Brenda J. Barry - Division of Genetics and Manton Center for Orphan Disease Research, Boston Children's Hospital

基本信息

浏览量：36

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 54 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Presence of Copy Number Variants Associated with Esotropia in Patients with Exotropia

Mayra Martinez Sanchez,Wai-Man Chan,Sarah E. Mackinnon,Brenda Barry,David G. Hunter,Elizabeth C. Engle,Mary C. Whitman

JAMA OPHTHALMOLOGYno. 3 (2024): 247-248

引用0浏览0WOS引用

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays

Julie A Jurgens, Paola M Matos Ruiz, Jessica King, Emma E Foster, Lindsay Berube,Wai-Man Chan,Brenda J Barry,Raehoon Jeong, Elisabeth Rothman,Mary C Whitman,Sarah MacKinnon, Cristina Rivera-Quiles,Brandon M Pratt, Teresa Easterbrooks, Fiona M Mensching,Silvio Alessandro Di Gioia,Lynn Pais,Eleina M England,Teresa de Berardinis,Adriano Magli,Feray Koc,Kazuhide Asakawa,Koichi Kawakami,Anne O'Donnell-Luria,David G Hunter,Caroline D Robson, Martha L Bulyk,Elizabeth C Engle

bioRxiv the preprint server for biology (2024)

引用0浏览0WOS引用

A Recurrent Missense Variant in the E3 Ubiquitin Ligase Substrate Recognition Subunit FEM1B Causes a Rare Syndromic Neurodevelopmental Disorder

Francois Lecoquierre,A. Mattijs Punt,Frederic Ebstein,Ilse Wallaard, Rob Verhagen,Maja Studencka-Turski,Yannis Duffourd, Se bastien Moutton, Frededic Tran Mau-Them,Christophe Philippe,John Dean, Stephen Tennant,Alice S. Brooks,Marjon A. van Slegtenhorst,Julie A. Jurgens,Brenda J. Barry,Wai-Man Chan,Eleina M. England,Mayra Martinez Ojeda,Elizabeth C. Engle,Caroline D. Robson,Michelle Morrow,A. Micheil Innes,Ryan Lamont,Matthea Sanderson, Elke Krger,Christel Thauvin,Ben Distel,Laurence Faivre,Ype Elgersma,Antonio Vitobello

GENETICS IN MEDICINEno. 6 (2024)

引用0浏览0WOS引用

Expanding the Genetics and Phenotypes of Ocular Congenital Cranial Dysinnervation Disorders

Julie A. Jurgens,Brenda J. Barry,Wai-Man Chan,Sarah MacKinnon,Mary C. Whitman, Paola M. Matos Ruiz,Brandon M. Pratt,Eleina M. England,Lynn Pais,Gabrielle Lemire,Emily Groopman, Carmen Glaze, Kathryn A. Russell,Moriel Singer-Berk,Silvio Alessandro Di Gioia,Arthur S. Lee,Caroline Andrews,Sherin Shaaban, Megan M. Wirth, Sarah Bekele

Genetics in Medicinepp.101216, (2024)

引用0浏览0WOS引用

TUBB3 and KIF21A in neurodevelopment and disease

Dharmendra Puri,Brenda J Barry,Elizabeth C Engle

Frontiers in neuroscience (2023): 1226181

引用0浏览0WOS引用

Noncoding Variants Alter GATA2 Expression in Rhombomere 4 Motor Neurons and Cause Dominant Hereditary Congenital Facial Paresis

Alan P. Tenney,Silvio Alessandro Di Gioia,Bryn D. Webb,Wai-Man Chan,Elke de Boer,Sarah J. Garnai,Brenda J. Barry, Tammy Ray,Michael Kosicki,Caroline D. Robson,Zhongyang Zhang,Thomas E. Collins,Alon Gelber,Brandon M. Pratt,Yuko Fujiwara,Arushi Varshney,Monkol Lek,Peter E. Warburton,Carol Van Ryzin,Tanya J. Lehky,Christopher Zalewski,Kelly A. King,Carmen C. Brewer,Audrey Thurm,Joseph Snow,Flavia M. Facio, Narisu,Lori L. Bonnycastle,Amy Swift,Peter S. Chines,Jessica L. Bell,Suresh Mohan,Mary C. Whitman,Sandra E. Staffieri,James E. Elder,Joseph L. Demer,Alcy Torres,Elza Rachid,Christiane Al-Haddad,Rose-Mary Boustany,David A. Mackey,Angela F. Brady,María Fenollar-Cortés,Melanie Fradin,Tjitske Kleefstra,George W. Padberg,Salmo Raskin,Mario Teruo Sato,Stuart H. Orkin,Stephen C. J. Parker,Tessa A. Hadlock,Lisenka E. L. M. Vissers,Hans van Bokhoven,Ethylin Wang Jabs,Francis S. Collins,Len A. Pennacchio,Irini Manoli,Elizabeth C. Engle

NATURE GENETICSno. 7 (2023): 1149-+

引用2浏览0WOSNATURE引用

A Cell Type-Aware Framework for Nominating Non-Coding Variants in Mendelian Regulatory Disorders

Arthur S Lee, Lauren J Ayers,Michael Kosicki,Wai-Man Chan, Lydia N Fozo,Brandon M Pratt,Thomas E Collins,Boxun Zhao,Matthew F Rose,Alba Sanchis-Juan,Jack M Fu,Isaac Wong,Xuefang Zhao,Alan P Tenney, Cassia Lee,Kristen M Laricchia,Brenda J Barry,Victoria R Bradford,Monkol Lek,Daniel G MacArthur,Eunjung Alice Lee, Michael E Talkowski,Harrison Brand,Len A Pennacchio,Elizabeth C Engle

medRxiv the preprint server for health sciences (2023)

引用0浏览0WOSNATURE引用

Novel Variants in TUBA1A Cause Congenital Fibrosis of the Extraocular Muscles with or Without Malformations of Cortical Brain Development

Julie A. Jurgens,Brenda J. Barry,Gabrielle Lemire,Wai-Man Chan,Mary C. Whitman,Sherin Shaaban,Caroline D. Robson,Sarah MacKinnon,Eleina M. England,Hugh J. McMillan, Christopher Kelly,Brandon M. Pratt,Anne O'Donnell-Luria,Daniel G. MacArthur,Kym M. Boycott,David G. Hunter,Elizabeth C. Engle

EUROPEAN JOURNAL OF HUMAN GENETICSno. 5 (2021): 816-826

引用11浏览0WOS引用

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Mervyn G. Thomas,Gail D. E. Maconachie,Helen J. Kuht,Wai-Man Chan,Viral Sheth,Michael Hisaund,Rebecca J. McLean,Brenda Barry,Bashir Al-Diri,Frank A. Proudlock,Zhanhan Tu,Elizabeth C. Engle,Irene Gottlob

International Journal of Molecular Sciences（2021）

引用3浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn