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Brenda J. Barry
Researcher at Boston Children's Hospital
Publications - 13
Citations - 783
Brenda J. Barry is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Microcephaly & Gene. The author has an hindex of 9, co-authored 13 publications receiving 682 citations. Previous affiliations of Brenda J. Barry include Howard Hughes Medical Institute & Beth Israel Deaconess Medical Center.
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Journal ArticleDOI
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Jun Shen,Edward C. Gilmore,Edward C. Gilmore,Christine A Marshall,Mary Haddadin,John J. Reynolds,Wafaa Eyaid,Adria Bodell,Brenda J. Barry,Danielle Gleason,Kathryn Allen,Vijay S. Ganesh,Bernard S. Chang,Arthur Grix,R. Sean Hill,Meral Topçu,Keith W. Caldecott,A. James Barkovich,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh +20 more
TL;DR: A previously unknown autosomal recessive disease characterized by microcephaly, early-onset, intractable seizures and developmental delay (denoted MCSZ) is described and multiple mutations in PNKP (polynucleotide kinase 3′-phosphatase) that result in severe neurological disease are identified.
Journal ArticleDOI
Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation
Yawei J. Yang,Andrew E. Baltus,Andrew E. Baltus,Rebecca S. Mathew,Rebecca S. Mathew,Elisabeth A. Murphy,Elisabeth A. Murphy,Elisabeth A. Murphy,Gilad D. Evrony,Dilenny M. Gonzalez,Dilenny M. Gonzalez,Estee P. Wang,Christine A. Marshall-Walker,Christine A. Marshall-Walker,Brenda J. Barry,Brenda J. Barry,Jernej Murn,Jernej Murn,Antonis Tatarakis,Antonis Tatarakis,Muktar A. Mahajan,Herbert H. Samuels,Yang Shi,Yang Shi,Jeffrey A. Golden,Muhammad Mahajnah,Ruthie Shenhav,Christopher A. Walsh +27 more
TL;DR: This work identifies and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death and provides the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation.
in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
M. Chiara Manzini,Dimira E. Tambunan,R. Sean Hill,Timothy W. Yu,Thomas M. Maynard,Erin L. Heinzen,Kevin V. Shianna,Christine Stevens,Jennifer N. Partlow,Brenda J. Barry,Jacqueline Rodriguez,Vandana Gupta,Abdel-Karim Al-Qudah,Wafaa Eyaid,Jan M. Friedman,Mustafa A. Salih,Robin D. Clark,Isabella Moroni,Marina Mora,Alan H. Beggs,Stacey Gabriel,Christopher A. Walsh +21 more
TL;DR: In this paper, the authors combined whole-exome sequencing (WES) with homozygosity analysis of consanguineous pedigrees to identify genetic mutations responsible for Walker-Warburg syndrome (WWS), a genetically heterogeneous autosomal-recessive disorder that severely affects the development of the brain, eyes, and muscle.
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
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
William B. Dobyns,William B. Dobyns,Kimberly A. Aldinger,Gisele E. Ishak,Gisele E. Ishak,Ghayda M. Mirzaa,Ghayda M. Mirzaa,Andrew E. Timms,Megan E. Grout,Marjolein H G Dremmen,Marjolein H G Dremmen,Rachel Schot,Laura Vandervore,Marjon van Slegtenhorst,Martina Wilke,Esmee Kasteleijn,Arthur Lee,Arthur Lee,Brenda J. Barry,Katherine R. Chao,Krzysztof Szczałuba,Joyce Kobori,Andrea Hanson-Kahn,Jonathan A. Bernstein,Lucinda Carr,Felice D'Arco,Kaori Miyana,Tetsuya Okazaki,Yoshiaki Saito,Masayuki Sasaki,Soma Das,Marsha M. Wheeler,Michael J. Bamshad,Deborah A. Nickerson,Elizabeth C. Engle,Frans W. Verheijen,Dan Doherty,Dan Doherty,Grazia M.S. Mancini +38 more
TL;DR: Variants of the microtubule-binding GAR domain of MACF1 are reported as the cause of a distinctive and most likely pathognomonic brain malformation.