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Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.
Sheppard SE, Smith A, Grand K, Pogoriler J, Rubin AI, Schindewolf E, Fitzgerald MP, Moldenhauer J, Laje P, Peranteau W, Bhoj E, McMahon P, Castelo-Soccio L. Sheppard SE, et al. Among authors: schindewolf e. Am J Med Genet A. 2020 Apr;182(4):746-754. doi: 10.1002/ajmg.a.61490. Epub 2020 Jan 21. Am J Med Genet A. 2020. PMID: 31961058 Free PMC article.
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. Campbell IM, et al. Among authors: schindewolf em. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637. Am J Med Genet A. 2018. PMID: 30380191 Free PMC article.
Autism spectrum disorder and neurodevelopmental delays in children with giant omphalocele.
Danzer E, Hoffman C, Miller JS, D'Agostino JA, Schindewolf EM, Gerdes M, Bernbaum J, Adams SE, Rintoul NE, Herkert LM, Taylor L, Schreiber J, Peranteau WH, Flake AW, Adzick NS, Hedrick HL. Danzer E, et al. Among authors: schindewolf em. J Pediatr Surg. 2019 Sep;54(9):1771-1777. doi: 10.1016/j.jpedsurg.2019.05.017. Epub 2019 May 28. J Pediatr Surg. 2019. PMID: 31196668
Genetic counseling for fetal gastrointestinal anomalies.
Schindewolf E, Moldenhauer JS. Schindewolf E, et al. Curr Opin Obstet Gynecol. 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. Curr Opin Obstet Gynecol. 2020. PMID: 32039977 Review.
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
Pritchard AB, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE. Pritchard AB, et al. Among authors: schindewolf e. Am J Med Genet A. 2020 May;182(5):1104-1116. doi: 10.1002/ajmg.a.61531. Epub 2020 Mar 5. Am J Med Genet A. 2020. PMID: 32133772 Free PMC article.
26 results