G. Rappold

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First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome.

P. Whorwell, B. Funke, T. Berg, 2008, Human molecular genetics.

The Human Serotonin Type 3 Receptor Gene (HTR3A‐E) Allelic Variant Database

J. Celli, G. Rappold, B. Niesler, 2017, Human mutation.

5-HT(3) receptors: role in disease and target of drugs.

J. Walstab, G. Rappold, B. Niesler, 2010, Pharmacology & therapeutics.

Cloning, physical mapping and expression analysis of the human 5-HT3 serotonin receptor-like genes HTR3C, HTR3D and HTR3E.

J. Kapeller, G. Rappold, B. Niesler, 2003, Gene.

Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients

Margot Albus, Marcella Rietschel, Wolfgang Maier, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter

G. Rappold, D. Gründemann, B. Schechinger, 1998, Nature Neuroscience.

Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression

H. Dweep, G. Rappold, E. Decker, 2011, PloS one.

Trisomy of the short stature homeobox‐containing gene (SHOX), resulting from a duplication‐deletion of the X chromosome

I. Glass, G. Rappold, J. Batch, 2002, Clinical endocrinology.

An integrated YAC map of the human X chromosome.

A. Monaco, E. Holloway, D. Bentley, 1996, Genome research.

Height matters—from monogenic disorders to normal variation

G. Rappold, C. Durand, 2013, Nature Reviews Endocrinology.

Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.

F. Gianfrancesco, T. Esposito, M. D'urso, 2001, Genome research.

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Ute Moog, Volker Endris, Christian R. Marshall, 2010, Nature Genetics.

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

I. Glass, T. Strachan, R. Zeller, 2000, Human molecular genetics.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Elodie Ey, Thomas Bourgeron, Roberto Toro, 2014, PLoS genetics.

Direct Evidence for the Homo—Pan Clade

G. Rappold, W. Schempp, R. Wimmer, 2004, Chromosome Research.

Molecular characterization of a ring X chromosome in a male with short stature

J. Ellison, M. Tekin, G. Rappold, 2002, Human Genetics.

Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms

D. Vetrie, C. Catsman-Berrevoets, G. Rappold, 2004, Journal of Medical Genetics.

Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart

B. Bruneau, G. Rappold, H. Steinbeisser, 2010, Human molecular genetics.

Report of the Second International Workshop on Y Chromosome Mapping 1995.

Yun-Fai Chris Lau, Charles M. Bishop, C. Tyler-Smith, 1994 .

Characterization of a YAC contig spanning the pseudoautosomal region.

J. Ellison, J. Riley, H. Lehrach, 1995, Genomics.

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

G. Rappold, W. Blum, K. Schneider, 2005, American journal of human genetics.

Identification of a testis‐specific gene from the mouse t‐complex next to a CpG‐rich island.

H. Lehrach, R. Crkvenjakov, L. Stubbs, 1987, The EMBO journal.

Fetal Mesenchymal Stromal Cells Differentiating towards Chondrocytes Acquire a Gene Expression Profile Resembling Human Growth Plate Cartilage

J. Goeman, J. Post, N. Gretz, 2012, PloS one.

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment

G. Rappold, J. Ross, C. Quigley, 2015, Hormone Research in Paediatrics.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

G. Rappold, C. Deal, J. Ross, 2013, The Journal of clinical endocrinology and metabolism.

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

G. Rappold, E. Bakker, M. Losekoot, 2011, The Journal of clinical endocrinology and metabolism.

Familial Growth and Skeletal Features Associated with SHOX Haploinsufficiency

I. Glass, G. Rappold, J. Batch, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

SHOX Deficiency Disorders

G. Rappold, G. Binder, 2015 .

Short Stature Homeobox-Containing (SHOX) Gene Deficiency: Genetics and Growth Response to Growth Hormone Treatment in Comparison with Turner Syndrome

G. Rappold, W. Blum, C. Child, 2012 .

Hormones and Genes of Importance in Bone Physiology and Their Influence on Bone Mineralization and Growth in Turner Syndrome

G. Rappold, J. Baron, S. Manolagas, 2010, Hormone Research in Paediatrics.

Characterization of the rat, mouse, and human genes of growth/differentiation factor-15/macrophage inhibiting cytokine-1 (GDF-15/MIC-1).

K. Unsicker, G. Rappold, B. Schechinger, 1999, Gene.

Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome: A multicenter retrospective study

R. Spiller, T. Dinan, M. D’Amato, 2022, World journal of gastroenterology.

Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes

G. Rappold, S. Just, R. Roeth, 2021, Frontiers in Genetics.

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability.

G. Rappold, B. Horsthemke, G. Scherer, 1995, Human molecular genetics.

miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea

B. Klaus, G. Rappold, B. Niesler, 2017, Gut.

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

Zhichao Miao, G. Rappold, Muhammad Umair, 2020, Genes.

Genome-wide UPD screening in patients with intellectual disability

A. Ekici, G. Rappold, C. Schroeder, 2014, European Journal of Human Genetics.

The cellular function of srGAP3 and its role in neuronal morphogenesis

G. Rappold, V. Endris, C. Bacon, 2013, Mechanisms of Development.

A long range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere.

H. Lehrach, G. Rappold, 1988, Nucleic acids research.

The Short Stature Homeodomain Protein SHOX Induces Cellular Growth Arrest and Apoptosis and Is Expressed in Human Growth Plate Chondrocytes*

G. Rappold, J. Wit, S. Caldeira, 2004, Journal of Biological Chemistry.

SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.

G. Rappold, B. Niesler, A. Marchini, 2014, Human molecular genetics.

Genome-wide screening in human growth plates during puberty in one patient suggests a role for RUNX2 in epiphyseal maturation.

G. Stein, J. Post, N. Gretz, 2011, The Journal of endocrinology.

Human Mesenchymal Stem Cells Derived from Bone Marrow Display a Better Chondrogenic Differentiation Compared with Other Sources

S. Vukicevic, F. Locatelli, G. Rappold, 2007, Connective tissue research.

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset

M. Britschgi, G. Rappold, B. Niesler, 2020, Molecular Neurodegeneration.

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome

G. Mortier, G. Rappold, E. Bakker, 2007, European Journal of Human Genetics.

FISH localization of the human Y-homolog of protein kinase PRKX (PRKY) to Yp11.2 and two pseudogenes to 15q26 and Xq12-->q13.

G. Rappold, W. Schempp, B. Gläser, 1997, Cytogenetics and cell genetics.

Alu-Mediated Recombination Defect in IGF1R: Haploinsufficiency in a Patient with Short Stature

G. Rappold, G. Binder, M. Losekoot, 2013, Hormone Research in Paediatrics.

Cloning of genomic sequences from the human Y chromosome after purification by dual beam flow sorting

J. Gray, K. Davies, H. Ropers, 2004, Human Genetics.

Chromosome assignment of two cloned DNA probes hybridizing predominantly to human sex chromosomes

T. Cremer, C. Cremer, G. Rappold, 2004, Human Genetics.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

H. Ropers, D. Wieczorek, F. Kortüm, 2010, Nature Genetics.

Enhancer elements upstream of the SHOX gene are active in the developing limb

C. Tickle, G. Rappold, E. Decker, 2010, European Journal of Human Genetics.

Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients.

M. Rietschel, W. Maier, B. Bondy, 2001, Pharmacogenetics.

Assignment of a human homolog of the mouse Htr3 receptor gene to chromosome 11q23.1-q23.2.

E. Schröck, G. Rappold, B. Weiss, 1995, Genomics.

RIC-3 Exclusively Enhances the Surface Expression of Human Homomeric 5-Hydroxytryptamine Type 3A (5-HT3A) Receptors Despite Direct Interactions with 5-HT3A, -C, -D, and -E Subunits

C. Hammer, J. Walstab, D. Möller, 2010, The Journal of Biological Chemistry.

Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders

M. Gratacós, X. Estivill, S. Ehrlich, 2009, Pharmacogenetics and genomics.

Concise expert focus on a gene at the heart of pharmacogenomic research Serotonin type 3 receptor genes : HTR

C. Hammer, J. Kapeller, G. Rappold, 2008 .

Characterization of the Novel Human Serotonin Receptor Subunits 5-HT 3 C , 5-HT 3 D , and 5-HT 3 E □ S

J. Rietdorf, J. Kapeller, J. Walstab, 2007 .

Representing vulnerable populations in genetic studies: The case of the Roma

G. Rappold, Veronika Lipphardt, M. Surdu, 2021, Science in Context.

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1).

J. Weissenbach, D. Le Paslier, A. Ballabio, 1995, Genomics.

Rare SHANK2 variants in schizophrenia

M. Rietschel, M. Nöthen, G. Rappold, 2015, Molecular Psychiatry.

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Brenda J. Crowe, G. Rappold, B. Niesler, 2006, Journal of Medical Genetics.

Targeted Mutation Reveals Essential Functions of the Homeodomain Transcription Factor Shox2 in Sinoatrial and Pacemaking Development

W. Rottbauer, H. Schöler, A. G. Gittenberger-de Groot, 2007, Circulation.

The Homeobox Transcription Factor HOXA9 Is a Regulator of SHOX in U2OS Cells and Chicken Micromass Cultures

G. Rappold, E. Decker, C. Durand, 2012, PloS one.

The immunoglobulin κ locus: polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals

G. Rappold, H. Zachau, W. Pargent, 2004, Human Genetics.

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability

G. Rappold, J. Senderek, U. Moog, 2012, Molecular Syndromology.

Report of the Third International Workshop on Y Chromosome Mapping 1997. Heidelberg, Germany, April 13-16, 1997.

C. Tyler-Smith, P. Yen, M. Jobling, 1997, Cytogenetics and cell genetics.

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.

Y. Fukushima, G. Rappold, T. Ogata, 2000, American journal of medical genetics.

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.

P. Stankiewicz, G. Rappold, I. Hansmann, 2001, American journal of medical genetics.

Impaired miRNA regulation may lead to altered 5-HT4 receptor levels in IBS-D patients

G. Boeckxstaens, M. D’Amato, L. Houghton, 2013 .

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

G. Rappold, B. Niesler, T. Reinehr, 2002, The Journal of clinical endocrinology and metabolism.

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

M. Daly, M. Gazouli, M. Camilleri, 2013, Gut.

The serotonin receptor 3E variant is a risk factor for female IBS-D

R. Spiller, W. Lieb, M. Gazouli, 2022, Journal of Molecular Medicine.

A meta-analysis of immunogenetic association studies in of irritable bowel syndrome

R. Spiller, M. Camilleri, G. Boeckxstaens, 2013 .

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval

A. Meindl, H. Hellebrand, G. Rappold, 1994, Human Genetics.

The evolution of the azoospermia factor region AZFa in higher primates

G. Rappold, W. Schempp, R. Wimmer, 2004, Cytogenetic and Genome Research.

SHOX at a glance: from gene to protein

G. Rappold, A. Marchini, K. Schneider, 2007, Archives of physiology and biochemistry.

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

H. Knoblauch, G. Rappold, B. Schechinger, 2000, European Journal of Human Genetics.

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

W. Brown, G. Rappold, H. Cooke, 1985, Nature.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

D. Pinto, S. Scherer, T. Bourgeron, 2012, American journal of human genetics.

Double–strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome

G. Rappold, A. Sherman, G. Simchen, 1996, Nature Genetics.

A human pseudoautosomal gene, ADP/ATP translocase, escapes X–inactivation whereas a homologue on Xq is subject to X–inactivation

G. Rappold, B. Weiss, D. Wöhrle, 1993, Nature Genetics.

A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

A. Ballabio, M. Gebbia, C. Petit, 1995, Cell.

Short report Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS 15 : further evidence for the assignment of the critical region for a pseudoautosomal growth gene ( s )

Y. Fukushima, G. Rappold, T. Ogata, 2022 .

SHOX: Growth, Léri–Weill and Turner Syndromes

G. Rappold, R. Blaschke, Gudrun A Rappold, 2000, Trends in Endocrinology & Metabolism.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

V. Maloney, J. Crolla, N. S. Thomas, 2005, American journal of human genetics.

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

A. Rosenthal, A. Rump, G. Nordsiek, 1997, Nature Genetics.

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

A. Ballabio, G. Rappold, T. Ogata, 1996, American journal of medical genetics.

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females.

D. Page, C. Petit, D. Weil, 1997, Human molecular genetics.

FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY

G. Rappold, T. Ogata, G. Lombardi, 2000, Journal of medical genetics.

The critical region of overlap defining theAZFa male infertility interval of proximal Yq contains three transcribed sequences

G. Rappold, N. Lévy, P. Burgoyne, 1999, Journal of medical genetics.

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency

G. Rappold, T. Ogata, G. Binder, 2016, EMBO molecular medicine.

A Track Record on SHOX: From Basic Research to Complex Models and Therapy

Tsutomu Ogata, Antonio Marchini, Gudrun A. Rappold, 2016, Endocrine reviews.

SHOX in Short Stature Syndromes

G. Rappold, R. Blaschke, 2004, Hormone Research in Paediatrics.

The pseudoautosomal regions, SHOX and disease.

G. Rappold, R. Blaschke, Gudrun Rappold, 2006, Current opinion in genetics & development.

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

A. Jauch, G. Rappold, J. Tröger, 1999, American journal of medical genetics.

Ring Y chromosome: molecular characterization by DNA probes.

J. Weissenbach, G. Rappold, D. Ahlert, 1991, Cytogenetics and cell genetics.

Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere

G. Rappold, G. Matthijs, C. Foresta, 2002, Journal of medical genetics.

Clinical, Cytogenetic and Molecular Analysis of Three 46,XX Males

G. Rappold, M. Stopar, O. Rittinger, 1999, Journal of pediatric endocrinology & metabolism : JPEM.

Bibliography of Ulrich Wolf

C. Tyler-Smith, P. Yen, K. Hirschhorn, 2001, Cytogenetic and Genome Research.

Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference.

C. Fischer, G. Rappold, B. Weiss, 1994, Human molecular genetics.

High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin

G. Rappold, W. Schempp, T. Hierl, 1997, Chromosome Research.

Third International Workshop on Human Y Chromosome Mapping 1997, Heidelberg, April 13-16 1997: Report

C. Tyler-Smith, P. Yen, M. Jobling, 1997 .

The Azoospermia region AZFa: An evolutionar y view

G. Rappold, W. Schempp, R. Wimmer, 2003, Cytogenetic and Genome Research.

Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity

G. Rappold, T. Outeiro, Laetitia Francelle, 2020, Scientific Reports.

Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.

H. Döhner, P. Lichter, G. Rappold, 1999, Blood.

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

C. Tickle, J. Kapeller, G. Rappold, 2006, Human molecular genetics.

Genome-wide screening in human growth plates during puberty in one patient suggests a role for RUNX 2 in epiphyseal maturation

G. Stein, J. Post, N. Gretz, 2011 .

Srgap3–/– mice present a neurodevelopmental disorder with schizophrenia‐related intermediate phenotypes

H. Fuchs, T. Wieland, D. Bartsch, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Pseudoautosomal marker DXYS20 and manic depression.

S. Cichon, M. Rietschel, M. Nöthen, 1993, American Journal of Human Genetics.

Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome

G. Rappold, B. Weiss, S. Kirsch, 2003, Human Genetics.

A selective difference between human Y-chromosomal DNA haplotypes

C. Tyler-Smith, M. Jobling, G. Rappold, 1998, Current Biology.

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere.

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 1998, Human molecular genetics.

The pseudoautosomal regions of the human sex chromosomes

G. Rappold, 1993, Human Genetics.

Pseudoautosomal regions at the tip of the short and long arms of the human sex chromosomes

G. Rappold, 1996 .

Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping.

N. Arnheim, G. Rappold, S. Lien, 2000, American journal of human genetics.

Identification and functional characterization of rare SHANK2 variants in schizophrenia

M. Rietschel, M. Nöthen, T. Boeckers, 2015, Molecular Psychiatry.

Cytogenetic and molecular characterization of two isodicentric Y chromosomes.

P. Stankiewicz, E. Obersztyn, G. Rappold, 2001, American journal of medical genetics.

Physical assignment of the bovine MHC class IIa and class IIb genes

G. Rappold, A. Eggen, M. Schwerin, 1999, Cytogenetic and Genome Research.

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

I. Glass, G. Rappold, J. Batch, 2002, Journal of medical genetics.

The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.

G. Rappold, B. Niesler, M. Burnett, 2001, Human molecular genetics.

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

V. Beneš, A. Ballabio, W. Ansorge, 2000, American journal of human genetics.

Identi ﬁ cation and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

R. Pfundt, H. Brunner, P. Deriziotis, 2022 .

Sex Hormones Regulate SHANK Expression

R. Sprengel, G. Rappold, Henning Fröhlich, 2018, Front. Mol. Neurosci..

Elevated DNA sequence diversity in the genomic region of the phosphatase PPP2R3L gene in the human pseudoautosomal region

A. Rosenthal, A. Rump, C. Fischer, 2001, Cytogenetic and Genome Research.

Dynamic expression of the Slit‐Robo GTPase activating protein genes during development of the murine nervous system

G. Rappold, V. Endris, C. Bacon, 2009, The Journal of comparative neurology.

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders

C. Fischer, G. Rappold, S. Berkel, 2018, Journal of Neurodevelopmental Disorders.

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

H. Monyer, G. Rappold, C. Sticht, 2014, Molecular Psychiatry.

Genes Located In and Near the Human Pseudoautosomal Region are Located in the X-Y Pairing Region in Dog and Sheep

G. Rappold, W. Schempp, J. Graves, 1997, Chromosome Research.

A novel murine PKA-related protein kinase involved in neuronal differentiation.

G. Rappold, A. Monaghan, D. Bock, 2000, Genomics.

T. Ried, G. Rappold, A. Monaghan, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Trinucleotide repeat microsatellite in the 5' untranslated region of HLA-F.

G. Rappold, B. Weiss, 1994 .

c‐myc and immunoglobulin kappa light chain constant genes are on the 8q+ chromosome of three Burkitt lymphoma lines with t(2;8) translocations.

T. Cremer, G. Rappold, H. Hameister, 1984, EMBO Journal.

Complex Evolution of a Y-Chromosomal Double Homeobox 4 (DUX4)-Related Gene Family in Hominoids

G. Rappold, W. Schempp, S. Kirsch, 2009, PloS one.

Arrangement and localization of the human GM-CSF receptor alpha chain gene CSF2RA within the X-Y pseudoautosomal region.

G. Rappold, T. Willson, N. Gough, 1992, Genomics.

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

G. Rappold, T. Ogata, E. Rao, 1997, Human Genetics.

Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

G. Camerino, M. Wapenaar, G. Rappold, 1991, American journal of human genetics.

Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome.

E. Eichler, Royden A. Clark, R. Waterston, 2005, Genome research.

Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5‐HT3C, 5‐HT3D, and 5‐HT3E

J. Kapeller, F. Autschbach, F. Lasitschka, 2011, The Journal of comparative neurology.

Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy

M. Beckmann, C. Loehberg, A. Ekici, 2010, Acta obstetricia et gynecologica Scandinavica.

Naturally occurring variants in the HTR3B gene significantly alter properties of human heteromeric 5-hydroxytryptamine-3A/B receptors

C. Hammer, J. Walstab, H. Bönisch, 2008, Pharmacogenetics and genomics.

Serotonin type 3 receptor genes: HTR3A, B, C, D, E.

C. Hammer, J. Kapeller, G. Rappold, 2008, Pharmacogenomics.

Characterization of the Novel Human Serotonin Receptor Subunits 5-HT3C,5-HT3D, and 5-HT3E

J. Rietdorf, J. Kapeller, J. Walstab, 2007, Molecular Pharmacology.

Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients

B. Bondy, M. Ackenheil, C. Fischer, 2004, Clinical Rheumatology.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

G. Rappold, T. Ogata, C. Thiel, 2018, European Journal of Human Genetics.

Investigation of SHANK3 in schizophrenia

D. Rujescu, I. Giegling, M. Rietschel, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family

S. Wiemann, R. Wade, M. Schlesner, 2015, Journal of Medical Genetics.

Genetic and structural characterization of the human mitochondrial inner membrane translocase.

A. Reichert, K. Gempel, K. Gerbitz, 1999, Journal of molecular biology.

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

G. Rappold, V. Eckstein, S. Berkel, 2021, Scientific Reports.

Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants

R. Sprengel, G. Rappold, Ahmed Eltokhi, 2018, Front. Mol. Neurosci..

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

E. Schröck, A. Ekici, D. Wieczorek, 2012, American journal of human genetics.

Man to mouse--lessons learned from the distal end of the human X chromosome.

G. Rappold, R. Blaschke, 1997, Genome research.

Foxp1 Regulates Cortical Radial Migration and Neuronal Morphogenesis in Developing Cerebral Cortex

G. Rappold, Henning Fröhlich, J. Qu, 2015, PloS one.

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

Gudrun A. Rappold, G. Rappold, Claire Bacon, 2012, Human Genetics.

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

G. Rappold, J. Decker, W. Blum, 2009, Journal of Medical Genetics.

ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region

G. Rappold, W. Schempp, K. Schiebel, 2004, Human Genetics.

Correlation of SHOX2 Gene Amplification and DNA Methylation in Lung Cancer Tumors

D. Dietrich, G. Rappold, F. Erdogan, 2011, BMC Cancer.

Disrupted Mitochondrial Network Drives Deficits of Learning and Memory in a Mouse Model of FOXP1 Haploinsufficiency

G. Rappold, Henning Fröhlich, Jing Wang, 2022, Genes.

All shook up by SHOX deficiency.

G. Rappold, P. Saenger, A. Shanske, 2005, The Journal of pediatrics.

Functional and molecular early enteric biomarkers for Parkinson’s disease in mice and men

M. Britschgi, G. Rappold, B. Niesler, 2020, bioRxiv.

Transcriptional and Translational Regulation of the Léri-Weill and Turner Syndrome Homeobox Gene SHOX*

G. Rappold, H. Steinbeisser, A. Marchini, 2003, Journal of Biological Chemistry.

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

G. Rappold, B. Niesler, Henning Fröhlich, 2019, Proceedings of the National Academy of Sciences.

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

J. Rosenfeld, P. Tam, N. Gretz, 2020, PLoS genetics.

FGFR3 is a target of the homeobox transcription factor SHOX in limb development.

C. Rödelsperger, G. Rappold, J. Hecht, 2011, Human molecular genetics.

BNP is a transcriptional target of the short stature homeobox gene SHOX.

G. Rappold, Volker Hesse, M. Karperien, 2007, Human molecular genetics.

Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

Brenda J. Crowe, G. Rappold, D. Cao, 2007, The Journal of clinical endocrinology and metabolism.

Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements.

C. Tickle, G. Rappold, R. Blaschke, 2006, Developmental biology.

Phenotypic spectrum associated with CASK loss-of-function mutations

Soma Das, R. Scott, E. Ortibus, 2011, Journal of Medical Genetics.

Missense Mutations and Gene Interruption in PROSIT240, a Novel TRAP240-Like Gene, in Patients With Congenital Heart Defect (Transposition of the Great Arteries)

J. Goodship, G. Rappold, D. Driscoll, 2003, Circulation.

Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

R. Sprengel, A. Smit, G. Rappold, 2021, Molecular Psychiatry.

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

A. Monaco, D. Horn, T. Strom, 2010, Human mutation.

MEGAP impedes cell migration via regulating actin and microtubule dynamics and focal complex formation.

R. Sprengel, Marco Marcello, G. Rappold, 2006, Experimental cell research.

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

D. Bartsch, G. Rappold, V. Endris, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.

A. Jauch, G. Rappold, T. Eggermann, 2000, American journal of medical genetics.

Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation

R. Schnabel, G. Rappold, T. Zeller, 2019, Front. Genet..

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

The human pseudoautosomal regions: a review for genetic epidemiologists

T. Wienker, C. Fischer, G. Rappold, 2008, European Journal of Human Genetics.

Comparative mapping of Xp22 genes in hominoids – evolutionary linear instability of their Y homologues

P. Yen, A. Ballabio, G. Rappold, 1997, Chromosome Research.

A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders.

S. Cichon, M. Rietschel, M. Nöthen, 2014, Bipolar disorders.

Physical mapping of 14 new DNA markers isolated from the human distal Xp region.

A. Ballabio, C. Petit, M. Wapenaar, 1991, Genomics.

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability

J. Vincent, M. Rafiq, Farooq Naeem, 2016, Journal of Human Genetics.

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)

J. Goodship, G. Rappold, B. Niesler, 2005, BMC Medical Genetics.

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

E. Schröck, T. Neuhann, G. Rappold, 2010, American journal of medical genetics. Part A.

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

G. Rappold, C. Bacon, 2012, Human Genetics.

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes

G. Rappold, J. Baron, J. Lui, 2021, Frontiers in Endocrinology.

Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

M. Schlesner, G. Rappold, G. Hoffmann, 2020, Hormone Research in Paediatrics.

Europe’s Roma people are vulnerable to poor practice in genetics

G. Rappold, P. Pfaffelhuber, M. Wienroth, 2021, Nature.

The 3D positioning of ANT2 and ANT3 genes within female X chromosome territories correlates with gene activity.

R Eils, C Cremer, R. Eils, 1999, Experimental cell research.

Transposition of SRY into the ancestral pseudoautosomal region creates a new pseudoautosomal boundary in a progenitor of simian primates.

G. Rappold, D. Myrtek, W. Schempp, 1999, Human molecular genetics.

Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL.

G. Rappold, E. Rao, K. Ried, 1998, Human molecular genetics.

Refinement of the locus for X-linked recessive chondrodysplasia punctata

Y. Fukushima, G. Rappold, T. Ogata, 1995, Human Genetics.

Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study

S. Cichon, M. Rietschel, M. Nöthen, 2012, Translational Psychiatry.

Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder.

M. Rietschel, C. Fischer, G. Rappold, 2001, Pharmacogenetics.

Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation

W. Rottbauer, E. Schulze-Bahr, G. Rappold, 2016, Basic Research in Cardiology.

Pseudoautosomal repeat displays higher variability in Blacks than in Caucasians

G. Rappold, T. Huisman, A. Henke, 1992, Human Genetics.

Genetic map of the human pseudoautosomal region reveals a high rate of recombination in female meiosis at the Xp telomere.

C. Fischer, G. Rappold, A. Henke, 1993, Genomics.

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)

Y. Fukushima, G. Rappold, T. Ogata, 1995, Journal of medical genetics.

Murine transgenic embryonic stem cell lines for the investigation of sinoatrial node-related molecular pathways.

A. Jauch, G. Rappold, B. Niesler, 2017, Stem cell research.

Pulsed-Field Gel Electrophoresis: Protocols

G. Rappold, E. Rao, B. Weiss, 1999 .

Congenital Conductive Hearing Loss in Dyschondrosteosis

C. Cremers, A. Kuijpers-Jagtman, G. Rappold, 2003, The Annals of otology, rhinology, and laryngology.

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

S. Scherer, R. Sprengel, M. Vogt, 2011, Human molecular genetics.

miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome

H. Dweep, G. Boeckxstaens, B. Burwinkel, 2017, Scientific Reports.

Preparative dual-beam sorting of the human Y chromosome and in situ hybridization of cloned DNA probes.

J. Gray, H. Ropers, C. Cremer, 1984, Cytometry.

Chromosomal localization of a human myosin heavy-chain gene by in situ hybridization

G. Rappold, H. Vosberg, 2004, Human Genetics.

Expression of SHOX in human fetal and childhood growth plate.

I. Glass, G. Rappold, J. Batch, 2004, The Journal of clinical endocrinology and metabolism.

Organisation of the murine 5‐HT3 receptor gene and assignment tohuman chromosome 11

P. Uetz, G. Rappold, B. Weiss, 1994, FEBS letters.

Network-driven discovery yields new insight into Shox2-dependent cardiac rhythm control.

G. Rappold, B. Niesler, W. Zimmermann, 2021, Biochimica et biophysica acta. Gene regulatory mechanisms.

Serotonin receptor genes HTR3A and HTR3B are not involved in Gilles de la Tourette syndrome.

J. Hebebrand, G. Rappold, B. Niesler, 2005, Psychiatric genetics.

Evolutionary breakpoint analysis on Y chromosomes of higher primates provides insight into human Y evolution

G. Rappold, W. Schempp, R. Wimmer, 2004, Cytogenetic and Genome Research.

Protein Kinase X: A Novel Human Protein Kinase closely related to the Catalytic Subunit of cAMP-dependent Protein Kinase

G. Rappold, B. Zimmermann, F. Herberg, 1997 .

Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX.

G. Rappold, T. Ogata, N. Matsuo, 2001, Endocrine journal.

Chromosomal localisation of a pseudoautosomal growth gene(s).

P. Goodfellow, P. Goodfellow, C. Petit, 1992, Journal of medical genetics.

W. Brown, G. Rappold, H. Cooke, 1984, Nature.

Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib Selection

A. Jauch, G. Rappold, S. Kääb, 2020, Stem cell reports.

Expression Profiling of Rectal Biopsies Suggests Altered Enteric Neuropathological Traits in Parkinson's Disease Patients.

D. Berg, G. Rappold, B. Niesler, 2020, Journal of Parkinson's disease.

Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein.

G. Rappold, M. Schnölzer, A. Marchini, 2006, Journal of molecular biology.

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

G. Rappold, K. Haug, W. Friedl, 2000, Journal of medical genetics.

Identification of Novel SHOX Target Genes in the Developing Limb Using a Transgenic Mouse Model

N. Gretz, G. Rappold, Li Li, 2014, PloS one.

Ralph haploinsufficiency stature : clinical indicators of SHOX Genotypes and phenotypes in children with short

Brenda J. Crowe, G. Rappold, B. Niesler, 2006 .

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri‐Weill dyschondrosteosis

G. Rappold, B. Niesler, A. Marchini, 2005, Human mutation.

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

S. Wiemann, R. Wade, M. Schlesner, 2017, European Journal of Human Genetics.

Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization

G. Rappold, Henning Fröhlich, N. Schmitt, 2017, Human molecular genetics.

Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome

G. Rappold, Henning Fröhlich, G. Poschet, 2021, Proceedings of the National Academy of Sciences.

Pseudoautosomal linkage of familial hodgkin's lymphoma: molecular analysis of a unique family with leri–weill dyschondrosteosis and hodgkins lymphoma

G. M. Taylor, J. Radford, G. Rappold, 2003, British journal of haematology.

The HTR3A polymorphism c. -42C>T is associated with amygdala responsiveness in patients with irritable bowel syndrome.

J. Bueller, C. Hammer, G. Rappold, 2011, Gastroenterology.

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

R. Spiller, W. Lieb, M. Gazouli, 2021, Journal of cellular and molecular medicine.

SrGAP3 interacts with lamellipodin at the cell membrane and regulates Rac-dependent cellular protrusions

D. Bartsch, G. Rappold, V. Endris, 2011, Journal of Cell Science.

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

S. Wiemann, M. Schlesner, G. Rappold, 2018, Genetics in Medicine.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

G. Rappold, T. Ogata, C. Thiel, 2018, European Journal of Human Genetics.

Postnatal human enteric neurospheres show a remarkable molecular complexity

F. Lasitschka, G. Rappold, B. Niesler, 2019, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Tbx4 interacts with the short stature homeobox gene Shox2 in limb development

N. Gretz, G. Rappold, Li Li, 2014, Developmental dynamics : an official publication of the American Association of Anatomists.

The novel human SHOX allelic variant database

C. Fischer, G. Rappold, B. Niesler, 2007, Human mutation.

The human SHOX mutation database

Christine Fischer, C. Fischer, G. Rappold, 2002, Human mutation.

Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray.

D. Geschwind, S. Nelson, J. Ellison, 1998, Developmental genetics.

Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia

W. Rottbauer, N. Gretz, G. Rappold, 2013, Basic Research in Cardiology.

SHOX: a geneticist's view.

G. Rappold, 2002, The Journal of clinical endocrinology and metabolism.

Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder

G. Rappold, B. Niesler, 2020, Molecular Psychiatry.

Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9.

G. Rappold, M. Laugsch, Kristin Rädecke, 2023, Stem cell research.

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells.

G. Rappold, B. Niesler, M. Granzow, 2017, Stem cell research.

Gremlin 1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis.

A. Hofman, A. Uitterlinden, F. Rivadeneira, 2012, Arthritis and rheumatism.

Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome

G. Rappold, A. Marchini, K. Schneider, 2004, Journal of Cell Science.

Molecular Characterization of Embryonic Stem Cell-Derived Cardiac Neural Crest-Like Cells Revealed a Spatiotemporal Expression of an Mlc-3 Isoform

G. Rappold, B. Niesler, S. Schmitteckert, 2019, International journal of stem cells.

Evidence for a Role of srGAP3 in the Positioning of Commissural Axons within the Ventrolateral Funiculus of the Mouse Spinal Cord

D. Bartsch, G. Rappold, V. Endris, 2011, PloS one.

Evidence for a role of srGAP 3 in the positioning of commissural axons within the ventrolateral funiculus of the mouse spinal cord

D. Bartsch, G. Rappold, V. Endris, 2017 .

GREM1, FRZB and DKK1 are key regulators of human articular cartilage homeostasis

A. Hofman, A. Uitterlinden, G. Rappold, 2012 .

The immunoglobulin κ locus: polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals

G. Rappold, H. Zachau, W. Pargent, 1993, Human Genetics.

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

G. Rappold, J. Decker, B. Weiss, 2009, Journal of Medical Genetics.

New roles of SHOX as regulator of target genes.

G. Rappold, E. Decker, A. Marchini, 2012, Pediatric endocrinology reviews : PER.

Comparative expression profiling in the intestine of patients with Giardia‐induced postinfectious functional gastrointestinal disorders

T. Hausken, F. Lasitschka, G. Rappold, 2020, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines.

A. Monaco, C. G. See, H. Lehrach, 1994, Genomics.

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male

A. Giannotti, G. Rappold, R. Mingarelli, 1999, Journal of medical genetics.