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Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Am J Med Genet A. 2020 Jun;182(6):1426-1437. doi: 10.1002/ajmg.a.61580. Epub 2020 Apr 10.
Am J Med Genet A. 2020.
PMID: 32275123
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.
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.
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Hypospadias risk is increased with maternal residential exposure to hormonally active hazardous air pollutants.
Sheth KR, Kovar E, White JT, Chambers TM, Peckham-Gregory EC, O'Neill M, Langlois PH, Seth A, Scheurer ME, Lupo PJ, Jorgez CJ.
Sheth KR, et al.
Birth Defects Res. 2019 Apr 15;111(7):345-352. doi: 10.1002/bdr2.1461. Epub 2019 Jan 29.
Birth Defects Res. 2019.
PMID: 30694020
Free PMC article.
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The Epidemiology of Biliary Atresia: Exploring the Role of Developmental Factors on Birth Prevalence.
Cavallo L, Kovar EM, Aqul A, McLoughlin L, Mittal NK, Rodriguez-Baez N, Shneider BL, Zwiener RJ, Chambers TM, Langlois PH, Canfield MA, Agopian AJ, Lupo PJ, Harpavat S.
Cavallo L, et al. Among authors: kovar em.
J Pediatr. 2022 Jul;246:89-94.e2. doi: 10.1016/j.jpeds.2022.03.038. Epub 2022 Mar 30.
J Pediatr. 2022.
PMID: 35364097
Free PMC article.
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Hypospadias Risk from Maternal Residential Exposure to Heavy Metal Hazardous Air Pollutants.
White JT, Kovar E, Chambers TM, Sheth KR, Peckham-Gregory EC, O'Neill M, Langlois PH, Jorgez CJ, Lupo PJ, Seth A.
White JT, et al.
Int J Environ Res Public Health. 2019 Mar 15;16(6):930. doi: 10.3390/ijerph16060930.
Int J Environ Res Public Health. 2019.
PMID: 30875870
Free PMC article.
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