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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network; McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. Accogli A, et al. Among authors: freedman sf. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005. Am J Hum Genet. 2019. PMID: 31585109 Free PMC article.
Behavioral Deficits at 18-22 Months of Age Are Associated with Early Cerebellar Injury and Cognitive and Language Performance in Children Born Extremely Preterm.
Duncan AF, Bann CM, Dempsey A, Peralta-Carcelen M, Hintz S; Eunice Kennedy Shriver National Institute of Child Health and Development Neonatal Research Network. Duncan AF, et al. J Pediatr. 2019 Jan;204:148-156.e4. doi: 10.1016/j.jpeds.2018.08.059. Epub 2018 Oct 3. J Pediatr. 2019. PMID: 30292492 Free PMC article. Clinical Trial.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Among authors: freedman s. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Extreme Preterm Infant Rates of Overweight and Obesity at School Age in the SUPPORT Neuroimaging and Neurodevelopmental Outcomes Cohort.
Vohr BR, Heyne R, Bann CM, Das A, Higgins RD, Hintz SR; Eunice Kennedy Shriver National Institute of Child Health, and Development Neonatal Research Network. Vohr BR, et al. J Pediatr. 2018 Sep;200:132-139.e3. doi: 10.1016/j.jpeds.2018.04.073. Epub 2018 May 21. J Pediatr. 2018. PMID: 29793869 Free PMC article. Clinical Trial.
Refractive Error Change and Overminus Lens Therapy for Childhood Intermittent Exotropia.
Writing Committee for the Pediatric Eye Disease Investigator Group; Pediatric Eye Disease Investigator Group; Chen AM, Erzurum SA, Chandler DL, Hercinovic A, Wu R, Vricella M, Waters AL, Ticho BH, Erickson JW, Han S, McDowell PS, Li Z, Kraker RT, Holmes JM, Cotter SA. Writing Committee for the Pediatric Eye Disease Investigator Group, et al. JAMA Ophthalmol. 2024 May 1;142(5):417-428. doi: 10.1001/jamaophthalmol.2024.0276. JAMA Ophthalmol. 2024. PMID: 38536764 Clinical Trial.
301 results