Ahrens-Nicklas R - Search Results

1

Noonan syndrome associated with hypoplastic left heart syndrome.

Lawrence KM, Burstein DS, Ahrens-Nicklas R, Gaynor JW, Nuri MA. Lawrence KM, et al. Cardiol Young. 2023 Apr;33(4):652-654. doi: 10.1017/S1047951122002529. Epub 2022 Aug 22. Cardiol Young. 2023. PMID: 35989466

2

Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.

Burstein DS, Gaynor JW, Griffis H, Ritter A, Connor MJO, Rossano JW, Lin KY, Ahrens-Nicklas RC. Burstein DS, et al. Pediatr Res. 2021 May;89(6):1470-1476. doi: 10.1038/s41390-020-1101-5. Epub 2020 Aug 3. Pediatr Res. 2021. PMID: 32746448 Free PMC article.

3

Electrocardiographic Findings in Genotype-Positive and Non-sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers.

Anvekar P, Stephens P Jr, Calderon-Anyosa RJC, Kauffman HL, Burstein DS, Ritter AL, Ahrens-Nicklas RC, Vetter VL, Banerjee A. Anvekar P, et al. Pediatr Cardiol. 2023 Sep 19. doi: 10.1007/s00246-023-03281-z. Online ahead of print. Pediatr Cardiol. 2023. PMID: 37725123

4

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.

Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Rippert AL, Ahrens-Nicklas RC. Keisling J, et al. Among authors: ahrens nicklas rc. J Pediatr. 2024 Feb;265:113808. doi: 10.1016/j.jpeds.2023.113808. Epub 2023 Nov 3. J Pediatr. 2024. PMID: 37923198

5

Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.

Kauffman H, Ahrens-Nicklas RC, Calderon-Anyosa RJC, Ritter AL, Lin KY, Rossano JW, Quartermain MD, Banerjee A. Kauffman H, et al. Pediatr Res. 2021 Aug;90(2):444-451. doi: 10.1038/s41390-020-01292-7. Epub 2020 Dec 14. Pediatr Res. 2021. PMID: 33318624

6

MYH7 variants cause complex congenital heart disease.

Ritter A, Leonard J, Gray C, Izumi K, Levinson K, Nair DR, O'Connor M, Rossano J, Shankar V, Chowns J, Marzolf A, Owens A, Ahrens-Nicklas RC. Ritter A, et al. Am J Med Genet A. 2022 Sep;188(9):2772-2776. doi: 10.1002/ajmg.a.62766. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491958

7

Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature.

Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson MP, O'Connor MJ, Ahrens-Nicklas R. Ritter A, et al. Am J Med Genet A. 2019 Jun;179(6):1042-1046. doi: 10.1002/ajmg.a.61123. Epub 2019 Mar 28. Am J Med Genet A. 2019. PMID: 30919579 Review.

8

Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.

Ritter A, Berger JH, Deardorff M, Izumi K, Lin KY, Medne L, Ahrens-Nicklas RC. Ritter A, et al. Am J Med Genet A. 2021 Jan;185(1):228-233. doi: 10.1002/ajmg.a.61928. Epub 2020 Oct 26. Am J Med Genet A. 2021. PMID: 33103328 Free PMC article.

9

Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency.

Ohl L, Kuhs A, Pluck R, Durham E, Noji M, Philip ND, Arany Z, Ahrens-Nicklas RC. Ohl L, et al. Among authors: ahrens nicklas rc. Mol Genet Metab Rep. 2024 May 10;39:101091. doi: 10.1016/j.ymgmr.2024.101091. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38770403 Free PMC article.

10

Atypical Williams syndrome in an infant with complete atrioventricular canal defect.

Ahrens-Nicklas RC, Reichert SL, Zackai EH, Kaplan PB. Ahrens-Nicklas RC, et al. Am J Med Genet A. 2015 Dec;167A(12):3108-12. doi: 10.1002/ajmg.a.37288. Epub 2015 Aug 14. Am J Med Genet A. 2015. PMID: 26271350

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