Keri Ramsey - Center for Rare Childhood Disorders, Translational Genomics Research Institute

基本信息

浏览量：73

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 16 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

Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene

Wayne M. Jepsen, Andrew Fazenbaker,Keri Ramsey, Anna Bonfitto,Marcus Naymik, Bryce Turner, Jennifer Sloan,Nishant Tiwari, Saunder M. Bernes, Derek E. Neilson, Meredith Sanchez-Castillo, Matt J. Huentelman,

International Journal of Molecular Sciencesno. 22 (2024): 11922

引用0浏览0引用

Recurrent P.h119y Variant in MAP2K1 Expands the Phenotypic Spectrum of MAP2K1-related RASopathy

Dorothy K. Grange,Daniel J. Wegner,Jennifer A. Wambach,Kathleen A. Sisco,Stephen I. Stone,Jonathan H. Sheehan,Keri M. Ramsey,Vinodh Narayanan,Katherine A. Rauen, F. Sessions Cole

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

引用0浏览0WOS引用

Inherited CSNK2A1 Variants in Families with Okur‐Chung Neurodevelopmental Syndrome

Newell Belnap, Aiai Price‐Smith,Keri Ramsey, Kamawela Leka, Aby Abraham, Ellin Lieberman,Katie Hassett, Sai Srihaas Potu,Natasha L. Rudy,Kirstin Smith,Fady M. Mikhail, Kristin G. Monaghan,

Clinical geneticsno. 5 (2023): 607-609

引用0浏览0引用

Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology

T. Abruzzo,R. van den Berg,S. Vadivelu,S. W. Hetts, M. Dishop,P. Cornejo,V. Narayanan,K. E. Ramsey, C. Coopwood, E. G. Medici-van den Herik,S. D. Roosendaal,M. Lawton,

American Journal of Neuroradiology（2022）

引用1浏览0WOS引用

Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency

Ash Zawerton,Cyril Mignot,Ashley Sigafoos,Patrick R. Blackburn,Abdul Haseeb,Kirsty McWalter,Shoji Ichikawa,Caroline Nava,Boris Keren,Perrine Charles,Isabelle Marey,Anne-Claude Tabet,

Genetics in medicine（2020）

引用22浏览0WOS引用

Erratum : A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (The American Journal of Human Genetics (2018) 102(5) (995–1007), (S0002929718300946) (10.1016/j.ajhg.2018.03.005))

Heather E. Olson,Nolwenn Jean-Marçais,Edward Yang,Delphine Heron,Katrina Tatton-Brown,Paul A. van der Zwaag,Emilia K. Bijlsma,Bryan L. Krock,E. Backer,Erik Jan Kamsteeg,Margje Sinnema,Margot R.F. Reijnders,

American Journal of Human Genetics（2018）

引用23浏览0引用

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Nolwenn Jean‐Marçais,Heather E. Olson,Edward Yang,Delphine Héron,Katrina Tatton‐Brown,Paul A. van der Zwaag,Emilia K. Bijlsma,Bryan L. Krock,E. De Backer,Erik‐Jan Kamsteeg,Margje Sinnema,Margot R.F. Reijnders,

American journal of human genetics（2018）

引用53浏览0引用

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian I Rice,Naoki Kitabayashi,Magalie Barth,Tracy A Briggs, Annabel C E Burton, Maria Luisa Carpanelli,Alfredo M Cerisola,Cindy Colson,Russell C Dale,Federica Rachele Danti,Niklas Darin,Begoña De Azua,

NEUROPEDIATRICS（2017）

引用58浏览0WOS引用

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and Mrna Sequencing

Szabolcs Szelinger,Ivana Malenica,Jason J. Corneveaux,Ashley L. Siniard,Ahmet A. Kurdoglu,Keri M. Ramsey,Isabelle Schrauwen,Jeffrey M. Trent,Vinodh Narayanan,Matthew J. Huentelman,David W. Craig

PLOS ONEno. 12 (2014)

引用16浏览0WOS引用

Characterization of de novo, interstitial, heterozygous deletion on Xp22.31

Szabolcs Szelinger,Ivana Malenica,J. Corneveaux Jason,L. Siniard Ashley,A. Kurdoglu Ahmet,M. Ramsey Keri,Isabelle Schrauwen,M. Trent Jeffrey,Vinodh Narayanan,J. Huentelman Matthew, Williams David

PLOS ONE（2014）

引用0浏览0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