Berry SA - Search Results

1

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.

McNeill AM, Hudock RL, Foy AMH, Shanley R, Semrud-Clikeman M, Pierpont ME, Berry SA, Sommer K, Moertel CL, Pierpont EI. McNeill AM, et al. Among authors: berry sa. Am J Med Genet A. 2019 Dec;179(12):2433-2446. doi: 10.1002/ajmg.a.61361. Epub 2019 Sep 30. Am J Med Genet A. 2019. PMID: 31566897

2

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

Pierpont EI, Hudock RL, Foy AM, Semrud-Clikeman M, Pierpont ME, Berry SA, Shanley R, Rubin N, Sommer K, Moertel CL. Pierpont EI, et al. Among authors: berry sa. J Neurodev Disord. 2018 Jun 18;10(1):21. doi: 10.1186/s11689-018-9239-8. J Neurodev Disord. 2018. PMID: 29914349 Free PMC article.

3

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Pillai NR, Miller D, Pierpont EI, Berry SA, Aggarwal A. Pillai NR, et al. Among authors: berry sa. Am J Med Genet A. 2021 Jun;185(6):1870-1874. doi: 10.1002/ajmg.a.62170. Epub 2021 Mar 17. Am J Med Genet A. 2021. PMID: 33729671

4

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.

Wiens K, Berry SA, Choi H, Gaviglio A, Gupta A, Hietala A, Kenney-Jung D, Lund T, Miller W, Pierpont EI, Raymond G, Winslow H, Zierhut HA, Orchard PJ. Wiens K, et al. Among authors: berry sa. Am J Med Genet A. 2019 Jul;179(7):1205-1213. doi: 10.1002/ajmg.a.61171. Epub 2019 May 10. Am J Med Genet A. 2019. PMID: 31074578 Free PMC article.

5

Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).

Pierpont EI, Berry SA, Lin AE, Lohr JL, Schimmenti LA, Dobyns WB. Pierpont EI, et al. Among authors: berry sa. Am J Med Genet A. 2021 Feb;185(2):319-323. doi: 10.1002/ajmg.a.61963. Epub 2020 Nov 26. Am J Med Genet A. 2021. PMID: 33241662 No abstract available.

6

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL. Gossai N, et al. Among authors: berry sa. Am J Med Genet A. 2015 Dec;167A(12):3186-91. doi: 10.1002/ajmg.a.37356. Epub 2015 Sep 14. Am J Med Genet A. 2015. PMID: 26364901

7

A novel microdeletion/microduplication syndrome of 19p13.13.

Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B. Dolan M, et al. Among authors: berry sa. Genet Med. 2010 Aug;12(8):503-11. doi: 10.1097/GIM.0b013e3181e59291. Genet Med. 2010. PMID: 20613546 Free article.

8

Jarcho-Levin syndrome: four new cases and classification of subtypes.

Karnes PS, Day D, Berry SA, Pierpont ME. Karnes PS, et al. Among authors: berry sa. Am J Med Genet. 1991 Sep 1;40(3):264-70. doi: 10.1002/ajmg.1320400304. Am J Med Genet. 1991. PMID: 1951427 Review.

9

Neuroblastoma in a patient with Sotos' syndrome.

Nance MA, Neglia JP, Talwar D, Berry SA. Nance MA, et al. Among authors: berry sa. J Med Genet. 1990 Feb;27(2):130-2. doi: 10.1136/jmg.27.2.130. J Med Genet. 1990. PMID: 2319581 Free PMC article.

10

Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.

Aggarwal A, Pillai NR, Billington CJ Jr, Schema L, Berry SA. Aggarwal A, et al. Among authors: berry sa. Am J Med Genet A. 2022 Apr;188(4):1239-1244. doi: 10.1002/ajmg.a.62608. Epub 2021 Dec 14. Am J Med Genet A. 2022. PMID: 34905296

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