Kliniken & Institute … Institute Institute of Human… Research Department of Human… Selected publications …

Selected Research papers

Sex chromosomes, X-inactivation, Recombination


First evidence that closely related sequences on the X and Y chromosome can reside outside the pairing region

Cooke, Brown, Rappold, Nature, 1984


Isolation of the first hypervariable sequences from the human sex chromosomes

Cooke, Brown, Rappold, Nature, 1985


Identification of a testis-specific gene next to a CpG island

Rappold et al., EMBO J., 1987


First evidence that deletions within the pseudoautosomal region are associated with short stature / linear growth

Henke et al., Am. J. Hum. Genet., 1991


Identification of a pseudoautosomal gene that escapes X-inactivation and its homolog on Xq undergoes X-inactivation

Schiebel et al., Nature Genet., 1993


Double crossover in the human pseudoautosomal region and its bearing on crossover interference

Rappold et al., Hum. Mol. Genet., 1994


Identification of the protein kinase gene PKX1 as a site of chromosomal instability

Klink et al., Hum. Mol. Genet., 1995


Double strand breaks during yeast meiosis reflect meiotic recombination in the human genome

Klein et al., Nature Genet., 1996


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


Interchromosomal segmental duplication in the pericentromeric region of human Y chromosome

Kirsch et al., Genome Res., 2005

Homeobox genes SHOX and SHOX2


Identification of a homeobox gene, SHOX, underlying idiopathic short stature and Turner syndrome

Rao et al., Nature Genet., 1997


Identification and functional characterization of the homeobox gene SHOX2 implicated in brain, heart and limb development

Blaschke et al., PNAS, 1998


Evidence that the homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

Clement-Jones et al., Hum. Mol. Genet., 2000


Evidence that the Léri-Weill and Turner syndrome SHOX gene is a cell-type specific activator

Rao et al., Hum. Mol. Genet., 2001


First evidence that SHOX induces cellular growth arrest and apoptosis

Marchini et al., J. Biol. Chem., 2004


SHOX Enhancer sequences regulate expression in developing chicken limbs and associate with short stature phenotype

Sabherwal et al., Hum. Mol. Genet., 2007


First SHOX2 knock-out mouse model reveals essential functions in pacemaking development

Blaschke et al., Circulation, 2007


Isolation and characterization of BNP as first transcriptional target of SHOX

Marchini et al., Hum. Mol. Genet., 2007


Evidence that SHOX2 mediates Tbx5 activity by regulating BMP4 in the developing heart

Puskaric et al., Hum. Mol. Genet., 2010


Height matters – from monogenetics to common disease

Durand & Rappold, Nature Rev. Endocrin., 2013


SHOX triggers the lysomal pathway of apoptosis via oxidative stress

Hristov et al., Hum. Mol. Genet., 2014


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


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


First link between VCX gene and mental retardation

Fukami et al., Am. J. Hum. Genet., 2000


Identification of Rho-GTPase srGAP3 underlying mental retardation

Endris et al., PNAS, 2002


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


Identification of mutations in the SHANK2 synaptic scaffolding gene in autism and mental retardation (F1000)

Berkel et al., Nature Genet., 2010


Mutation in GRIN2A and B encoding regulatory subunits of NMDA receptor cause neurodevelopmental phenotypes

Endele et al., Nature Genet., 2010


Evidence that SrGAP3 interacts with Lamellipodin and regulates Rac-dependent cellular protrusion

Endris et al., J. Cell Science, 2011


Genetic mutation associated with intellectual disability: an exome-sequencing study

Rauch et al., Lancet, 2012


SHANK1 Deletions in Males with Autism Spectrum Disorder

Sato et al., Am.J. Hum. Genet., 2012


Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Berkel et al., Hum. Mol. Genet., 2012


Genetic and clinical diversity of SHANK mutations in autism spectrum disorder

Leblond et al., PloS Genet., 2014


Brain-specific Foxp1 deletion impairs neuronal development and causes autistic behaviour

Bacon et al., Mol. Psychiat., 2015


Identification and functional characterisation of SHANK2 variants in schizophrenia

Peykov et al., Mol. Psychiat., 2015


Sex-specific Foxp1 and Foxp2 expression in mouse brain and impact on ultrasonic vocalisation

Fröhlich et al., Hum. Mol. Genet., 2017


Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- mice

Fröhlich et al., PNAS, 2019


Gene mutations driving brain and gut dysfunction in autism

Niesler & Rappold, Mol.Psychiat., 2020


Imbalanced pre- and postsynaptic Shank2 functions affect social behaviour

Eltokhi et al., 2021


Mitochondrial dysfunction and oxidative stress explain cognitive and muscle impairment in FOXP1 syndrome

Wang, Fröhlich et al., 2021

Other disease topics


Mutation in sulfatase genes on Xp 22.3 in Chondrodysplasia punctata and implication for Warfarin embryopathy

Franco et al., Cell 1995


Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter

Gründemann et al., Nature Neuroscience, 1998


Exploring the genetics of irritable bowel syndrome: a GWA study

Ek et al., Gut, 2015


miR-16 and miR-125b are involved in barrier function dysregulation

Martinez et al., Gut, 2017


Clinical practice guidelines for the  care of girls and women with Turner syndrome

Gravholt et al., Eur. J. Endocrinol, 2017


Identification of SLC20A1 and SLC15A4 as risk factors for combined pituitary hormone deficiency

Simm et al, Genet Med., 2018