Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.

Zheng LJ, Lin L, Schoepf UJ, Varga-Szemes A, Savage RH, Zhang H, Wang YF, Zhang XY, Luo S, Liu Y, Yang GF, Lu GM, Zhang LJ. Different posterior hippocampus and default mode network modulation in young APOE e4 carriers: a functional connectome-informed phenotype longitudinal study. Mol Neurobiol. 2021 Jun; 58(6):2757-2769.

Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Ryan N, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Sampson JR, Evans DG, Seppälä TT, Møller P. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Genet Med. 2021 04; 23(4):705-712.

Gass JM, Head BB, Shields SM, Stevenson RE, Louie RJ. Hydrocephaly associated with compound heterozygous alterations in TRAPPC12. Birth Defects Res. 2020 08; 112(13):1028-1034.

Khan MAW, Stephens WZ, Mohammed AD, Round JL, Kubinak JL. Does MHC heterozygosity influence microbiota form and function? PLoS One. 2019; 14(5):e0215946.

Mandava M, Bergmann S, Lazarchick J. A Novel Case of Compound Heterozygous Type 3 Von Willebrand Disease. Ann Clin Lab Sci. 2019 May; 49(3):393-394.

Poltavski DM, Colombier P, Hu J, Duron A, Black BL, Makita T. Venous endothelin modulates responsiveness of cardiac sympathetic axons to arterial semaphorin. Elife. 2019 02 08; 8.

Roch AM, Schneider J, Carr RA, Lancaster WP, House MG, Zyromski NJ, Nakeeb A, Schmidt CM, Ceppa EP. Are BRCA1 and BRCA2 gene mutation patients underscreened for pancreatic adenocarcinoma? J Surg Oncol. 2019 May; 119(6):777-783.

Pandey JP, Kothera RT, Liu S, Costa AS, Mancuso R, Agostini S. Immunoglobulin Genes and Immunity to HSV1 in Alzheimer's Disease. J Alzheimers Dis. 2019; 70(3):917-924.

Phillips MA, Rutledge GA, Kezos JN, Greenspan ZS, Talbott A, Matty S, Arain H, Mueller LD, Rose MR, Shahrestani P. Effects of evolutionary history on genome wide and phenotypic convergence in Drosophila populations. BMC Genomics. 2018 Oct 11; 19(1):743.