Alison M. Muir - Concepedia

Author

Alison M. Muir

University of Washington ORCID

Also Known As

A Muir, A. M. Muir, A.M. Muir, Alison M Muir, Alison M. Muir, Alison Muir, Benjamin Büttner, Heather Mefford

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

University of Washington Children's Hospital of Philadelphia Boston Children's Hospital Inserm Murdoch Children's Research Institute

About

Alison M. Muir is an author at University of Washington specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	12	477
2	Natural Sciences	2	2	47
3	Engineering	1	1	16
4	Public Health	1	1	10
5	Social Sciences	1	1	99

Alison M. Muir

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Journal of Medical Genetics	2017	249
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Nature Communications	2019	236
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Brain NeurogenomicsBrain DevelopmentGeneticsPathologyMolecular Genetics	2017	99
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Genetics in Medicine	2018	69
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderPsychiatric GeneticsZmiz1 Variants	2019	66
Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice Alison M. Muir, Yinshi Ren, Daniel Butz, Human Molecular Genetics	2014	65
BMP1-like proteinases are essential to the structure and wound healing of skin Alison M. Muir, Dawiyat Massoudi, Ngon E. Nguyen, Matrix Biology Bmp1-like ProteinasesSkin DevelopmentProtein FunctionMedicineCutaneous Biology	2016	60
Genetic heterogeneity in infantile spasms Alison M. Muir, Candace T. Myers, Nancy Nguyen, Epilepsy Research Developmental AnomalyGenetic DisorderGeneticsGenetic HeterogeneityNeuroscience	2019	60
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Genetics in Medicine Nexmif EncephalopathyMendelian DisorderFragile X SpectrumPathologyFemale Phenotypic Patterns	2020	54
Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Brain	2022	41

Page 1