J
Johanna L. Schmidt
Researcher at Children's National Medical Center
Publications - 25
Citations - 2265
Johanna L. Schmidt is an academic researcher from Children's National Medical Center. The author has contributed to research in topics: Exome sequencing & Leukodystrophy. The author has an hindex of 15, co-authored 25 publications receiving 1833 citations. Previous affiliations of Johanna L. Schmidt include Children's Hospital of Philadelphia & George Washington University.
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Journal ArticleDOI
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I. Rice,Paul R. Kasher,Gabriella Forte,Niamh M. Mannion,Sam M. Greenwood,Marcin Szynkiewicz,Jonathan E. Dickerson,Sanjeev S. Bhaskar,Massimiliano Zampini,Tracy A Briggs,Emma M. Jenkinson,Carlos A. Bacino,Roberta Battini,Enrico Bertini,Paul A. Brogan,Louise Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia Del Toro,Isabelle Desguerre,Elisa Fazzi,Angels García-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram L. Kumar,Jean-Pierre Lin,Charles Marques Lourenço,Alison Male,Wilson Marques,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert Robinson,Flore Rozenberg,Johanna L. Schmidt,Katharina Steindl,Tiong Yang Tan,William G. Van Der Merwe,Adeline Vanderver,Grace Vassallo,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,John H. Livingston,Pierre Lebon,Tamio Suzuki,Paul J. McLaughlin,Liam Keegan,Mary A O'Connell,Simon C. Lovell,Yanick J. Crow +53 more
TL;DR: It is shown that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome (AGS), and it is speculated that ADar1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.
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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Gillian I. Rice,Gabriella Forte,Marcin Szynkiewicz,Diana Chase,Alec Aeby,Mohamed S Abdel-Hamid,Sam Ackroyd,Rebecca L. Allcock,Kathryn Bailey,Umberto Balottin,Christine Barnerias,Geneviève Bernard,Christine Bodemer,Maria P. Botella,Cristina Cereda,Kate Chandler,Lyvia Dabydeen,Russell C. Dale,Corinne De Laet,Christian de Goede,Mireia Del Toro,Laila Effat,Noemi Nunez Enamorado,Elisa Fazzi,Blanca Gener,Madli Haldre,Jean-Pierre S-M Jp Lin,John Jh Livingston,Charles Marques Lourenço,Wilson Marques,Patrick J. Oades,Pärt Peterson,Magnhild Rasmussen,Agathe Roubertie,Johanna L. Schmidt,Stavit A. Shalev,Rogelio Simon,Ronen Spiegel,Kathryn Kj Swoboda,Samia Sa Temtamy,Grace Vassallo,Catheline Vilain,Julie Vogt,Vanessa Wermenbol,William Wp Whitehouse,Doriette Soler,Ivana Olivieri,Simona Orcesi,Mona Ms Aglan,Maha S. Zaki,Ghada Gm Abdel-Salam,Adeline Vanderver,Kai Kisand,Flore Rozenberg,Pierre Lebon,Yanick J. Crow,Yanick J. Crow +56 more
TL;DR: AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls, and neutralisation assays suggested that measurable antiviral activity was related toInterferon α production.
Journal ArticleDOI
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
Cas Simons,Nicole I. Wolf,Nathan McNeil,Ljubica Caldovic,Joseph M. Devaney,Asako Takanohashi,Joanna Crawford,Kelin Ru,Sean M. Grimmond,David Miller,Davide Tonduti,Johanna L. Schmidt,Robert S. Chudnow,Rudy Van Coster,Lieven Lagae,Jill Kisler,Juergen Sperner,Marjo S. van der Knaap,Raphael Schiffmann,Ryan J. Taft,Adeline Vanderver +20 more
TL;DR: Exome sequencing and detailed investigation of one of the family quartets with the singular finding of an H-ABC-affected sibling pair revealed maternal mosaicism for the mutation, suggesting that rare de novo mutations that are initially phenotypically neutral in a mosaic individual can be disease causing in the subsequent generation.
Journal ArticleDOI
Case Definition and Classification of Leukodystrophies and Leukoencephalopathies
Adeline Vanderver,Morgan Prust,Davide Tonduti,Fanny Mochel,Heather M. Hussey,Guy Helman,James Y. Garbern,Florian Eichler,Pierre Labauge,Patrick Aubourg,Diana Rodriguez,Marc C. Patterson,Johan L.K. Van Hove,Johanna L. Schmidt,Nicole I. Wolf,Odile Boespflug-Tanguy,Raphael Schiffmann,Marjo S. van der Knaap +17 more
TL;DR: A case definition of leukodystrophies and classification of heritable white matter disorders will permit more detailed epidemiologic studies of these disorders and help to study the epidemiology and relevance of geneticwhite matter disorders to public health.
Journal ArticleDOI
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Ryan J. Taft,Adeline Vanderver,Richard J. Leventer,Stephen A. Damiani,Cas Simons,Sean M. Grimmond,David Miller,Johanna L. Schmidt,Paul J. Lockhart,Kate Pope,Kelin Ru,Joanna Crawford,Tena Rosser,Irenaeus F.M. de Coo,Monica Juneja,Ishwar Chander Verma,Prab Prabhakar,Susan Blaser,Julian Raiman,Petra J. W. Pouwels,Marianna R. Bevova,Truus E.M. Abbink,Marjo S. van der Knaap,Nicole I. Wolf +23 more
TL;DR: Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology.