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21.
Smallwood, K.* et al.: POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Am. J. Hum. Genet. 110, 809-825 (2023)
22.
Hindy, G.* et al.: Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am. J. Hum. Genet. 109, 81-96 (2022)
23.
Kaiyrzhanov, R.* et al.: Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. Am. J. Hum. Genet. 109, 1692-1712 (2022)
24.
Kreitmaier, P. et al.: An epigenome-wide view of osteoarthritis in primary tissues. Am. J. Hum. Genet. 109, 1255-1271 (2022)
25.
Marafi, D.* et al.: A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am. J. Hum. Genet. 109, 1713-1723 (2022)
26.
Ramdas, S.* et al.: A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am. J. Hum. Genet. 109, 1366-1387 (2022)
27.
Tessadori, F.* et al.: Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am. J. Hum. Genet. 109, 750-758 (2022)
28.
Baxter, J.S.* et al.: Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element. Am. J. Hum. Genet. 108, 1190-1203 (2021)
29.
den Hoed, J.* et al.: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am. J. Hum. Genet. 108, 346-356 (2021)
30.
Galatà, G.* et al.: Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. Am. J. Hum. Genet. 108, 284-294 (2021)
31.
Li, C.* et al.: UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am. J. Hum. Genet. 108, 134-147 (2021)
32.
Richard, E.M.* et al.: Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am. J. Hum. Genet. 108, 2006-2016 (2021)
33.
Usmani, M.A.* et al.: De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am. J. Hum. Genet. 108, 1330-1341 (2021)
34.
Alston, C.L.* et al.: Pathogenic bi-allelic mutations in NDUFAF8 cause leigh syndrome with an isolated complex I deficiency. Am. J. Hum. Genet. 106, 92-101 (2020)
35.
Gusic, M. et al.: Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and Alopecia Totalis. Am. J. Hum. Genet. 106, 102-111 (2020)
36.
Husain, R.A.* et al.: Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Am. J. Hum. Genet. 107, 364-373 (2020)
37.
Li, C.* et al.: Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length. Am. J. Hum. Genet. 106, 389-404 (2020)
38.
Schneider, R.* et al.: DAAM2 variants cause nephrotic syndrome via actin dysregulation. Am. J. Hum. Genet. 107, 1113-1128 (2020)
39.
Wagner, M. et al.: Bi-allelic variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, infantile spasms, and feeding abnormalities. Am. J. Hum. Genet. 106, 246-255 (2020)
40.
Wortmann, S.B. et al.: Bi-allelic variants in TKFC encoding triokinase/FMN cyclase are associated with cataracts and multisystem disease. Am. J. Hum. Genet. 106, 256-263 (2020)
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