Selected Research papers
Sex chromosomes, X-inactivation, Recombination
1984 | First evidence that closely related sequences on the X and Y chromosome can reside outside the pairing region | Cooke, Brown, Rappold, Nature, 1984 |
1985 | Isolation of the first hypervariable sequences from the human sex chromosomes | Cooke, Brown, Rappold, Nature, 1985 |
1987 | Identification of a testis-specific gene next to a CpG island | Rappold et al., EMBO J., 1987 |
1991 | First evidence that deletions within the pseudoautosomal region are associated with short stature / linear growth | Henke et al., Am. J. Hum. Genet., 1991 |
1993 | Identification of a pseudoautosomal gene that escapes X-inactivation and its homolog on Xq undergoes X-inactivation | Schiebel et al., Nature Genet., 1993 |
1994 | Double crossover in the human pseudoautosomal region and its bearing on crossover interference | Rappold et al., Hum. Mol. Genet., 1994 |
1995 | Identification of the protein kinase gene PKX1 as a site of chromosomal instability | Klink et al., Hum. Mol. Genet., 1995 |
1996 | Double strand breaks during yeast meiosis reflect meiotic recombination in the human genome | Klein et al., Nature Genet., 1996 |
1997 | Evidence that abnormal XY interchange between protein kinase gene PRKX / PRKY accounts for XX males and XY females | Schiebel et al., Hum. Mol. Genet., 1997 |
2005 | Interchromosomal segmental duplication in the pericentromeric region of human Y chromosome | Kirsch et al., Genome Res., 2005 |
Homeobox genes SHOX and SHOX2
1997 | Identification of a homeobox gene, SHOX, underlying idiopathic short stature and Turner syndrome | Rao et al., Nature Genet., 1997 |
1998 | Identification and functional characterization of the homeobox gene SHOX2 implicated in brain, heart and limb development | Blaschke et al., PNAS, 1998 |
2000 | Evidence that the homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome | Clement-Jones et al., Hum. Mol. Genet., 2000 |
2001 | Evidence that the Léri-Weill and Turner syndrome SHOX gene is a cell-type specific activator | Rao et al., Hum. Mol. Genet., 2001 |
2004 | First evidence that SHOX induces cellular growth arrest and apoptosis | Marchini et al., J. Biol. Chem., 2004 |
2007 | SHOX Enhancer sequences regulate expression in developing chicken limbs and associate with short stature phenotype | Sabherwal et al., Hum. Mol. Genet., 2007 |
2007 | First SHOX2 knock-out mouse model reveals essential functions in pacemaking development | Blaschke et al., Circulation, 2007 |
2007 | Isolation and characterization of BNP as first transcriptional target of SHOX | Marchini et al., Hum. Mol. Genet., 2007 |
2010 | Evidence that SHOX2 mediates Tbx5 activity by regulating BMP4 in the developing heart | Puskaric et al., Hum. Mol. Genet., 2010 |
2013 | Height matters – from monogenetics to common disease | Durand & Rappold, Nature Rev. Endocrin., 2013 |
2014 | SHOX triggers the lysomal pathway of apoptosis via oxidative stress | Hristov et al., Hum. Mol. Genet., 2014 |
2016 | A track record on SHOX: from basic research to complex models and therapy | Marchini, Ogata, Rappold, Endocrine Rev., 2016 |
| 2017 | Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier for severity in SHOX deficiency | Montalbano et al., EMBO Mol. Medicine, 2017 |
2020 | Precise correction of SHOX2 mutations in iPSCs via gene editing and sib-selection | Sumer, Hoffmann et al., Stem Cell Reports, 2020 |
Neurodevelopmental Disorders: SHANKs, FOXP1 and other disease genes
2000 | First link between VCX gene and mental retardation | Fukami et al., Am. J. Hum. Genet., 2000 |
2002 | Identification of Rho-GTPase srGAP3 underlying mental retardation | Endris et al., PNAS, 2002 |
2003 | Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect and mental retardation | Muncke et al., Circulation, 2003 |
2010 | Identification of mutations in the SHANK2 synaptic scaffolding gene in autism and mental retardation (F1000) | Berkel et al., Nature Genet., 2010 |
2010 | Mutation in GRIN2A and B encoding regulatory subunits of NMDA receptor cause neurodevelopmental phenotypes | Endele et al., Nature Genet., 2010 |
2011 | Evidence that SrGAP3 interacts with Lamellipodin and regulates Rac-dependent cellular protrusion | Endris et al., J. Cell Science, 2011 |
2012 | Genetic mutation associated with intellectual disability: an exome-sequencing study | Rauch et al., Lancet, 2012 |
2012 | Sato et al., Am.J. Hum. Genet., 2012 | |
2012 | Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology | Berkel et al., Hum. Mol. Genet., 2012 |
2014 | Genetic and clinical diversity of SHANK mutations in autism spectrum disorder | Leblond et al., PloS Genet., 2014 |
2015 | Brain-specific Foxp1 deletion impairs neuronal development and causes autistic behaviour | Bacon et al., Mol. Psychiat., 2015 |
2015 | Identification and functional characterisation of SHANK2 variants in schizophrenia | Peykov et al., Mol. Psychiat., 2015 |
2017 | Sex-specific Foxp1 and Foxp2 expression in mouse brain and impact on ultrasonic vocalisation | Fröhlich et al., Hum. Mol. Genet., 2017 |
2019 | Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- mice | Fröhlich et al., PNAS, 2019 |
2020 | Gene mutations driving brain and gut dysfunction in autism | Niesler & Rappold, Mol.Psychiat., 2020 |
2021 | Imbalanced pre- and postsynaptic Shank2 functions affect social behaviour | Eltokhi et al., 2021 |
2021 | Mitochondrial dysfunction and oxidative stress explain cognitive and muscle impairment in FOXP1 syndrome | Wang, Fröhlich et al., 2021 |
Other disease topics
1995 | Mutation in sulfatase genes on Xp 22.3 in Chondrodysplasia punctata and implication for Warfarin embryopathy | Franco et al., Cell 1995 |
1998 | Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter | Gründemann et al., Nature Neuroscience, 1998 |
2015 | Exploring the genetics of irritable bowel syndrome: a GWA study | Ek et al., Gut, 2015 |
2017 | miR-16 and miR-125b are involved in barrier function dysregulation | Martinez et al., Gut, 2017 |
2017 | Clinical practice guidelines for the care of girls and women with Turner syndrome | Gravholt et al., Eur. J. Endocrinol, 2017 |
2018 | Identification of SLC20A1 and SLC15A4 as risk factors for combined pituitary hormone deficiency | Simm et al, Genet Med., 2018 |