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American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.
Brain : a Journal of Neurology|March 12, 2014
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthoodJoanne Ng, Juan Zhen, Esther Meyer, et al.
American Journal of Human Genetics|January 13, 2005
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophyKazuhiko Nakabayashi, Daniela Amann, Yan Ren, et al.
American Journal of Human Genetics|January 10, 2015
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon proteaseKevin A Strauss, Robert N Jinks, Erik G Puffenberger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
Genomic diagnostics within a medically underserved population: efficacy and implicationsKevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.
American Journal of Medical Genetics. Part A|August 6, 2025
Exonic Variation and Its Clinical Impact in 7221 Old Order AmishBraxton D Mitchell, Ebuka Onyenobi, Joshua P Lewis, et al.
Molecular Cell|December 23, 2021
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brainCole J Ferguson, Olivia Urso, Tatyana Bodrug, et al.
Molecular Genetics and Metabolism|January 26, 2020
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomesKevin A Strauss, Vincent J Carson, Kyle Soltys, et al.
Human Molecular Genetics|October 11, 2018
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem diseaseKatie B Williams, Karlla W Brigatti, Erik G Puffenberger, et al.
American Journal of Human Genetics|December 7, 2015
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Kym M Boycott, Chandree L Beaulieu, Kristin D Kernohan, et al.
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