Kyle Retterer

Kyle Retterer

GeneDx - - / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4464297
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person_outline Kyle Retterer's MOST POPULAR ARTICLES
1-) Clinical application of whole-exome sequencing across clinical indicationsK Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ...Genetics in Medicine 18 (7), 696-704, 20167872016
2-) Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory DiseaseDB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ...New England Journal of Medicine 383 (27), 2628-2638, 20203202020
3-) Evidence for 28 genetic disorders discovered by combining healthcare and research dataJ Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...Nature, 1-7, 20204212020
4-) High rate of recurrent de novo mutations in developmental and epileptic encephalopathiesFF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...The American Journal of Human Genetics 101 (5), 664-685, 20174322017
5-) Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signalingLS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...The American Journal of Human Genetics 97 (2), 343-352, 20152912015