Sherr EH - Search Results

1

Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.

Numis AL, da Gente G, Sherr EH, Glass HC. Numis AL, et al. Among authors: sherr eh. Pediatr Res. 2022 Mar;91(4):896-902. doi: 10.1038/s41390-021-01509-3. Epub 2021 Apr 12. Pediatr Res. 2022. PMID: 33846556 Free PMC article.

2

Agenesis of the corpus callosum in California 1983-2003: a population-based study.

Glass HC, Shaw GM, Ma C, Sherr EH. Glass HC, et al. Among authors: sherr eh. Am J Med Genet A. 2008 Oct 1;146A(19):2495-500. doi: 10.1002/ajmg.a.32418. Am J Med Genet A. 2008. PMID: 18642362 Free PMC article.

3

Clinical Reasoning: An encephalopathic 3-day-old infant.

Gelfand AA, Sznewajs A, Glass HC, Jelin AC, Sherr EH. Gelfand AA, et al. Among authors: sherr eh. Neurology. 2011 Jul 5;77(1):e1-5. doi: 10.1212/WNL.0b013e3182231407. Neurology. 2011. PMID: 21727263 Free PMC article. No abstract available.

4

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. Akizu N, et al. Among authors: sherr eh. Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453666 Free PMC article.

5

Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism.

Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH. Jones-Davis DM, et al. Among authors: sherr eh. PLoS One. 2013 Apr 15;8(4):e61829. doi: 10.1371/journal.pone.0061829. Print 2013. PLoS One. 2013. PMID: 23613947 Free PMC article.

6

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S. Millan F, et al. Am J Med Genet A. 2016 Jul;170(7):1791-8. doi: 10.1002/ajmg.a.37670. Epub 2016 May 2. Am J Med Genet A. 2016. PMID: 27133397

7

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH. Marco EJ, et al. Among authors: sherr eh. BMC Med Genomics. 2018 May 25;11(1):50. doi: 10.1186/s12920-018-0362-x. BMC Med Genomics. 2018. PMID: 29801487 Free PMC article.

8

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Yuskaitis CJ, Ruzhnikov MRZ, Howell KB, Allen IE, Kapur K, Dlugos DJ, Scheffer IE, Poduri A, Sherr EH. Yuskaitis CJ, et al. Among authors: sherr eh. Pediatr Neurol. 2018 Oct;87:48-56. doi: 10.1016/j.pediatrneurol.2018.04.012. Epub 2018 May 7. Pediatr Neurol. 2018. PMID: 30174244 Free PMC article.

9

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.

Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH. Bina R, et al. Among authors: sherr eh. J Med Genet. 2020 Jul;57(7):461-465. doi: 10.1136/jmedgenet-2019-106193. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924697 Free PMC article.

10

Pediatric Neurology Research in the Twenty-First Century: Status, Challenges, and Future Directions Post-COVID-19.

Bonkowsky JL, deVeber G, Kosofsky BE; Child Neurology Society Research Committee. Bonkowsky JL, et al. Pediatr Neurol. 2020 Dec;113:2-12. doi: 10.1016/j.pediatrneurol.2020.08.012. Epub 2020 Aug 26. Pediatr Neurol. 2020. PMID: 32979654 Free PMC article.

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