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A locus for Fanconi anemia on 16q determined by homozygosity mapping.

Gschwend M, Levran O, Kruglyak L, et al. A locus for Fanconi anemia on 16q determined by homozygosity mapping. Am J Hum Genet. 1996;59(2):377-84.

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Nakayama T, Al-Maawali A, El-Quessny M, et al. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015;96(5):709-19. doi:10.1016/j.ajhg.2015.03.003

Chromosomes 6 and 13 harbor genes that regulate pubertal timing in mouse chromosome substitution strains.

Krewson TD, Supelak PJ, Hill AE, et al. Chromosomes 6 and 13 harbor genes that regulate pubertal timing in mouse chromosome substitution strains. Endocrinology. 2004;145(10):4447-51. doi:10.1210/en.2004-0543

Absolute quantification of somatic DNA alterations in human cancer.

Carter SL, Cibulskis K, Helman E, et al. Absolute quantification of somatic DNA alterations in human cancer. Nat Biotechnol. 2012;30(5):413-21. doi:10.1038/nbt.2203

zCall: a rare variant caller for array-based genotyping: genetics and population analysis.

Goldstein JI, Crenshaw A, Carey J, et al. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics. 2012;28(19):2543-5. doi:10.1093/bioinformatics/bts479

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

Lim ET, Raychaudhuri S, Sanders SJ, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013;77(2):235-42. doi:10.1016/j.neuron.2012.12.029

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.

Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat. 2013;34(9):1216-20. doi:10.1002/humu.22375

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Stitziel NO, Fouchier SW, Sjouke B, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33(12):2909-14. doi:10.1161/ATVBAHA.113.302426

Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis.

Rampal R, Al-Shahrour F, Abdel-Wahab O, et al. Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis. Blood. 2014;123(22):e123-33. doi:10.1182/blood-2014-02-554634

No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.

Ruderfer DM, Lim ET, Genovese G, et al. No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. Eur J Hum Genet. 2015;23(4):555-7. doi:10.1038/ejhg.2014.228