Below are the most recent publications written about "Developmental Disabilities" by people in Profiles.
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Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder. Hum Genet. 2024 Mar; 143(3):437-453.
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Palatucci JS, Chakravarty S, Kratchman AL, Harris J, Pizzi LT, Coffield CN, Ibitamuno G, Spitalnik DM. Commentary: Determining Economic Factors That Matter to People With Intellectual and Developmental Disabilities and Their Caregivers: A Process Framework. Med Care. 2023 12 01; 61(12 Suppl 2):S104-S108.
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Butler SC, Rofeberg V, Wypij D, Ferreira R, Singer J, Stopp C, Wood L, Ware J, Newburger JW, Sadhwani A. Inpatient Screening for Early Identification of Developmental Risk in Infants with Congenital Heart Defects. J Pediatr. 2023 12; 263:113687.
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Rubenstein E, Ehrenthal DB, Nobles J, Mallinson DC, Bishop L, Jenkins MC, Kuo HH, Durkin MS. Fertility rates in women with intellectual and developmental disabilities in Wisconsin Medicaid. Disabil Health J. 2022 07; 15(3):101321.
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Butler SC, Sadhwani A, Rofeberg V, Cassidy AR, Singer J, Calderon J, Wypij D, Newburger JW, Rollins CK. Neurological features in infants with congenital heart disease. Dev Med Child Neurol. 2022 06; 64(6):762-770.
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Sewell R, Buchanan CL, Davis S, Christakis DA, Dempsey A, Furniss A, Kazak AE, Kerlek AJ, Magnusen B, Pajor NM, Pyle L, Pyle LC, Razzaghi H, Schwartz BI, Vogiatzi MG, Nokoff NJ. Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study. J Pediatr. 2021 12; 239:175-181.e2.
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Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. Hum Mol Genet. 2021 08 12; 30(17):1591-1606.
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Rubenstein E, Ehrenthal DB, Mallinson DC, Bishop L, Kuo HH, Durkin MS. Birth outcomes affecting infants of mothers with intellectual and developmental disabilities. Paediatr Perinat Epidemiol. 2021 11; 35(6):706-716.
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Mubungu G, Makay P, Boujemla B, Yanda S, Posey JE, Lupski JR, Bours V, Lukusa P, Devriendt K, Lumaka A. Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A. 2021 03; 185(3):990-994.
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Rubenstein E, Ehrenthal DB, Mallinson DC, Bishop L, Kuo HH, Durkin M. Pregnancy complications and maternal birth outcomes in women with intellectual and developmental disabilities in Wisconsin Medicaid. PLoS One. 2020; 15(10):e0241298.