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Episignature analysis of moderate effects and mosaics.
Eur J Hum Genet. 2023 Sep;31(9):1032-1039. doi: 10.1038/s41431-023-01406-9. Epub 2023 Jun 26.
Eur J Hum Genet. 2023.
PMID: 37365401
Free PMC article.
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
Baalmann N, Spielmann M, Gillessen-Kaesbach G, Hanker B, Schmidt J, Lill CM, Hellenbroich Y, Greiten B, Lohmann K, Trinh J, Hüning I.
Baalmann N, et al. Among authors: hanker b.
Eur J Med Genet. 2023 Jul;66(7):104774. doi: 10.1016/j.ejmg.2023.104774. Epub 2023 Apr 28.
Eur J Med Genet. 2023.
PMID: 37120078
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Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.
Eurich B, Nitsche C, Lau M, Hanker B, Spiegler J, Stichtenoth G.
Eurich B, et al. Among authors: hanker b.
Children (Basel). 2022 May 28;9(6):797. doi: 10.3390/children9060797.
Children (Basel). 2022.
PMID: 35740734
Free PMC article.
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A.
Al-Jawahiri R, et al. Among authors: hanker b.
Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24.
Genet Med. 2022.
PMID: 35341651
Free PMC article.
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ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.
Parenti I, et al. Among authors: hanker b.
Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14.
Clin Genet. 2021.
PMID: 33955014
Free article.
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Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
Hanker B, Gillessen-Kaesbach G, Hüning I, Lüdecke HJ, Wieczorek D.
Hanker B, et al.
Eur J Hum Genet. 2022 Jan;30(1):126-132. doi: 10.1038/s41431-021-00865-2. Epub 2021 Mar 31.
Eur J Hum Genet. 2022.
PMID: 33785884
Free PMC article.
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Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J.
Zech M, et al. Among authors: hanker b.
Parkinsonism Relat Disord. 2020 Aug;77:70-75. doi: 10.1016/j.parkreldis.2020.06.027. Epub 2020 Jun 29.
Parkinsonism Relat Disord. 2020.
PMID: 32629324
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Genotype-phenotype correlation on 45 individuals with West syndrome.
Krey I, Krois-Neudenberger J, Hentschel J, Syrbe S, Polster T, Hanker B, Fiedler B, Kurlemann G, Lemke JR.
Krey I, et al. Among authors: hanker b.
Eur J Paediatr Neurol. 2020 Mar;25:134-138. doi: 10.1016/j.ejpn.2019.11.010. Epub 2019 Nov 26.
Eur J Paediatr Neurol. 2020.
PMID: 31791873
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