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Page 1
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: koene s. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Among authors: koene s. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.
Koene S, Klerx-Melis F, Roest AAW, Kleijwegt MC, Bootsma M, Haak MC, van Haeringen MH, Ruivenkamp CAL, Nibbeling EAR, van Haeringen A. Koene S, et al. Am J Med Genet A. 2022 Dec;188(12):3510-3515. doi: 10.1002/ajmg.a.62929. Epub 2022 Aug 24. Am J Med Genet A. 2022. PMID: 36000780 Free PMC article.
Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.
Koene S, Peeters-Scholte CMPCD, Knijnenburg J, de Vries LS, van Scheltema PNA, Meuwissen ME, Steggerda SJ, Santen GWE. Koene S, et al. Am J Med Genet A. 2021 Feb;185(2):571-574. doi: 10.1002/ajmg.a.61988. Epub 2020 Nov 28. Am J Med Genet A. 2021. PMID: 33247988 Free PMC article.
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Lauffer P, Boudin E, van der Kaay DCM, Koene S, van Haeringen A, van Tellingen V, Van Hul W, Prickett TCR, Mortier G, Espiner EA, van Duyvenvoorde HA. Lauffer P, et al. Among authors: koene s. J Endocr Soc. 2022 Feb 10;6(4):bvac019. doi: 10.1210/jendso/bvac019. eCollection 2022 Apr 1. J Endocr Soc. 2022. PMID: 35233476 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 35851257
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Among authors: koene s. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
66 results