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Amy Pizzino
Researcher at Children's Hospital of Philadelphia
Publications - 31
Citations - 1706
Amy Pizzino is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Leukodystrophy & Leukoencephalopathy. The author has an hindex of 16, co-authored 30 publications receiving 1221 citations. Previous affiliations of Amy Pizzino include George Washington University & Royal Children's Hospital.
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Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Nicole I. Wolf,Adeline Vanderver,Rosalina M. L. van Spaendonk,Raphael Schiffmann,Bernard Brais,Marianna Bugiani,Erik A. Sistermans,Coriene E. Catsman-Berrevoets,Johan M. Kros,Pedro Soares Pinto,Daniela Pohl,Sandya Tirupathi,Petter Strømme,Ton de Grauw,Sébastien Fribourg,Michelle Demos,Amy Pizzino,Sakkubai Naidu,Kether Guerrero,Marjo S. van der Knaap,Geneviève Bernard +20 more
TL;DR: Systematic MRI review revealed that the combination of hypomyelination with relative T2 hypointensity of the ventrolateral thalamus, optic radiation, globus pallidus, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum suggests the diagnosis of 4H.
Journal ArticleDOI
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
Sumit Parikh,Geneviève Bernard,Richard J. Leventer,Marjo S. van der Knaap,Johan L.K. Van Hove,Amy Pizzino,Nathan McNeill,Guy Helman,Cas Simons,Johanna L. Schmidt,William B. Rizzo,Marc C. Patterson,Ryan J. Taft,Ryan J. Taft,Ryan J. Taft,Adeline Vanderver,Adeline Vanderver +16 more
TL;DR: A workflow detailing the Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis is presented, including salient clinical features suggesting a specific diagnosis, neuroimaging features and molecular genetic testing.
Journal ArticleDOI
Whole exome sequencing in patients with white matter abnormalities.
Adeline Vanderver,Adeline Vanderver,Cas Simons,Guy Helman,Joanna Crawford,Nicole I. Wolf,Geneviève Bernard,Amy Pizzino,Johanna L. Schmidt,Asako Takanohashi,David M. Miller,David M. Miller,Amirah Khouzam,Vani Rajan,Erica Ramos,Shimul Chowdhury,Tina Hambuch,Kelin Ru,Gregory J. Baillie,Sean M. Grimmond,Sean M. Grimmond,Ljubica Caldovic,Joseph M. Devaney,Miriam Bloom,Sarah H. Evans,Jennifer L. Murphy,Nathan McNeill,Brent L. Fogel,Raphael Schiffmann,Marjo S. van der Knaap,Marjo S. van der Knaap,Ryan J. Taft,Ryan J. Taft,Ryan J. Taft +33 more
TL;DR: Findings provide evidence that WES can substantially decrease the number of unresolved white matter cases, and potentially pathogenic variants were identified in clinically relevant genes in a further 7% of cases.
Journal ArticleDOI
Janus Kinase Inhibition in the Aicardi–Goutières Syndrome
Adeline Vanderver,Laura Adang,Francesco Gavazzi,Katherine McDonald,Guy Helman,David B. Frank,Nicole Jaffe,Sabrina W. Yum,Abigail Collins,Stephanie Keller,Pierre Lebon,Jean-François Meritet,Jullie Rhee,Asako Takanohashi,Thais Armangue,Nicole Ulrick,Omar Sherbini,Jamie Koh,Kyle Peer,Constance Besnier,Carly Scher,Katherine L. Boyle,Holly Dubbs,Julia Kramer-Golinkoff,Amy Pizzino,Sarah Woidill,Justine Shults +26 more
TL;DR: Patients with the Aicardi–Goutieres syndrome, an autosomal recessive disorder that affects the central nervous system, immune system, and skin, have a high level of JAK inhibition.