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1.
Brugger, M.* et al.: Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. Am. J. Hum. Genet. 111, 594-613 (2024)
2.
Kasela, S.* et al.: Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects. Am. J. Hum. Genet. 111, 133-149 (2024)
3.
Paul, M.S.* et al.: A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am. J. Hum. Genet. 111, 96-118 (2024)
4.
Broadaway, K.A.* et al.: Loci for insulin processing and secretion provide insight into type 2 diabetes risk. Am. J. Hum. Genet. 110, 284-299 (2023)
5.
Calame, D.G.* et al.: Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 110, 1394-1413 (2023)
6.
De Santana Villasboas Arruda, A.L. et al.: Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis. Am. J. Hum. Genet. 110, 1304-1318 (2023)
7.
Guo, L.* et al.: Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. Am. J. Hum. Genet. 110, 1068-1085 (2023)
8.
Lee, O.W.* et al.: Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding. Am. J. Hum. Genet. 110, 427-441 (2023)
9.
McCaw, Z.R.* et al.: An allelic-series rare-variant association test for candidate-gene discovery. Am. J. Hum. Genet. 110, 1330-1342 (2023)
10.
Morra, A.* et al.: The impact of coding germline variants on contralateral breast cancer risk and survival. Am. J. Hum. Genet. 110, 475-486 (2023)
11.
Muffels, I.J.J.* et al.: Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration. Am. J. Hum. Genet. 110, 146-160 (2023)
12.
Rots, D.* et al.: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am. J. Hum. Genet. 110, 963-978 (2023)
13.
Scheller, I.F. ; Lutz, K.* ; Mertes, C.* ; Yépez, V.A.* & Gagneur, J.: Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index. Am. J. Hum. Genet. 110, 2056-2067 (2023)
14.
Schönauer, R.* et al.: Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. Am. J. Hum. Genet. 110, 998-1007 (2023)
15.
Smallwood, K.* et al.: POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. Am. J. Hum. Genet. 110, 809-825 (2023)
16.
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)
17.
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)
18.
Kreitmaier, P. et al.: An epigenome-wide view of osteoarthritis in primary tissues. Am. J. Hum. Genet. 109, 1255-1271 (2022)
19.
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)
20.
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)