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1.
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)
2.
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)
3.
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)
4.
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)
5.
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)
6.
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)
7.
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)
8.
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)
9.
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)
10.
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)
11.
Schneider, R.* et al.: DAAM2 variants cause nephrotic syndrome via actin dysregulation. Am. J. Hum. Genet. 107, 1113-1128 (2020)
12.
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)
13.
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)
14.
Cousin, M.A.* et al.: RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities. Am. J. Hum. Genet. 105, 108-121 (2019)
15.
Diets, I.J.* et al.: De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am. J. Hum. Genet. 104, 758-766 (2019)
16.
Paine, I.* et al.: Paralog studies augment gene discovery: DDX and DHX genes. Am. J. Hum. Genet. 105, 302-316 (2019)
17.
Reynhout, S.* et al.: De novo mutations affecting the catalytic Cα subunit of PP2A (PPP2CA) cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders. Am. J. Hum. Genet. 104, 139-156 (2019)
18.
Spracklen, C.N.* et al.: Exome-derived adiponectin-associated variants implicate obesity and lipid biology. Am. J. Hum. Genet. 105, 15-28 (2019)
19.
Alston, C.L.* et al.: Biallelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am. J. Hum. Genet. 103, 592-601 (2018)
20.
Brechtmann, F.* et al.: OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data. Am. J. Hum. Genet. 103, 907-917 (2018)