C
Christopher A. Walsh
Researcher at Howard Hughes Medical Institute
Publications - 470
Citations - 62520
Christopher A. Walsh is an academic researcher from Howard Hughes Medical Institute. The author has contributed to research in topics: Cerebral cortex & Microcephaly. The author has an hindex of 123, co-authored 455 publications receiving 55874 citations. Previous affiliations of Christopher A. Walsh include University of Liverpool & Newcastle University.
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Journal ArticleDOI
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair
John J. Reynolds,Alexandra K. Walker,Edward C. Gilmore,Christopher A. Walsh,Keith W. Caldecott +4 more
TL;DR: All four known MCSZ mutations reduce the cellular stability and level of PNKP protein, with three mutations likely ablating cellular DNA 5′-kinase activity and all of the mutations greatly reducing cellular DNA 3′-phosphatase activity.
Journal ArticleDOI
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
M. Chiara Manzini,M. Chiara Manzini,Danielle Gleason,Danielle Gleason,Bernard S. Chang,R. Sean Hill,R. Sean Hill,Brenda J. Barry,Brenda J. Barry,Jennifer N. Partlow,Jennifer N. Partlow,Annapurna Poduri,Sophie Currier,Patricia Galvin-Parton,Lawrence R. Shapiro,Karen L. Schmidt,Jessica G. Davis,Lina Basel-Vanagaite,Lina Basel-Vanagaite,Mohamed Z. Seidahmed,Mustafa A. Salih,William B. Dobyns,Christopher A. Walsh,Christopher A. Walsh +23 more
TL;DR: Notably, the FCMD gene was a more common cause of WWS than previously expected in the European/American subset of the authors' cohort, including all Ashkenazi Jewish cases, who carried the same founder mutation.
Journal ArticleDOI
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Francesco Brancati,Lorena Travaglini,Lorena Travaglini,D. Zablocka,Eugen Boltshauser,Patrizia Accorsi,G. Montagna,G. Montagna,Jennifer L. Silhavy,Giuseppe Barrano,Giuseppe Barrano,Enrico Bertini,Francesco Emma,Luciana Rigoli,Richard J. Leventer,Padraic Grattan-Smith,Andreas R. Janecke,Marc D'Hooghe,Rudy Van Coster,Karin Dias,Carla Moco,Ana Moreira,Chong Ae Kim,Gustavo Maegawa,Ghada M H Abdel-Salam,Alice Abdel-Aleem,Maha S. Zaki,Itxaso Marti,Susana Quijano-Roy,Pascale de Lonlay,S. Romano,Alain Verloes,Renaud Touraine,Michel Koenig,Clotilde Lagier-Tourenne,Jean Messer,Heike Philippi,Sofia Kitsiou Tzeli,Saevar Halldorsson,Jonina Johannsdottir,Peter Ludvigsson,Shubha R. Phadke,Bernard Stuart,Alex Magee,Dorit Lev,Marina Michelson,Bruria Ben-Zeev,Rita Fischetto,M. Gentile,Silvia Battaglia,Lucio Giordano,Lorenzo Pinelli,Loredana Boccone,Martino Ruggieri,Stefania Bigoni,Alessandra Ferlini,Maria Alice Donati,Elena Procopio,Gianluca Caridi,Francesca Faravelli,Gian Marco Ghiggeri,Silvana Briuglia,Carmelo Salpietro,Gaetano Tortorella,Stefano D'Arrigo,Chiara Pantaleoni,Daria Riva,Graziella Uziel,Anna Maria Laverda,Alberto Permunian,Stefania Maria Bova,Roberta Battini,Maria Roberta Cilio,Marilu Di Sabato,Vincenzo Leuzzi,Pasquale Parisi,Alessandro Simonati,Asma A. Al-Tawari,Laila Bastaki,[No Value] Ahmad,Mirjam M. de Jong,Roshan Koul,Anna Rajab,Matloob Azam,Clara Barbot,Berta Rodriguez,Ignacio Pascual-Castroviejo,Hülya Kayserili,Sinan Comu,Mustafa Akcakus,Lihadh Al Gazali,László Sztriha,David Nicholl,C. Geoffrey Woods,Christopher P. Bennett,Jane A. Hurst,Raoul C.M. Hennekam,Melissa Lees,Saunder Bernes,Henry Sanchez,Aldon E. Clark,Elysa DeMarco,Clement Donahue,Elliot Sherr,Terence D. Sanger,Tomas E. Gallager,William B. Dobyns,Cynthia Daugherty,Kalpathy S. Krishnamoorthy,Dean Sarco,Christopher A. Walsh,Trudy McKanna,Joanne Milisa,Wendy K. Chung,Darryl C. De Vivo,Hillary Raynes,Romaine Schubert,Alison Seward,David G. Brooks,Amy Goldstein,James Caldwell,Eco Finsecke,Bernard L. Maria,Kenton R. Holden,Robert P. Cruse,Kathryn J. Swoboda,Dave Viskochil,Bruno Dallapiccola,Bruno Dallapiccola,Joseph G. Gleeson,Enza Maria Valente,Enza Maria Valente +131 more
TL;DR: No pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello‐renal subgroup, while they overall represent a rare cause of JSRDs.
Journal ArticleDOI
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Tina Young Poussaint,Jeremy W. Fox,William B. Dobyns,Rodney A. Radtke,Ingrid E. Scheffer,Samuel F. Berkovic,Patrick D. Barnes,Peter R. Huttenlocher,Christopher A. Walsh +8 more
TL;DR: Patients with confirmed FLN-1 gene mutations are usually female and have a distinctive MR pattern of PNH, which means other female patients with this same MR pattern probably harbor FLn-1 mutations and risk transmission to their progeny.
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Ion Channel Functions in Early Brain Development.
TL;DR: It is suggested that precise control of ionic flux (calcium, sodium, and potassium) contributes to in utero developmental processes such as neural proliferation, migration, and differentiation.