H. Ropers

H. Ropers, A. Ludolph, R. Ullmann, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein‐1 (REP‐1) gene

H. Ropers, M. Schwartz, H. van Bokhoven, 1997, Human mutation.

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

R. Reinhardt, A. Beck, R. Roepman, 1996, Human molecular genetics.

Erratum to the report of the third international workshop on human Y chromosome mapping 1997

A. Uitterlinden, E. Mullaart, A. Protopopov, 1997 .

4q35 deletion and 10p15 duplication associated with immunodeficiency

Z. Tümer, N. Tommerup, H. Ropers, 2006, American journal of medical genetics. Part A.

The molecular basis of X‐linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation

C. Cremers, F. Cremers, H. Ropers, 1997, Human mutation.

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

Wei Chen, H. Ropers, C. Spaich, 2007, American Journal of Medical Genetics. Part A.

Rare diseases: human genome research is coming home

H. Ropers, C. V. van Karnebeek, 2022, Cold Spring Harbor molecular case studies.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

J. Gécz, S. Haas, H. Ropers, 2012, American journal of human genetics.

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

J. Gécz, C. Skinner, C. Schwartz, 2010, American journal of human genetics.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

University of Dundee BOD 1 Is Required for Cognitive Function in Humans and Drosophila

Seyed, H. Scherthan, U. Felbor, 2016 .

CGHPRO – A comprehensive data analysis tool for array CGH

Wei Chen, Fikret Erdogan, H.-Hilger Ropers, 2005, BMC Bioinformatics.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2010, American journal of human genetics.

Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22.

H. Ropers, H. Nothwang, S. Kübart, 2000, Biochemical and biophysical research communications.

Abstracts of workshop presentations (Part 1 of 13)

R. L. Miller, D. Cox, C. Bloomfield, 1985 .

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation

L. Willatt, N. Tommerup, M. Ferguson-Smith, 2002, Journal of medical genetics.

Genetic and physical demarcation of the locus for dystrophia myotonica.

H. Ropers, B. Wieringa, T. Hulsebos, 1988, Advances in neurology.

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)

H. Ropers, V. Kalscheuer, A. Tzschach, 2008, Ophthalmic genetics.

Single gene disorders come into focus - again

H. Ropers, 2010, Dialogues in clinical neuroscience.

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

A. Hüttenhofer, N. Tommerup, H. Ropers, 2001, Human molecular genetics.

Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon

C. Romano, H. Ropers, F. Martínez, 2010, Human mutation.

Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation

R. Reinhardt, S. Lenzner, H. Ropers, 2006, Human mutation.

A high-resolution interval map of the q21 region of the human X chromosome.

A. Monaco, F. Cremers, H. Ropers, 1995, Genomics.

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

M. Pembrey, M. Bitner-Glindzicz, W. Reardon, 1994, Journal of medical genetics.

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK

C. Cremers, H. Brunner, H. Ropers, 1988, Human Genetics.

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Seth M. Kelly, H. Ropers, K. Moberg, 2011, Proceedings of the National Academy of Sciences.

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

H. Ropers, J. Fryns, J. Chelly, 2010, neurogenetics.

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

H. Ropers, A. Tzschach, K. Kahrizi, 2008, American journal of human genetics.

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Benjamin R. Rost, H. Ropers, D. Schmitz, 2007, American journal of human genetics.

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

E. Mariman, F. Gabreëls, F. Baas, 1994, Human Genetics.

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

J. Gécz, P. Palta, H. Ropers, 2007, European journal of medical genetics.

X-linked mental retardation: many genes for a complex disorder.

H. Ropers, 2006, Current opinion in genetics & development.

Differences in the pattern of X-linked gene expression between fetal bovine muscle and fibroblast cultures derived from the same muscle biopsies

H. Ropers, U. Nuber, W. King, 2005, Cytogenetic and Genome Research.

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

Wei Chen, A. Latos-Bieleńska, H. Omran, 2006, Human Genetics.

Breakpoints around the HOXD cluster result in various limb malformations

S. Mundlos, A. Silahtaroglu, Z. Tümer, 2005, Journal of Medical Genetics.

Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription.

H. Ropers, V. Kalscheuer, M. Schepens, 1996, Genomics.

Preferential X inactivation in human placenta membranes: Is the paternal X inactive in early embryonic development of female mammals?

H. Ropers, G. Wolff, H. Hitzeroth, 1978, Human Genetics.

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.

Marco Y. Hein, J. Gécz, S. Lenzner, 2013, The Journal of clinical investigation.

X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq

T. Wienker, H. Ropers, P. Wieacker, 2004, Human Genetics.

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocation

H. Ropers, O. Zuffardi, L. Tiepolo, 2004, Human Genetics.

Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations

H. Ropers, M. Fraccaro, A. Westerveld, 2004, Human Genetics.

Inheritance of the S-Form of NADP-Dependent Isocitrate Dehydrogenase Polymorphism in Rainbow Trout

H. Ropers, W. Engel, U. Wolf, 1973 .

Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome

K. Davies, H. Ropers, P. Wieacker, 2004, Human Genetics.

Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Clinical genetics.

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy

B. Dan, H. Ropers, V. Kalscheuer, 2005, Human Genetics.

UniGene cDNA array-based monitoring of transcriptome changes during mouse placental development

H. Himmelbauer, H. Lehrach, H. Ropers, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression.

C. Polychronakos, H. Ropers, V. Kalscheuer, 1998, Biochemical and biophysical research communications.

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.

A. Bird, H. Ropers, Tim C. Roloff, 2005, Human molecular genetics.

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

E. Mariman, C. Cremers, H. Ropers, 2004, Human Genetics.

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

H. Ropers, J. Fryns, B. Hamel, 2005, European Journal of Human Genetics.

BMC Genomics BioMed Central Research article Comparative study of methyl-CpG-binding domain proteins

H. Ropers, Tim C. Roloff, U. Nuber, 2003 .

MECP2 is highly mutated in X-linked mental retardation.

H. Ropers, J. Fryns, A. Verloes, 2001, Human molecular genetics.

Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis

A. Rump, H. Ropers, U. Nuber, 2003, Developmental dynamics : an official publication of the American Association of Anatomists.

Abstracts of workshop presentations (Part 13 of 13)

R. L. Miller, D. Cox, C. Bloomfield, 1985 .

Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

H. Brunner, H. Ropers, C. Boetes, 1995, American journal of medical genetics.

Simplified methods for the measurement and electrophoretic demonstration of hypoxanthine-guanine phosphoribosyl transferase

H. Ropers, 2005, Humangenetik.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, M. Schuelke, 2017, European Journal of Human Genetics.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

T. Wienker, H. Ropers, E. Knierim, 2016, European Journal of Human Genetics.

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.

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

J. Gécz, H. Ropers, J. Fryns, 2010, PathoGenetics.

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome

Z. Tümer, N. Tommerup, H. Ropers, 2007, European Journal of Human Genetics.

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

J. Gécz, H. Fuchs, D. Busch, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

A. Noor, J. Vincent, R. Weksberg, 2009, American journal of human genetics.

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q

E. Mariman, C. Cremers, H. Ropers, 1993, Human Genetics.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

A. Monaco, R. Cox, H. Ropers, 1999, Genomics.

Lchthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing *

H. Ropers, R. Happle, H. Hameister, 1984, Clinical genetics.

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements

J. Ramser, R. Kirschner, F. Cremers, 2001, Human Genetics.

Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays.

H. Ropers, U. Nuber, F. Erdogan, 2001, Nucleic acids research.

Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families.

H. Ropers, F. Schindera, W. Petrykowski, 1975, American journal of human genetics.

Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.

E. Mariman, H. Ropers, B. Hamel, 1996, American journal of medical genetics.

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts

H. Ropers, B. Tönshoff, W. Lehnert, 1982, Clinical genetics.

Distribution of G6PD phenotypes in red blood cells of Southern African Negroids: Evidence for somatic selection

H. Ropers, H. Hameister, G. Wolff, 1978, Human Genetics.

Tentative evidence for 3–4 haematopoetic stem cells in man

H. Ropers, H. Hitzeroth, K. Bender, 1977, Human Genetics.

Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: A delayed mutation?

H. Ropers, H. Szliwowski, 1979, Human Genetics.

Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever

E. Mariman, H. Ropers, J. Meer, 1994, Human Genetics.

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

R. Roepman, F. Cremers, H. Ropers, 2000, Human molecular genetics.

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Human Genetics.

Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome.

R. Hochstenbach, H. Ropers, F. Oerlemans, 1986, Cytogenetics and cell genetics.

Presymptomatic diagnosis of myotonic dystrophy.

H. Smeets, H. Brunner, B. V. van Oost, 1992, Journal of medical genetics.

EcoRI RFLP at 19 cen-q13.2 identified by the anonymous DNA sequence pPM6.7 (D19S18).

J. Bril, H. Ropers, B. Wieringa, 1987, Nucleic acids research.

A locus at 19cen-19q13.2 (D19S15) containing three RFLPs linked to myotonic dystrophy (DM) is recognized by probe pJSB6.

H. Ropers, B. Wieringa, J. Schepens, 1987, Nucleic acids research.

Abstracts of workshop presentations (Part 3 of 16)

J. N. Guidi, C. Bloomfield, K. Kidd, 1987 .

Definition of subchromosomal intervals around the myotonic dystrophy locus at 19q.

H. Ropers, F. Oerlemans, B. Wieringa, 1989, Progress in clinical and biological research.

11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features

H. Ropers, A. Kariminejad, A. Tzschach, 2010, American journal of medical genetics. Part A.

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability

H. Ropers, K. Kahrizi, H. Najmabadi, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3

H. Ropers, V. Kalscheuer, A. Tzschach, 2006, European Journal of Human Genetics.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

J. Gécz, H. Ropers, M. Partington, 2003, Trends in genetics : TIG.

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

H. Ropers, A. Tzschach, K. Kahrizi, 2009, European Journal of Human Genetics.

A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.

H. Ropers, H. Van Esch, H. van Bokhoven, 2009, The Journal of molecular diagnostics : JMD.

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.

H. Ropers, K. Kahrizi, H. Najmabadi, 2009, European journal of medical genetics.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

T. Wienker, M. Jijiwa, H. Ropers, 2014, Annals of clinical and translational neurology.

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11

S. Lenzner, H. Ropers, G. Turner, 2007, European Journal of Human Genetics.

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

J. Gécz, C. Schwartz, N. Tommerup, 2005, Human Genetics.

Abstracts of workshop presentations (Part 12 of 13)

R. L. Miller, D. Cox, C. Bloomfield, 1985 .

An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus

H. Ropers, B. Oost, P. M. Zandvoort, 1990, Human Genetics.

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

P. Wesseling, H. Kremer, H. Ropers, 1999, Journal of medical genetics.

Physical mapping of DNA markers in the q13-q22 region of the human X chromosome.

F. Cremers, H. Ropers, C. Philippe, 1993, Genomics.

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

P. Marynen, K. Devriendt, H. Ropers, 2003, American journal of medical genetics. Part A.

Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1

C. Schwartz, F. Cremers, H. Ropers, 1994, Somatic cell and molecular genetics.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

Abstracts of workshop presentations (Part 4 of 13)

R. L. Miller, D. Cox, C. Bloomfield, 1985 .

The recombinant DNA revolution: implications for diagnosis and prevention of inherited disease.

H. Ropers, B. Wieringa, 1989, European journal of obstetrics, gynecology, and reproductive biology.

Deletion of the DXS165 locus in patients with classical Choroideremia

F. Cremers, H. Ropers, B. Wieringa, 1987, Clinical genetics.

On the future of genetic risk assessment

H. Ropers, 2012, Journal of Community Genetics.

Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations

A. Farhadi, H. Ropers, K. Kahrizi, 2013, Clinical genetics.

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

H. Ropers, A. Tzschach, K. Kahrizi, 2010, Journal of Medical Genetics.

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

Z. Tümer, N. Tommerup, H. Ropers, 2004, Journal of Medical Genetics.

The ins and outs of X-linked deafness type 3.

C. Cremers, F. Cremers, H. Ropers, 2000, Advances in oto-rhino-laryngology.

Characterization of FBX25, encoding a novel brain-expressed F-box protein.

H. Ropers, V. Kalscheuer, S. Schweiger, 2006, Biochimica et biophysica acta.

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

R. Pfundt, H. Ropers, P. Jayakar, 2021, HGG advances.

X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder

H. Ropers, U. Ketelsen, G. Wolff, 1993, Human Genetics.

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

T. Wienker, H. Stehr, H. Ropers, 2017, Human mutation.

The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies

T. Meitinger, A. Meindl, H. Ropers, 1993 .

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

H. Ropers, W. Berger, H. Hameister, 1996, Human molecular genetics.

TRPV1 acts as a synaptic protein and regulates vesicle recycling

E. Gundelfinger, H. Ropers, V. Kalscheuer, 2010, Journal of Cell Science.

Genetics of Mental Retardation

H. Ropers, A. Tzschach, 2007 .

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

H. Ropers, V. Kalscheuer, A. Tzschach, 2006, American Journal of Medical Genetics. Part A.

Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)

F. Cremers, H. Ropers, W. Berger, 2004, Human Genetics.

Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.

S. Lenzner, S. Feil, H. Ropers, 2002, Investigative ophthalmology & visual science.

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

S. Lenzner, H. Ropers, F. Rüschendorf, 2006, Human Genetics.

On the molecular basis of Sandhoff's disease

H. Ropers, U. Schwantes, 2004, Humangenetik.

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Lin Jun, Peter Marynen, Mark T. Ross, 1999, Nature Genetics.

Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.

M. Rocchi, F. Fahrenholz, S. Warren, 1992, Genomics.

Variable composition of X chromosomal mosaics: Due to asynchronous cell division during early embryogenesis?

H. Ropers, T. Grimm, 1977, Human Genetics.

Abstracts of workshop presentations pp. 1075-1091

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome

T. Wienker, K. Davies, H. Ropers, 2004, Human Genetics.

Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy.

H. Ropers, U. Ketelsen, N. Böhm, 1982, Helvetica paediatrica acta.

Localization of the gene for Cowden disease to chromosome 10q22–23

E. Mariman, D. Easton, R. Eeles, 1996, Nature Genetics.

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.

M. Nelen, H. Brunner, X. Breakefield, 1993, Science.

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

George J. Feldman, Andrea Ballabio, Maximilian Muenke, 1997, Nature Genetics.

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

H. Ropers, A. Tzschach, A. Konstantinidou, 2013, Clinical genetics.

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2022 .

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications.

Carolyn J. Brown, C. Brown, H. Lehrach, 2001, Human molecular genetics.

Mutations in the candidate gene for Norrie disease.

T. Meitinger, M. Warburg, A. Meindl, 1992, Human molecular genetics.

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

E. Mariman, H. Kremer, H. Ropers, 1999, American journal of medical genetics.

Mapping translocation breakpoints by next-generation sequencing.

Martin Vingron, Marcel H. Schulz, Fikret Erdogan, 2008, Genome research.

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

T. Wienker, E. Mariman, H. Brunner, 1999, American journal of human genetics.

Abstracts of workshop presentations pp. 1057-1074

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.

A. Deutman, H. Kremer, H. Ropers, 1994, Human molecular genetics.

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

H. Kremer, H. Ropers, J. Wit, 1993, Human molecular genetics.

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

T. Rosenberg, F. Cremers, H. Ropers, 1994, Human molecular genetics.

Abstracts of workshop presentations pp. 1023-1039

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

H. Smeets, M. Nelen, B. V. van Oost, 1992, The New England journal of medicine.

X-linked mental retardation

H. Ropers, G. Neri, B. Hamel, 2005, Nature Reviews Genetics.

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

H. Brunner, F. Cremers, H. Ropers, 1999, Genomics.

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome

H. Ropers, M. Goos, K. Kruse, 1983, European Journal of Pediatrics.

Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome

A. Latos-Bieleńska, H. Ropers, A. Tzschach, 2010, Clinical genetics.

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

T. Wienker, H. Ropers, K. Kahrizi, 2015, Archives of Iranian medicine.

Evaluating information content of SNPs for sample-tagging in re-sequencing projects

T. Wienker, H. Ropers, Wenfei Jin, 2015, Scientific Reports.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American Journal of Human Genetics.

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

E. Mariman, H. Brunner, H. Ropers, 1994, Human molecular genetics.

Fabry's disease: Heterozygote detection by hair root analysis

T. Wienker, H. Ropers, T. Grimm, 1976, Human Genetics.

Gene Expression Changes in the Course of Neural Progenitor Cell Differentiation

C. Scharff, H. Ropers, U. Nuber, 2004, The Journal of Neuroscience.

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

Fassnacht, A Dempfle, K. Lesch, 2011, Molecular Psychiatry.

Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1.

H. Ropers, V. Kalscheuer, U. Hornung, 2001, Genomics.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

H. Ropers, H. Christen, A. Grüters, 2014, Journal of Medical Genetics.

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

G. Oliveira, A. Vicente, R. Cotterill, 2008, European Journal of Human Genetics.

Brief report: reverse mutation in myotonic dystrophy.

H. Smeets, M. Nelen, H. Brunner, 1993, The New England journal of medicine.

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

P. Dechent, G. Helms, H. Ropers, 2013, JIMD reports.

Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

J. Gécz, Wei Chen, H. Ropers, 2007, European Journal of Human Genetics.

Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1.

H. Ropers, I. Scholten, I. Huber, 1996, Human molecular genetics.

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

H. Brunner, B. V. van Oost, H. Ropers, 1993, American journal of human genetics.

Myotonic dystrophy. Predictive value of normal results on clinical examination.

H. Ropers, B. Oost, Ben C.J. Hamel, 1991, Brain : a journal of neurology.

Comparative study of methyl-CpG-binding domain proteins

H. Ropers, Ulrike A. Nuber, Tim-Christoph Roloff, 2003, BMC Genomics.

Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Z. Tümer, N. Tommerup, H. Ropers, 2011, American journal of medical genetics. Part A.

High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

K. Roemer, H. Ropers, A. Ludolph, 2003, Neurology.

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

A. Latos-Bieleńska, H. Ropers, M. Wiśniewska, 2008, American journal of medical genetics. Part A.

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

H. Ropers, I. Janssen, H. Bokhoven, 2004, Journal of Medical Genetics.