Publications by authors named "Sylke Singer"

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Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions.
Thomas Liehr, Sylke Singer, Ulrike Mau-Holzmann, Stefanie Kankel, Niklas Padutsch

Genes (Basel)· June 2025

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Optical Genome Mapping Reveals Disruption of the Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation.
Rosa Catalina Lederbogen, Sabine Hoffjan, Charlotte Thiels, Ulrike Angelika Mau-Holzmann, Sylke Singer

Genes (Basel)· June 2024

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New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.
Sylke Singer, Anastasia Gazou, Marc Sturm, German Demidov, Pascale Mazzola

Am J Med Genet A· October 2021

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Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Wisam Habhab, Ulrike Mau-Holzmann, Sylke Singer, Angelika Rieß, Karl-Oliver Kagan

Am J Med Genet A· November 2020

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Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.
Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer

Mol Cytogenet· March 2018

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Discordance between ultrasound and cell free DNA screening for monosomy X.
Karl Oliver Kagan, Markus Hoopmann, Sylke Singer, Karin Schaeferhoff, Andreas Dufke

Arch Gynecol Obstet· August 2016

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Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
Martin Kehrer, Thomas Liehr, Tanja Benkert, Sylke Singer, Ute Grasshoff

Am J Med Genet A· March 2015

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12q24.33 deletion: report of a patient with intellectual disability and review of the literature.
Martin Kehrer, Sylke Singer, Ute Grasshoff, Karin Schäferhoff, Michael Bonin

Am J Med Genet A· June 2013

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De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature.
Chantal Farra, Sylke Singer, Andreas Dufke, Hanine Ashkar, Carla Monsef

Fertil Steril· November 2011

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Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
Thomas Eggermann, Sabrina Spengler, Nadine Bachmann, Michael Baudis, Ulrike A Mau-Holzmann, Sylke Singer

Am J Med Genet A· June 2010

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Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
Dominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, Bert B A de Vries, Andreas Dufke, Sylke Singer

Hum Mutat· July 2009

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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
Heike Starke, Angela Nietzel, Anja Weise, Anita Heller, Kristin Mrasek, Sylke Singer

Hum Genet· December 2003

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