Shinawi MS - Search Results

1

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Mah-Som AY, Skrypnyk C, Guerin A, Seroor Jadah RH, Vardhan VN, McKinstry RC, Shinawi MS. Mah-Som AY, et al. Among authors: shinawi ms. Neurol Genet. 2021 Jan 12;7(1):e553. doi: 10.1212/NXG.0000000000000553. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33977139 Free PMC article.

2

Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.

Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR, Shinawi M. Euteneuer J, et al. Clin Genet. 2014 Nov;86(5):487-91. doi: 10.1111/cge.12305. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24246242

3

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, Shinawi M. Hsu T, et al. Child Neurol Open. 2017 Oct 8;4:2329048X17733214. doi: 10.1177/2329048X17733214. eCollection 2017 Jan-Dec. Child Neurol Open. 2017. PMID: 29051910 Free PMC article.

4

Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.

Parente DJ, Morris SM, McKinstry RC, Brandt T, Gabau E, Ruiz A, Shinawi M. Parente DJ, et al. Clin Genet. 2020 Mar;97(3):437-446. doi: 10.1111/cge.13675. Epub 2019 Dec 11. Clin Genet. 2020. PMID: 31721175

5

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS. Mah-Som AY, et al. Among authors: shinawi ms. Am J Hum Genet. 2023 Nov 2;110(11):1959-1975. doi: 10.1016/j.ajhg.2023.10.007. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883978 Free PMC article.

6

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H. Shinawi M, et al. Clin Genet. 2015 May;87(5):478-82. doi: 10.1111/cge.12407. Epub 2014 May 20. Clin Genet. 2015. PMID: 24738973

7

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M. Chung WK, et al. J Med Genet. 2015 Sep;52(9):627-35. doi: 10.1136/jmedgenet-2015-103140. Epub 2015 Jul 16. J Med Genet. 2015. PMID: 26185144

8

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study; Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. DeSanto C, et al. J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11. J Med Genet. 2015. PMID: 26264232

9

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. Dai H, et al. Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5. Clin Genet. 2017. PMID: 27743463

10

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. Among authors: shinawi ms. 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

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