Danique Beijer - Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami

基本信息

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职业迁徙

个人简介

I am a Post-Doctoral researcher with a passion for neurogenetic research. I have a particular interest in translational genetics, identifying novel causal genes in patients using NGS and explorative studies to investigate the underlying pathological mechanism.

研究兴趣

论文共 47 篇作者统计合作学者相似作者

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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Danique Beijer,Brent L. Fogel,Sergi Beltran,Matt C. Danzi,Andrea H. Németh,Stephan Züchner,Matthis Synofzik

CEREBELLUM（2024）

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The GENESIS Database and Tools: A Decade of Discovery in Mendelian Genomics

Matt C. Danzi,Eric Powell,Adriana P. Rebelo,Maike F. Dohrn,Danique Beijer,Sarah Fazal, Isaac R. L. Xu,Jessica Medina, Sitong Chen, Yeisha Arcia de Jesus, Jacquelyn Schatzman,Ray E. Hershberger,Mario Saporta, Jonathan Baets,Marni Falk,David N. Herrmann,Steven S. Scherer,Mary M. Reilly, Andrea Cortese, Wilson Marques, Mario R. Carnejo-Olivas,Oranee Sanmaneechai,Marina L. Kennerson,Albena Jordanova, Thiago Y. T. Silva, Jose Luiz Pedroso, Luca Schierbaum,Darius Ebrahimi-Fakhari, Stojan Peric, Yi-Chung Lee,Matthis Synofzik,Mustafa Tekin,Gianina Ravenscroft, Mike Shy,Nazli Basak,Rebecca Schule,Stephan Zuchner

EXPERIMENTAL NEUROLOGY（2024）

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Dominant NARS1 Mutations Causing Axonal Charcot-Marie-Tooth Disease Expand NARS1-associated Diseases

Danique Beijer,Sheila Marte, Jiaxin C. Li,Willem De Ridder, Jessie Z. Chen,Abigail L. D. Tadenev,Kathy E. Miers,Tine Deconinck,Richard Macdonell,Wilson Marques Jr,Peter De Jonghe, Samia L. Pratt,Rebecca Meyer-Schuman,Stephan Zuchner,Anthony Antonellis,Robert W. Burgess,Jonathan Baets

BRAIN COMMUNICATIONS（2024）

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Consensus Guidelines for Eligibility Assessment of Pathogenic Variants to Antisense Oligonucleotide Treatments

David Cheerie, Margaret Meserve,Danique Beijer,Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, Aubrie Soucy Verran, Emma Sherrill, Stefanie Leonard, Stephan J. Sanders,Emily Blake, Nour Elkhateeb, Aastha Gandhi, Nicole S.Y. Liang, Jack T. Morgan, Anna Verwillow,Jan Verheijen, Andrew Giles, Sean Williams, Maya Chopra, Laura Croft, Hormos Salimi Dafsari, Alice E. Davidson, Jennifer Friedman,Anne Gregor,Bushra Haque, Rosan Lechner, Kylie-Ann Montgomery,Mina Ryten, Emil Schober, Gabriele Siegel, Patricia Sullivan, Bianca Zardetto,Timothy W. Yu,Matthis Synofzik,Annemieke Aartsma-Rus,Gregory Costain,Marlen Lauffer, N=1 Collaborative

crossref（2024）

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A Recurrent Missense Variant in ITPR3 Causes Demyelinating Charcot-Marie-Tooth with Variable Severity