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Nature|July 14, 2016
Glial-cell-derived neuroregulators control type 3 innate lymphoid cells and gut defenceSales Ibiza, Bethania García-Cassani, Hélder Ribeiro, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 6, 2009
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type CNicole M Yanjanin, Jorge I Vélez, Andrea Gropman, et al.
American Journal of Human Genetics|June 16, 2023
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1BStacie K Loftus, Meredith F Gillis, Linnea Lundh, et al.
Nucleic Acids Research|April 22, 2017
BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiationHimangi G Marathe, Dawn E Watkins-Chow, Matthias Weider, et al.
Human Molecular Genetics|May 14, 2013
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1Rao Fu, Christopher A Wassif, Nicole M Yanjanin, et al.
Life Science Alliance|March 30, 2026
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 miceAvani V Mylvara, Alana L Gibson, Tansy Gu, et al.
Plos One|March 26, 2013
Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patientsMarta Rusmini, Paola Griseri, Francesca Lantieri, et al.
Plos One|December 24, 2010
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivoAnthony Antonellis, Megan Y Dennis, Grzegorz Burzynski, et al.
Nature Medicine|March 22, 2016
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypesKevin R Francis, Amy N Ton, Yao Xin, et al.
Human Molecular Genetics|May 24, 2012
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1Celine V M Cluzeau, Dawn E Watkins-Chow, Rao Fu, et al.
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