Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome

Neuhaus C., Eisenberger T., Decker C., Nagl S., Blank C., Pfister M., Kennerknecht I., Müller-Hofstede C., Charbel Issa P., Heller R., Beck B., Rüther K., Mitter D., Rohrschneider K., Steinhauer U., Korbmacher H., Huhle D., Elsayed S., Taha H., Baig S., Stöhr H., Preising M., Markus S., Moeller F., Lorenz B., Nagel-Wolfrum K., Khan A., Bolz H. (2017)

In: ((Bitte Journal prüfen)), 5(5).

Forschungsartikel (Zeitschrift)

Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry.

Dinkelacker V, Grüter M, Klaver P, Grüter T, Specht K, Weis S, Kennerknecht I, Elger CE, Fernandez G (2011)

In: Journal of Neurology, 258(5).

Forschungsartikel (Zeitschrift)

Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII.

Mayer K, Kennerknecht I, Steinmann B (2010)

In: European Journal of Human Genetics, 18(9).

Forschungsartikel (Zeitschrift)

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.

Lionetti E, Pavone P, Kennerknecht I, Failla G, Schepis C, De Pasquale R, Pavone L, Ruggieri M (2010)

In: Neuropediatrics, 41(2).

Forschungsartikel (Zeitschrift)

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE (2009)

In: European Journal of Human Genetics, 17(4).

Forschungsartikel (Zeitschrift)

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Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome Neuhaus C., Eisenberger T., Decker C., Nagl S., Blank C., Pfister M., Kennerknecht I., Müller-Hofstede C., Charbel Issa P., Heller R., Beck B., Rüther K., Mitter D., Rohrschneider K., Steinhauer U., Korbmacher H., Huhle D., Elsayed S., Taha H., Baig S., Stöhr H., Preising M., Markus S., Moeller F., Lorenz B., Nagel-Wolfrum K., Khan A., Bolz H. (2017) In: ((Bitte Journal prüfen)), 5(5). Forschungsartikel (Zeitschrift)
Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome). Ruggieri M, Roggini M, Kennerknecht I, Polizzi A, Distefano A, Pavone V (2011) In: Acta Pædiatrica, 100(1). Forschungsartikel (Zeitschrift)
Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry. Dinkelacker V, Grüter M, Klaver P, Grüter T, Specht K, Weis S, Kennerknecht I, Elger CE, Fernandez G (2011) In: Journal of Neurology, 258(5). Forschungsartikel (Zeitschrift)
Unexpected island effects at an extreme: reduced y chromosome and mitochondrial DNA diversity in nias. van Oven M, Hämmerle JM, van Schoor M, Kushnick G, Pennekamp P, Zega I, Lao O, Brown L, Kennerknecht I, Kayser M (2011) In: Molecular Biology and Evolution, 28(4). Forschungsartikel (Zeitschrift)
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII. Mayer K, Kennerknecht I, Steinmann B (2010) In: European Journal of Human Genetics, 18(9). Forschungsartikel (Zeitschrift)
Sorting chromosomes as a software-based exercise. Toddenroth D, Dugas M, Kennerknecht I (2010) In: Medical Education, 44(11). Forschungsartikel (Zeitschrift)
Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases. Lionetti E, Pavone P, Kennerknecht I, Failla G, Schepis C, De Pasquale R, Pavone L, Ruggieri M (2010) In: Neuropediatrics, 41(2). Forschungsartikel (Zeitschrift)
The early time course of compensatory face processing in congenital prosopagnosia. Stollhoff R, Jost J, Elze T, Kennerknecht I (2010) In: PloS one, 5(7). Forschungsartikel (Zeitschrift)
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE (2009) In: European Journal of Human Genetics, 17(4). Forschungsartikel (Zeitschrift)
Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans. Kennerknecht I, Pluempe N, Welling B (2008) In: Frontiers in bioscience : a journal and virtual library, 13. Forschungsartikel (Zeitschrift)