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Page 1
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.
Peeters-Scholte CMPCD, Adama van Scheltema PN, Klumper FJCM, Everwijn SMP, Koopmans M, Hoffer MJV, Koopmann TT, Ruivenkamp CAL, Steggerda SJ, van der Knaap MS, Santen GWE. Peeters-Scholte CMPCD, et al. Among authors: koopmann tt. Brain. 2017 Nov 1;140(11):e66. doi: 10.1093/brain/awx239. Brain. 2017. PMID: 29053797 No abstract available.
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning MA, Haak MC, Adama van Scheltema PN, Peeters-Scholte CMPCD, Koopmann TT, Nibbeling EAR, Aten E, den Hollander NS, Ruivenkamp CAL, Hoffer MJV, Santen GWE. de Koning MA, et al. Among authors: koopmann tt. Genet Med. 2019 Oct;21(10):2303-2310. doi: 10.1038/s41436-019-0499-9. Epub 2019 Mar 28. Genet Med. 2019. PMID: 30918357 Free article.
A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.
Achour A, Koopmann T, Castel R, Santen GWE, den Hollander N, Knijnenburg J, Ruivenkamp CAL, Arkesteijn SGJ, Ter Huurne J, Bisoen S, Verschuren M, Vijfhuizen L, Schaap R, Grimbergen A, Slomp J, Traeger-Synodinos J, Vrettou C, Pissard S, Galacteros F, Baas F, Harteveld CL. Achour A, et al. Blood. 2020 Oct 8;136(15):1789-1793. doi: 10.1182/blood.2020005934. Blood. 2020. PMID: 32589702 Free article. No abstract available.
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
Rizzuto V, Koopmann TT, Blanco-Álvarez A, Tazón-Vega B, Idrizovic A, Díaz de Heredia C, Del Orbe R, Pampliega MV, Velasco P, Beneitez D, Santen GWE, Waisfisz Q, Elting M, Smiers FJW, de Pagter AJ, Kerkhoffs JH, Harteveld CL, Mañú-Pereira MDM. Rizzuto V, et al. Among authors: koopmann tt. Front Physiol. 2021 Feb 5;12:628236. doi: 10.3389/fphys.2021.628236. eCollection 2021. Front Physiol. 2021. PMID: 33613322 Free PMC article.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Cappuccio G, et al. Among authors: koopmann tt. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):102-108. doi: 10.1002/ajmg.c.31973. Epub 2022 Apr 30. Am J Med Genet C Semin Med Genet. 2022. PMID: 35488810 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: koopmann tt. 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.
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Koopmann TT, Jamshidi Y, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Karimiani EG, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde HA, Ruivenkamp CAL, Teunissen AKK, Ten Harkel ADJ, van Duinen SG, Haak MC, Prada CE, Santen GWE, Maroofian R. Koopmann TT, et al. Eur J Hum Genet. 2023 Jan;31(1):97-104. doi: 10.1038/s41431-022-01204-9. Epub 2022 Oct 17. Eur J Hum Genet. 2023. PMID: 36253531 Free PMC article.
54 results