Tise CG - Search Results

1

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.

Mares Beltran CF, Tise CG, Barrick R, Niehaus AD, Sponberg R, Chang R, Enns GM, Abdenur JE. Mares Beltran CF, et al. Among authors: tise cg. Genes (Basel). 2024 Jun 26;15(7):838. doi: 10.3390/genes15070838. Genes (Basel). 2024. PMID: 39062617 Free PMC article.

2

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Smith CM, Guinon K, Bachir S, Tise CG. Smith CM, et al. Among authors: tise cg. Prenat Diagn. 2024 Aug;44(9):1119-1122. doi: 10.1002/pd.6632. Epub 2024 Jul 9. Prenat Diagn. 2024. PMID: 38982229

3

Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels.

Cook S, Dunn E, Kornish J, Calderwood L, Campion M, Cusmano-Ozog KP, Tise CG. Cook S, et al. Among authors: tise cg. Genet Med. 2024 Apr;26(4):101055. doi: 10.1016/j.gim.2023.101055. Epub 2023 Dec 23. Genet Med. 2024. PMID: 38146699

4

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.

Gates RW, Webb BD, Stevenson DA, Jabs EW, DeFilippo C, Ruzhnikov MRZ, Tise CG. Gates RW, et al. Among authors: tise cg. Am J Med Genet A. 2023 Nov;191(11):2743-2748. doi: 10.1002/ajmg.a.63389. Epub 2023 Sep 7. Am J Med Genet A. 2023. PMID: 37675855

5

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.

Galarreta CI, Wong K, Carmichael J, Woods J, Tise CG, Niehaus AD, Schildt AJ, Verscaj CP, Cusmano-Ozog KP. Galarreta CI, et al. Among authors: tise cg. Am J Med Genet A. 2023 Aug;191(8):2057-2063. doi: 10.1002/ajmg.a.63234. Epub 2023 May 5. Am J Med Genet A. 2023. PMID: 37144748

6

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

Tise CG, Verscaj CP, Mendelsohn BA, Woods J, Lee CU, Enns GM, Stander Z, Hall PL, Cowan TM, Cusmano-Ozog KP. Tise CG, et al. Am J Med Genet A. 2023 Jun;191(6):1492-1501. doi: 10.1002/ajmg.a.63159. Epub 2023 Mar 8. Am J Med Genet A. 2023. PMID: 36883293

7

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.

Niehaus AD, Mendelsohn BA, Zimmerman B, Lee CU, Manning MA, Cusmano-Ozog KP, Tise CG. Niehaus AD, et al. Among authors: tise cg. Am J Med Genet A. 2023 May;191(5):1412-1417. doi: 10.1002/ajmg.a.63144. Epub 2023 Mar 2. Am J Med Genet A. 2023. PMID: 36863699

8

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

Tise CG, Palma MJ, Cusmano-Ozog KP, Matalon DR. Tise CG, et al. J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231154438. doi: 10.1177/23247096231154438. J Investig Med High Impact Case Rep. 2023. PMID: 36752093 Free PMC article.

9

Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation.

Cusmano-Ozog KP, Renck AK, Tise CG. Cusmano-Ozog KP, et al. Among authors: tise cg. JIMD Rep. 2022 Oct 13;63(6):563-567. doi: 10.1002/jmd2.12328. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341162 Free PMC article.

10

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

Tise CG, Matalon DR, Manning MA, Byers HM, Grover M. Tise CG, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221101844. doi: 10.1177/23247096221101844. J Investig Med High Impact Case Rep. 2022. PMID: 35638718 Free PMC article.

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