Amelia Kirby - Department of Pediatrics, Wake Forest School of Medicine

基本信息

浏览量：5

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 14 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

Optimizing Clinical Outcomes: the Journey of Twins with CRIM-negative Infantile-Onset Pompe Disease on High-Dose Enzyme Replacement Therapy and Immunomodulation

Angie H. Fares,Ankit K. Desai,Laura E. Case, Cassie Sharon, Amy Klinepeter,Amelia Kirby, Matthew T. Lisi,Rebecca L. Koch,Priya S. Kishnani

MOLECULAR GENETICS AND METABOLISM REPORTS（2024）

引用0浏览0WOS引用

Pathological Variants in TOP3A Cause Distinct Disorders of Mitochondrial and Nuclear Genome Stability

EMBO Molecular Medicineno. 5 (2023)

引用9浏览0WOS引用

Heterozygous ANKRD17 Loss of Function Variants Cause a Syndrome with Intellectual Disability, Speech Delay and Dysmorphism

Maya Chopra,Meriel McEntagart,Jill Clayton-Smith,Konrad Platzer,Anju Shukla,Katta M. Girisha,Anupriya Kaur,Parneet Kaur,Rolph Pfundt,Hermine Veenstra-Knol,Grazia M. S. Mancini,Gerarda Cappuccio,Nicola Brunetti-Pierri,Fanny Kortuem,Maja Hempel,Jonas Denecke,Anna Lehman,Tjitske Kleefstra,Kyra E. Stuurman,Martina Wilke,Michelle L. Thompson,E. Martina Bebin,Emilia K. Bijlsma,Mariette J. Hoffer,Cacha Peeters-Scholte,Anne Slavotinek,William A. Weiss,Tiffany Yip,Ugur Hodoglugil,Amy Whittle,Janettedi Monda,Juanita Neira,Sandra Yang,Amelia Kirby,Hailey Pinz,Rosan Lechner,Frank Sleutels,Ingo Helbig,Sarah McKeown,Katherine Helbig,Rebecca Willaert,Jane Juusola, Jennifer Semotok,Medard Hadonou,John Short,Naomi Yachelevich, Sajel Lala,Alberto Fernandez-Jaen, Janvier Porta Pelayo,Chiara Kloeckner,Susanne B. Kamphausen,Rami Abou Jamra,Maria Arelin,A. Micheil Innes, Anni Niskakoski,Sam Amin,Maggie Williams,Julie Evans,Sarah Smithson,Damian Smedley, Annade Burca,Usha Kini, Martin B. Delatycki,Lyndon Gallacher,Alison Yeung,Lynn Pais, Michael Field,Ellenore Martin,Perrine Charles,Thomas Courtin,Boris Keren,Maria Iascone,Anna Cereda,Gemma Poke,Veronique Abadie,Christel Chalouhi,Padmini Parthasarathy,Benjamin J. Halliday,Stephen P. Robertson,Stanislas Lyonnet,Jeanne Amiel,Christopher T. Gordon

The American Journal of Human Genetics（2021）

引用16浏览0WOS引用

Familial Pediatric Clear Cell Meningioma with Germline SMARCE1 Mutation in the United States

Pournima Navalkele,Miguel Guzman,Amelia Kirby,Hailey Pinz,Joanna Kemp

Journal of Neuropathology &amp Experimental Neurologyno. 11 (2020): 1250-1252

引用6浏览0WOS引用

Phenotypic Spectrum and Transcriptomic Profile Associated with Germline Variants in TRAF7

Laura Castilla-Vallmanya,Kaja K. Selmer,Clémantine Dimartino,Raquel Rabionet,Bernardo Blanco-Sánchez,Sandra Yang,Margot R. F. Reijnders, Antonie J. van Essen,Myriam Oufadem,Magnus D. Vigeland,Barbro Stadheim,Gunnar Houge,Helen Cox,Helen Kingston,Jill Clayton-Smith,Jeffrey W. Innis,Maria Iascone,Anna Cereda,Sara Gabbiadini,Wendy K. Chung,Victoria Sanders,Joel Charrow,Emily Bryant,John Millichap,Antonio Vitobello,Christel Thauvin,Frederic Tran Mau-Them,Laurence Faivre,Gaetan Lesca,Audrey Labalme,Christelle Rougeot,Nicolas Chatron,Damien Sanlaville,Katherine M. Christensen,Amelia Kirby,Raymond Lewandowski, Rachel Gannaway, Maha Aly,Anna Lehman,Lorne Clarke,Luitgard Graul-Neumann,Christiane Zweier,Davor Lessel,Bernarda Lozic,Ingvild Aukrust,Ryan Peretz,Robert Stratton,Thomas Smol,Anne Dieux-Coëslier,Joanna Meira,Elizabeth Wohler,Nara Sobreira,Erin M. Beaver,Jennifer Heeley,Lauren C. Briere,Frances A. High,David A. Sweetser,Melissa A. Walker,Catherine E. Keegan,Parul Jayakar,Marwan Shinawi,Wilhelmina S. Kerstjens-Frederikse,Dawn L. Earl,Victoria M. Siu,Emma Reesor,Tony Yao,Robert A. Hegele,Olena M. Vaske,Shannon Rego,Kevin A. Shapiro, Brian Wong,Michael J. Gambello,Marie McDonald,Danielle Karlowicz,Roberto Colombo,Alessandro Serretti,Lynn Pais,Anne O’Donnell-Luria, Alison Wray,Simon Sadedin,Belinda Chong,Tiong Y. Tan,John Christodoulou,Susan M. White,Anne Slavotinek,Deborah Barbouth,Dayna Morel Swols,Mélanie Parisot,Christine Bole-Feysot,Patrick Nitschké,Véronique Pingault,Arnold Munnich,Megan T. Cho,Valérie Cormier-Daire,Susanna Balcells,Stanislas Lyonnet,Daniel Grinberg,Jeanne Amiel,Roser Urreizti,Christopher T. Gordon

Genetics in Medicine（2020）

引用21浏览0WOS引用

An Unspoken Truth: to Operate or Not to Operate? Assessing NSQIP Surgical Outcomes in Trisomy 18 Patients

Adam Bajinting,Hector Osei,Salim Munoz-Abraham,Amelia Kirby,Jose Greenspon,Gustavo A. Villalona

Journal of the American College of Surgeons（2019）

引用0浏览0引用

Chromosome 1q23.3q31.1 Deletion Associated with Decreased Newborn Screening of T Cell Receptor Rearrangement Circles (Trecs)

Julia S. Lee,Bradley A. Becker,Amelia Kirby,Alan P. Knutsen

Annals of Allergy Asthma & Immunology（2018）

引用2浏览0WOS引用

Cover Image, Volume 176A, Number 4, April 2018

Yuri A. Zarate,Constance L. Smith‐Hicks,Carol Greene,Mary‐Alice Abbott,Victoria M. Siu,Amy R. U. L. Calhoun,Arti Pandya,Chumei Li,Elizabeth A. Sellars,Julie Kaylor,Katherine Bosanko,Louisa Kalsner,Alice Basinger, Anne M. Slavotinek,Hazel Perry,Margarita Saenz,Marta Szybowska,Louise C. Wilson,Ajith Kumar,Caroline Brain,Meena Balasubramanian,Holly Dubbs,Xilma R. Ortiz‐Gonzalez,Elaine Zackai,Quinn Stein,Cynthia M. Powell,Samantha Schrier Vergano,Allison Britt,Angela Sun,Wendy Smith,E. Martina Bebin,Jonathan Picker,Amelia Kirby,Hailey Pinz,Hannah Bombei,Sonal Mahida,Julie S. Cohen,Ali Fatemi,Hilary J. Vernon,Rebecca McClellan,Leah R. Fleming,Brittney Knyszek,Michelle Steinraths,Cruz Velasco Gonzalez,Anita E. Beck,Katie L. Golden‐Grant,Alena Egense,Aditi Parikh,Chantalle Raimondi,Brad Angle,William Allen,Suzanna Schott,Adi Algrabli,Nathaniel H. Robin,Joseph W. Ray,David B. Everman,Michael J. Gambello,Wendy K. Chung

American Journal of Medical Genetics Part A（2018）

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