Susan Sklower Brooks

Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor

Mohammed Junaid, Dagmar Kowal, Madhabi Barua et al. · American Journal of Medical Genetics Part A · 2004 · 153 citations · Full text

Neurogenomics, Single Nucleotide Polymorphism, Brain Development +25

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Diane Beysen, Jeroen Raes, Bart P. Leroy et al. · The American Journal of Human Genetics · 2005 · 115 citations · Full text

Blepharophimosis Syndrome, Autoimmune Disease, Novel Disease-causing Mechanism +9

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

Susan Sklower Brooks, Alissa L. Wall, Christelle Golzio et al. · Genetics · 2014 · 111 citations · Full text

A <i>de novo</i> 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)

Maryann L. Huie, A. S. Chen, Susan Sklower Brooks et al. · Human Molecular Genetics · 1994 · 89 citations

Lysosomal ceroid depletion by drugs: Therapeutic implications for a hereditary neurodegenerative disease of childhood

Zhongjian Zhang, Jean DeB. Butler, Sondra W. Levin et al. · Nature Medicine · 2001 · 82 citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +10