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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: moldenhauer js. 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.
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.
Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS. Schindewolf E, et al. Among authors: moldenhauer js. Am J Med Genet A. 2018 Aug;176(8):1735-1741. doi: 10.1002/ajmg.a.38665. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055034 Free PMC article.
Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects.
Russell MW, Moldenhauer JS, Rychik J, Burnham NB, Zullo E, Parry SI, Simmons RA, Elovitz MA, Nicolson SC, Linn RL, Johnson MP, Yu S, Sampson MG, Hakonarson H, Gaynor JW. Russell MW, et al. Among authors: moldenhauer js. J Pediatr. 2019 Oct;213:103-109. doi: 10.1016/j.jpeds.2019.05.013. Epub 2019 Jun 18. J Pediatr. 2019. PMID: 31227283 Free PMC article.
Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.
Russell MW, Moldenhauer JS, Rychik J, Burnham NB, Zullo E, Parry SI, Simmons RA, Elovitz MA, Nicolson SC, Linn RL, Johnson MP, Yu S, Sampson MG, Hakonarson H, Gaynor JW. Russell MW, et al. Among authors: moldenhauer js. Data Brief. 2019 Jul 26;25:104311. doi: 10.1016/j.dib.2019.104311. eCollection 2019 Aug. Data Brief. 2019. PMID: 31453292 Free PMC article.
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. 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.
Genetic counseling for fetal gastrointestinal anomalies.
Schindewolf E, Moldenhauer JS. Schindewolf E, et al. Among authors: moldenhauer js. Curr Opin Obstet Gynecol. 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. Curr Opin Obstet Gynecol. 2020. PMID: 32039977 Review.
131 results