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Journal of Endodontics|November 17, 2016
Essential Roles of Bone Morphogenetic Protein-1 and Mammalian Tolloid-like 1 in Postnatal Root Dentin FormationJun Wang, Alison M Muir, Yinshi Ren, et al.
HGG Advances|December 19, 2024
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizuresAlison M Muir, Adi Reich, Fanggeng Zou, et al.
Cell Reports|July 27, 2017
WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial FusionGuorui Huang, Dawiyat Massoudi, Alison M Muir, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|July 2, 2016
BMP1-like proteinases are essential to the structure and wound healing of skinAlison M Muir, Dawiyat Massoudi, Ngon Nguyen, et al.
Human Molecular Genetics|January 15, 2014
Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in miceAlison M Muir, Yinshi Ren, Delana Hopkins Butz, et al.
HGG Advances|January 20, 2022
A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delayDianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.
Epilepsy Research|August 9, 2019
Genetic heterogeneity in infantile spasmsAlison M Muir, Candace T Myers, Nancy T Nguyen, et al.
American Journal of Human Genetics|April 11, 2020
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac AbnormalitiesAlison M Muir, Jennifer L Cohen, Sarah E Sheppard, et al.
Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
Epilepsia|February 13, 2023
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality riskKaren L Oliver, Marina Trivisano, Simone A Mandelstam, et al.
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