Publications

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Author Title [ Year(Desc)]
Filters: Author is Wohler, Elizabeth  [Clear All Filters]
2019
Pant, D. C. et al. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest 129, 1240-1256 (2019).
2020
Martin, E. M. M. A. et al. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Hum Mol Genet 29, 3662-3678 (2020).
Dhaheri, N. Al et al. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Am J Med Genet A 182, 1664-1672 (2020).
Arif, B. et al. A novel homozygous KY variant causing a complex neurological disorder. Eur J Med Genet 63, 104031 (2020).
Castilla-Vallmanya, L. et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
Jelin, A. C. et al. The utility of exome sequencing for fetal pleural effusions. Prenat Diagn 40, 590-595 (2020).
2021
Meyer, A. N. et al. Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function. Am J Med Genet A 185, 798-805 (2021).