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Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. McCarthy J, et al. Among authors: lupo pj. Am J Med Genet A. 2018 Dec;176(12):2564-2574. doi: 10.1002/ajmg.a.40650. Epub 2018 Oct 10. Am J Med Genet A. 2018. PMID: 30302899 Free PMC article.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Fountain MD, et al. Among authors: lupo pj. Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25. Genet Med. 2019. PMID: 30679821 Free PMC article.
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.
Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, Agopian AJ. Benjamin RH, et al. Among authors: lupo pj. Birth Defects Res. 2019 Nov 1;111(18):1356-1364. doi: 10.1002/bdr2.1549. Epub 2019 Jul 16. Birth Defects Res. 2019. PMID: 31313535 Free PMC article.
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
Oluwafemi OO, Benjamin RH, Navarro Sanchez ML, Scheuerle AE, Schaaf CP, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scott DA, Northrup H, Ray JW, McLean SD, Ludorf KL, Chen H, Lupo PJ, Agopian AJ. Oluwafemi OO, et al. Among authors: lupo pj. Am J Med Genet A. 2020 Nov;182(11):2581-2593. doi: 10.1002/ajmg.a.61830. Epub 2020 Sep 4. Am J Med Genet A. 2020. PMID: 32885608 Free PMC article.
Patterns of co-occurring birth defects among infants with hypospadias.
Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Ludorf KL, et al. Among authors: lupo pj. J Pediatr Urol. 2021 Feb;17(1):64.e1-64.e8. doi: 10.1016/j.jpurol.2020.11.015. Epub 2020 Nov 12. J Pediatr Urol. 2021. PMID: 33281045 Free PMC article.
301 results