Wongkittichote P - Search Results

1

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Wongkittichote P, Choi TI, Kim OH, Riley K, Koeberl D, Narayanan V, Ramsey K, Balak C, Schwartz CE, Cueto-Gonzalez AM, Casadesus FM, Kim CH, Shinawi MS. Wongkittichote P, et al. Clin Genet. 2023 Feb;103(2):167-178. doi: 10.1111/cge.14248. Epub 2022 Oct 31. Clin Genet. 2023. PMID: 36250278

2

Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy.

Wongkittichote P, Cook EB, Reynoso Santos FJ, Ahrens-Nicklas RC, Hong X, Ganetzky RD. Wongkittichote P, et al. J Appl Lab Med. 2024 Mar 1;9(2):404-407. doi: 10.1093/jalm/jfad060. J Appl Lab Med. 2024. PMID: 37883603 No abstract available.

3

Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.

Wongkittichote P, Wegner DJ, Shinawi MS. Wongkittichote P, et al. J Hum Genet. 2021 Jul;66(7):717-724. doi: 10.1038/s10038-020-00892-9. Epub 2021 Jan 30. J Hum Genet. 2021. PMID: 33517344

4

Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Wongkittichote P, Magistrati M, Shimony JS, Smyser CD, Fatemi SA, Fine AS, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Mol Genet Metab. 2022 Aug;136(4):260-267. doi: 10.1016/j.ymgme.2022.07.002. Epub 2022 Jul 5. Mol Genet Metab. 2022. PMID: 35820270

5

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Elsharkawi I, Wongkittichote P, Daniel EJP, Starosta RT, Ueda K, Ng BG, Freeze HH, He M, Shinawi M. Elsharkawi I, et al. Among authors: wongkittichote p. J Inherit Metab Dis. 2023 Jan;46(1):92-100. doi: 10.1002/jimd.12565. Epub 2022 Oct 17. J Inherit Metab Dis. 2023. PMID: 36214423 Free PMC article.

6

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ₁₀ deficiency: Hypomorphic variants and two distinct disease entities.

Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Mol Genet Metab. 2023 Aug;139(4):107630. doi: 10.1016/j.ymgme.2023.107630. Epub 2023 Jun 22. Mol Genet Metab. 2023. PMID: 37392700 Free PMC article.

7

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant.

Wongkittichote P, Upchurch GM, Dehner LP, Wood T, Granadillo JL. Wongkittichote P, et al. Mol Genet Metab Rep. 2021 Mar 25;27:100747. doi: 10.1016/j.ymgmr.2021.100747. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33854947 Free PMC article.

8

Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma.

Wongkittichote P, Kondis JS, Peglar LM, Strahle JM, Miller-Thomas M, Abell KB. Wongkittichote P, et al. Am J Med Genet A. 2022 May;188(5):1538-1544. doi: 10.1002/ajmg.a.62647. Epub 2022 Jan 10. Am J Med Genet A. 2022. PMID: 35006644

9

Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter.

Wongkittichote P, Mar SS, McKinstry RC, Nguyen H. Wongkittichote P, et al. Front Genet. 2022 Jun 17;13:893057. doi: 10.3389/fgene.2022.893057. eCollection 2022. Front Genet. 2022. PMID: 35783294 Free PMC article.

10

Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.

Wongkittichote P, Chhay C, Zerafati-Jahromi G, Weisenberg JL, Mian A, Jensen LT, Grange DK. Wongkittichote P, et al. Mol Genet Metab. 2023 Mar;138(3):107373. doi: 10.1016/j.ymgme.2023.107373. Epub 2023 Jan 7. Mol Genet Metab. 2023. PMID: 36680912

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

30 results

Search Page

Filters