanna Alexis Carere , Kristin G Monaghan , Justine Rousseau , Kenneth A Myers , Bekim Sadikovic , Asifa Akhtar , Philippe M Campeau

Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.

Italian journal of pediatrics
Avec: Irene Picciolli , Angelo Ratti , Berardo Rinaldi , Anwar Baban , Gaia Francescato , Alessia Cappelleri , Monia Magliozzi , Antonio Novelli , Giovanni Parlapiano , Anna Maria Colli , Nicola Persico , Stefano Carugo , Fabio Mosca , Maria Francesca Bedeschi

A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.

Genes
Avec: Maria Teresa Bonati , Cristina Baldoli , Jacopo Taurino , Daniela Marchetti , Lidia Larizza , Palma Finelli ,

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics
Avec: Maya Chopra , Meriel McEntagart , Jill Clayton-Smith , Konrad Platzer , Anju Shukla , Katta M Girisha , Anupriya Kaur , Parneet Kaur , Rolph Pfundt , Hermine Veenstra-Knol , Grazia M S Mancini , Gerarda Cappuccio , Nicola Brunetti-Pierri , Fanny Kortüm , Maja Hempel , Jonas Denecke , Anna Lehman , Auteur inconnu , Tjitske Kleefstra , Kyra E Stuurman , Martina Wilke , Michelle L Thompson , E Martina Bebin , Emilia K Bijlsma , Mariette J V Hoffer , Cacha Peeters-Scholte , Anne Slavotinek , William A Weiss , Tiffany Yip , Ugur Hodoglugil , Amy Whittle , Janette diMonda , Juanita Neira , Sandra Yang , Amelia Kirby , Hailey Pinz , Rosan Lechner , Frank Sleutels , Ingo Helbig , Sarah McKeown , Katherine Helbig , Rebecca Willaert , Jane Juusola , Jennifer Semotok , Medard Hadonou , John Short , Auteur inconnu , Naomi Yachelevich , Sajel Lala , Alberto Fernández-Jaen , Janvier Porta Pelayo , Chiara Klöckner , Susanne B Kamphausen , Rami Abou Jamra , Maria Arelin , A Micheil Innes , Anni Niskakoski , Sam Amin , Maggie Williams , Julie Evans , Sarah Smithson , Damian Smedley , Anna de Burca , Usha Kini , Martin B Delatycki , Lyndon Gallacher , Alison Yeung , Lynn Pais , Michael Field , Ellenore Martin , Perrine Charles , Thomas Courtin , Boris Keren , Anna Cereda , Gemma Poke , Véronique Abadie , Christel Chalouhi , Padmini Parthasarathy , Benjamin J Halliday , Stephen P Robertson , Stanislas Lyonnet , Jeanne Amiel , Christopher T Gordon

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

Journal of human genetics
Avec: Davide Tonduti , Eleonora Mura , Silvia Masnada , Enrico Bertini , Chiara Aiello , Daniela Zini , Lucio Parmeggiani , Gaetano Cantalupo , Giacomo Talenti , Pierangelo Veggiotti , Luigina Spaccini , Cecilia Parazzini

A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.

Glycobiology
Avec: Rossella Indellicato , Ruben Domenighini , Nadia Malagolini , Anna Cereda , Daniela Mamoli , Lidia Pezzani , Fabio dall'Olio , Marco Trinchera

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.

Molecular genetics & genomic medicine
Avec: Barbara Scelsa , Serena Gasperini , Andrea Righini , Valeria G Brazzoduro , Pierangelo Veggiotti

Heart transplantation in Danon disease: Long term single centre experience and review of the literature.

European journal of medical genetics
Avec: Concetta Di Nora , Daniela Miani , Angela Valentina D'Elia , Stefano Poli , Gaetano Nucifora , Nicoletta Finato , Sandro Sponga , Alessandro Proclemer , Ugolino Livi

Familial Sleep Disorders in Unknown Genetic Syndrome.

Journal of pediatric genetics
Avec: Mara Lelii , Elena Baggi , Laura Senatore , Maria Francesca Bedeschi , Robertino Dilena , Silvana Gangi , Paola Marchisio , Maria Francesca Patria

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

American journal of human genetics
Avec: Lisenka E L M Vissers , Sreehari Kalvakuri , Elke de Boer , Sinje Geuer , Machteld Oud , Inge van Outersterp , Michael Kwint , Melde Witmond , Simone Kersten , Daniel L Polla , Dilys Weijers , Amber Begtrup , Kirsty McWalter , Anna Ruiz , Elisabeth Gabau , Jenny E V Morton , Christopher Griffith , Karin Weiss , Candace Gamble , James Bartley , Hilary J Vernon , Kendra Brunet , Claudia Ruivenkamp , Sarina G Kant , Paul Kruszka , Austin Larson , Alexandra Afenjar , Thierry Billette de Villemeur , Kimberly Nugent , Auteur inconnu , F Lucy Raymond , Hanka Venselaar , Florence Demurger , Claudia Soler-Alfonso , Dong Li , Elizabeth Bhoj , Ian Hayes , Nina Powell Hamilton , Ayesha Ahmad , Rachel Fisher , Myrthe van den Born , Marjolaine Willems , Arthur Sorlin , Julian Delanne , Sebastien Moutton , Philippe Christophe , Frederic Tran Mau-Them , Antonio Vitobello , Himanshu Goel , Lauren Massingham , Chanika Phornphutkul , Jennifer Schwab , Boris Keren , Perrine Charles , Maaike Vreeburg , Lenika De Simone , George Hoganson , Donatella Milani , Lucie Evenepoel , Nicole Revencu , D Isum Ward , Kaitlyn Burns , Ian Krantz , Sarah E Raible , Jill R Murrell , Kathleen Wood , Megan T Cho , Hans van Bokhoven , Maximilian Muenke , Tjitske Kleefstra , Rolf Bodmer , Arjan P M de Brouwer

Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.

Neuropediatrics
Avec: Enrico Alfei , Elisa Cattaneo , Luigina Spaccini , Pierangelo Veggiotti , Chiara Doneda

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Molecular genetics & genomic medicine
Avec: Federica Ruscitti , Lucia Trevisan , Giulia Rosti , Fabio Gotta , Annalia Cianflone , Alessandro Geroldi , Paola Origone , Anna Pichiecchio , Simona Viglio , Paola Mandich

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics
Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
Avec: Giusy Ranucci , Claudia Della Corte , Daniele Alberti , Maria Pia Bondioni , Giovanni Boroni , Pier Luigi Calvo , Mara Cananzi , Manila Candusso , Maria Grazia Clemente , Lorenzo D'Antiga , Irene Degrassi , Jean De Ville De Goyet , Fabiola Di Dato , Angelo Di Giorgio , Carlo Dionisi Vici , Federica Ferrari , Paola Francalanci , Maurizio Fuoti , Fabio Fusaro , Paola Gaio , Chiara Grimaldi , Giuseppe Indolfi , Raffaele Iorio , Giuseppe Maggiore , Claudia Mandato , Lorenza Matarazzo , Lidia Monti , Fabio Mosca , Gabriella Nebbia , Federica Nuti , Giulia Paolella , Michele Pinon , Paola Roggero , Marco Sciveres , Daniele Serranti , Marco Spada , Pietro Vajro , Emanuele Nicastro

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Journal of cardiovascular development and disease
Avec: Laura Pezzoli , Lidia Pezzani , Ezio Bonanomi , Chiara Marrone , Agnese Scatigno , Anna Cereda , Maria Francesca Bedeschi , Angelo Selicorni , Serena Gasperini , Paolo Bini , Silvia Maitz , Carla Maccioni , Cristina Pedron , Lorenzo Colombo , Daniela Marchetti , Matteo Bellini , Anna Rita Lincesso , Loredana Perego , Monica Pingue , Nunzia Della Malva , Giovanna Mangili , Paolo Ferrazzi ,

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Prenatal diagnosis
Avec: Luisa Ronzoni , Simona Boito , Camilla Meossi , Claudia Cesaretti , Berardo Rinaldi , Emanuele Agolini , Tommaso Rizzuti , Laura Pezzoli , Rosamaria Silipigni , Antonio Novelli , Nicola Persico , Federica Natacci

Réseau de co-auteurs

None None 16 collaborations
Laura Pezzoli 14 collaborations
Maria Francesca Bedeschi 14 collaborations
Anna Cereda 14 collaborations
Luigina Spaccini 11 collaborations
Daniela Marchetti 9 collaborations
Romano Tenconi 8 collaborations
Antonio Novelli 8 collaborations
Pierangelo Veggiotti 8 collaborations
Lidia Pezzani 8 collaborations
Angelo Selicorni 7 collaborations
Silvia Maitz 7 collaborations
Marco Tartaglia 7 collaborations
Davide Tonduti 7 collaborations
Tjitske Kleefstra 7 collaborations
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Antonio Vitobello 6 collaborations
Lynn Pais 5 collaborations
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Roberta Villa 4 collaborations
Milena Mariani 4 collaborations
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Marcello Niceta 4 collaborations
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