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American Journal of Medical Genetics. Part A|June 27, 2024
Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblingsShanice Beerepoot, Jonathan I M L Verbeke, Maud Plantinga, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 8, 2019
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 VariantsRebecca Hudson, Chirag Patel, Carmel M Hawley, et al.Neuropediatrics|January 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 VariantsMenno D Stellingwerff, Corinne Nulton, Guy Helman, et al.Development (Cambridge, England)|August 26, 2020
Localised Collagen2a1 secretion supports lymphatic endothelial cell migration in the zebrafish embryoSmrita Chaudhury, Kazuhide S Okuda, Katarzyna Koltowska, et al.Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.European Journal of Medical Genetics|June 14, 2021
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorderGuy Helman, Lauren E Taylor, Marzena Walkiewicz, et al.NPJ Genomic Medicine|July 7, 2023
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKDYvonne Hort, Patricia Sullivan, Laura Wedd, et al.Stem Cell Research|September 7, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutationsKaiyuan Wu, Asako Takanohashi, Sarah Woidill, et al.Neurology|January 13, 2019
Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndromeGuy Helman, Suvasini Sharma, Joanna Crawford, et al.Journal of Child Neurology|June 9, 2018
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and ArthrogryposisAlexander Conant, Julian Curiel, Amy Pizzino, et al.Pageof 12