Hans‐hilger Ropers

Hans‐hilger Ropers's AcademicInfluence.com Rankings

Hans‐hilger Ropers

Biology

#10745

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#14099

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Genetics

#1147

World Rank

#1246

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Biology

Hans‐hilger Ropers's Degrees

PhD Genetics University of Cologne

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Hans‐hilger Ropers's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Deep sequencing reveals 50 novel genes for recessive cognitive disorders (2011) (843)
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. (2004) (755)
X-linked mental retardation (2005) (585)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009) (582)
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes (2010) (447)
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. (2007) (390)
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation (2000) (370)
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus (1995) (364)
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. (2005) (363)
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. (1996) (355)
Genetics of early onset cognitive impairment. (2010) (340)
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene (1995) (326)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (2007) (310)
Cloning of a gene that is rearranged in patients with choroideraemia (1990) (308)
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. (2003) (296)
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. (2004) (295)
MECP2 is highly mutated in X-linked mental retardation. (2001) (278)
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. (1976) (245)
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation (2000) (244)
The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans (1993) (242)
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. (2007) (242)
Mutations in NSUN2 cause autosomal-recessive intellectual disability. (2012) (240)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes (2015) (229)
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (2010) (224)
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (2008) (205)
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. (2005) (204)
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. (2000) (202)
High prevalence of SLC6A8 deficiency in X-linked mental retardation. (2004) (196)
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) (1998) (195)
X-linked mental retardation: many genes for a complex disorder. (2006) (190)
Genetics of intellectual disability. (2008) (189)
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. (2010) (183)
Epilepsy and mental retardation limited to females: an under-recognized disorder. (2008) (180)
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (2010) (176)
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation (2001) (174)
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. (2007) (174)
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. (2000) (173)
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome (2006) (170)
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome (1983) (162)
Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein‐1 (REP‐1) gene (1997) (161)
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. (1996) (159)
Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins (1992) (158)
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation (2003) (158)
Comparative study of methyl-CpG-binding domain proteins (2003) (153)
Cloning and characterization of the human choroideremia gene. (1994) (152)
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. (2008) (149)
Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1. (2001) (148)
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation (2002) (144)
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. (2008) (142)
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. (1999) (140)
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. (2009) (136)
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome (2013) (134)
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease (2008) (134)
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation (2009) (132)
New perspectives for the elucidation of genetic disorders. (2007) (130)
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. (1984) (128)
Genetics of intellectual disability in consanguineous families (2019) (127)
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation (2007) (124)
Gene Expression Changes in the Course of Neural Progenitor Cell Differentiation (2004) (121)
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. (2004) (119)
Genetics of recessive cognitive disorders. (2014) (117)
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci (2007) (112)
Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation (2006) (110)
Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium (2007) (109)
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (2003) (109)
An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. (1996) (105)
CGHPRO – A comprehensive data analysis tool for array CGH (2005) (104)
Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosis. (2002) (102)
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. (2003) (102)
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly (2005) (101)
Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. (1997) (99)
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome (2005) (98)
Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system (1997) (96)
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly (2010) (95)
ST3GAL3 mutations impair the development of higher cognitive functions. (2011) (94)
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity (2004) (93)
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. (1989) (93)
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation (2016) (89)
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. (2013) (89)
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. (2012) (88)
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. (2011) (87)
gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. (1999) (86)
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. (2006) (86)
Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome (2003) (85)
Nonsyndromic X-linked mental retardation: where are the missing mutations? (2003) (84)
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly (2006) (83)
Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays. (2001) (81)
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. (1995) (79)
Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome (2003) (79)
Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. (1986) (77)
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans (2011) (77)
Presymptomatic diagnosis of myotonic dystrophy. (1992) (74)
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome (2008) (73)
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. (2001) (73)
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. (1996) (72)
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care. (1999) (72)
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome (2007) (71)
On the future of genetic risk assessment (2012) (70)
Chromosome deletions in 13q33–34: Report of four patients and review of the literature (2008) (70)
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation (2005) (69)
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. (1997) (69)
Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis (2003) (68)
Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription. (1996) (68)
Evidence against a major role of PEG1/MEST in Silver–Russell syndrome (1998) (67)
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression (2008) (67)
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing (2010) (66)
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum (2014) (65)
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. (2013) (65)
Molecular characterisation of antidepressant effects in the mouse brain using gene expression profiling. (2002) (64)
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. (1996) (64)
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. (1995) (63)
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. (1992) (62)
Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q (1993) (62)
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome (2008) (60)
Different molecular mechanisms underlie placental overgrowth phenotypes caused by interspecies hybridization, cloning, and Esx1 mutation (2004) (60)
TRPV1 acts as a synaptic protein and regulates vesicle recycling (2010) (59)
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 (2007) (58)
Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome (1985) (58)
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. (1990) (57)
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. (2012) (57)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots (2011) (56)
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. (1989) (55)
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. (1988) (55)
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. (2001) (54)
Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). (1999) (54)
The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families (2015) (53)
Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). (1994) (52)
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). (1996) (52)
Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function (2010) (52)
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. (2004) (52)
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH (2007) (52)
Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue. (1999) (51)
UniGene cDNA array-based monitoring of transcriptome changes during mouse placental development (2001) (51)
X-linked steroid sulfatase: Evidence for different gene-dosage in males and females (2004) (51)
Redefining the MED13L syndrome (2015) (50)
Breakpoints around the HOXD cluster result in various limb malformations (2005) (50)
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation (2010) (50)
Preferential X inactivation in human placenta membranes: Is the paternal X inactive in early embryonic development of female mammals? (1978) (50)
A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family (2011) (49)
Effect of inbreeding on intellectual disability revisited by trio sequencing (2018) (49)
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 (2002) (48)
Evidence for preferential X-chromosome inactivation in a family with Fabry disease. (1977) (47)
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region (2007) (47)
Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1. (1999) (46)
Progressive myoclonus epilepsy (1979) (46)
MECP 2 is highly mutated in X-linked mental retardation (2001) (42)
Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors. (1990) (41)
Isolation and characterization of alphoid DNA sequences specific for the pericentric regions of chromosomes 4, 5, 9, and 19. (1988) (41)
Characterization of interstitial Xp duplications in two families by tiling path array CGH (2008) (41)
Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy (1989) (40)
Cytogenetic and biochemical differences between Apodemus sylvaticus and Apodemus flavicollis, possibly responsible for the failure to interbreed. (1973) (40)
Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene (2006) (40)
Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. (1992) (40)
X inactivation patterns in two syndromes with probable X‐linked dominant, male lethal inheritance (1985) (39)
Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocation (2004) (39)
X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq (2004) (38)
Variants in CUL4B are Associated with Cerebral Malformations (2015) (38)
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy (2005) (37)
Classical and Molecular Cytogenetics of the Pufferfish Tetraodon Nigroviridis (2004) (37)
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation (2013) (37)
BOD1 Is Required for Cognitive Function in Humans and Drosophila (2016) (36)
Integrated Sequence Analysis Pipeline Provides One‐Stop Solution for Identifying Disease‐Causing Mutations (2014) (35)
Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus. (1991) (34)
Divergent genetic and epigenetic post‐zygotic isolation mechanisms in Mus and Peromyscus (2004) (34)
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C (2010) (34)
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region (1987) (32)
Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis (2003) (32)
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations (2011) (32)
The molecular basis of X‐linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation (1997) (32)
Somatic Pairing Between Subtelomeric Chromosome Regions: Implications for Human Genetic Disease? (2004) (32)
Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22. (2000) (32)
Deletion of the DXS165 locus in patients with classical Choroideremia (1987) (31)
Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression? (2001) (31)
BRCA1-mediated repression of select X chromosome genes (2004) (31)
Preparative dual-beam sorting of the human Y chromosome and in situ hybridization of cloned DNA probes. (1984) (30)
Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome (2004) (30)
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. (1995) (30)
Four-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomes. (2002) (29)
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. (2015) (29)
Identification of apolipoprotein E polymorphism by using synthetic oligonucleotides. (1988) (28)
Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region. (1992) (28)
Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. (1993) (28)
Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. (1986) (28)
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis (2009) (27)
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness (2014) (27)
Characterization of FBX25, encoding a novel brain-expressed F-box protein. (2006) (27)
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome (2003) (27)
CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY BY USE OF CLONED DNA SEQUENCES (1983) (26)
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. (2006) (26)
Assignment of the gene coding for human catalase to the short arm of chromosome 11. (1980) (26)
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. (2015) (25)
A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2 (2006) (25)
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 (2011) (25)
Regional assignment of the gene locus for steroid sulfatase (2004) (25)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 (2010) (25)
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation (2017) (24)
X-linked mental retardation: transmission of the trait by an apparently unaffected male. (1978) (23)
Lchthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing * (1984) (23)
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK (1988) (23)
Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever (1994) (22)
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. (1994) (22)
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 (2003) (22)
Common pathological mutations in PQBP1 induce nonsense‐mediated mRNA decay and enhance exclusion of the mutant exon (2010) (22)
Assignment of the human aminopeptidase N (peptidase E) gene to chromosome 15q13‐qter (1988) (21)
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. (2008) (21)
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation (1992) (21)
Single gene disorders come into focus - again (2010) (21)
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder (2019) (21)
Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. (2015) (20)
The poliovirus sensitivity (PVS) gene is on chromosome 19q12----q13.2. (1988) (20)
HETEROZYGOTE DETECTION IN STEROID SULPHATASE DEFICIENCY (1980) (20)
Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements (2001) (20)
The ins and outs of X-linked deafness type 3. (2000) (20)
Steroid sulfatase activity in cultured fibroblasts of XX males. (1981) (20)
Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome (2004) (19)
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations (2013) (19)
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. (2019) (19)
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4 (2009) (19)
A high-resolution interval map of the q21 region of the human X chromosome. (1995) (19)
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family (2013) (19)
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia (2014) (19)
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome (2001) (19)
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement (2010) (19)
A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. (2019) (18)
Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase (1979) (18)
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. (2009) (18)
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 (2007) (18)
Ca++/CaMKII switches nociceptor‐sensitizing stimuli into desensitizing stimuli (2012) (18)
The MAS proto-oncogene is not imprinted in humans. (1996) (18)
On the incidence of unilateral and bilateral colour blindness in heterozygous females (1978) (18)
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH (2007) (18)
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (1994) (17)
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration (2015) (17)
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). (2002) (17)
Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait (2015) (17)
X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome (2004) (17)
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. (2004) (16)
Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability (2011) (16)
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. (1989) (16)
Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression. (1998) (16)
Genetic and physical demarcation of the locus for dystrophia myotonica. (1988) (15)
POLRMT mutations impair mitochondrial transcription causing neurological disease (2021) (15)
Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization (2009) (15)
Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations (2004) (15)
Assignment of the gene for human glucose dehydrogenase (E.C. 1.1.1.47) to chromosome 1 using somatic cell hybrids. (1978) (15)
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3 (2006) (15)
Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome (1983) (15)
Evidence for X-linkage and non-inactivation of steroid sulphatase locus in wood lemming (1982) (15)
Differences in the pattern of X-linked gene expression between fetal bovine muscle and fibroblast cultures derived from the same muscle biopsies (2005) (15)
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences (2006) (14)
Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 (1993) (14)
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia (2008) (14)
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. (1990) (14)
Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families. (1975) (13)
Inheritance of the S-Form of NADP-Dependent Isocitrate Dehydrogenase Polymorphism in Rainbow Trout (1973) (13)
Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
Adrenal insufficiency, myopathic hypotonia, severe psychomotor retardation, failure to thrive, constipation and bladder ectasia in 2 brothers: adrenomyodystrophy. (1982) (13)
Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis (2004) (12)
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males (2005) (12)
Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q (1987) (12)
4q35 deletion and 10p15 duplication associated with immunodeficiency (2006) (11)
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans (2018) (11)
Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts (1982) (11)
Cloning of the breakpoints of a deletion associated with choroideremia (1990) (11)
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. (1994) (11)
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris (2005) (11)
Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. (2002) (11)
Definition of subchromosomal intervals around the myotonic dystrophy locus at 19q. (1989) (10)
Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia. (2015) (10)
Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion (2006) (10)
DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner. (2000) (10)
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. (2007) (10)
Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome (2004) (10)
Fabry's disease: Heterozygote detection by hair root analysis (1976) (9)
Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis. (1986) (9)
Rede fi ning the MED 13 L syndrome (2015) (9)
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. (2009) (9)
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. (2015) (9)
[Propionic acidemia associated with hypertrophic pyloric stenosis and bouts of severe hyperglycemia (author's transl)]. (1980) (9)
Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence (2015) (9)
Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (1999) (9)
On the molecular basis of Sandhoff's disease (2004) (8)
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability (2018) (8)
Tentative evidence for 3–4 haematopoetic stem cells in man (1977) (8)
Mapping and cloning hereditary deafness genes. (1995) (8)
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies (1994) (8)
Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris (2004) (8)
Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability (2018) (8)
Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
Dominant optic atrophy with sensorineural hearing loss (1982) (7)
Genetics of Mental Retardation (2007) (7)
Interstitial deletion of 14q24.3‐q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects (2011) (7)
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2. (1994) (7)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. (1992) (6)
Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB) (2004) (6)
Flow cytometric characterization of a Chinese hamster x man hybrid cell line retaining the human Y chromosome (1982) (6)
A locus at 19cen-19q13.2 (D19S15) containing three RFLPs linked to myotonic dystrophy (DM) is recognized by probe pJSB6. (1987) (6)
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23) (2008) (6)
EcoRI RFLP at 19 cen-q13.2 identified by the anonymous DNA sequence pPM6.7 (D19S18). (1987) (6)
Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides (1988) (6)
Homozygous variants in the gene SCAPER cause syndromic intellectual disability (2019) (5)
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) (2004) (5)
Cosegregation of T108A Elk-1 with mental retardation. (2000) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder (1993) (5)
Alopecia–mental retardation syndrome: clinical and molecular characterization of four patients (2008) (5)
11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features (2010) (5)
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations (2014) (5)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
On the Genetic Interpretation of the 6 ‐Phosphogluconate‐Dehydrogenase‐Isozymes in Man 1 (1970) (4)
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families (2019) (4)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
Evidence that the Menkes locus maps on proximal Xp (2004) (4)
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) (2017) (4)
Erratum to the report of the third international workshop on human Y chromosome mapping 1997 (1997) (4)
Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
On the genetic length of the short arm of the human X chromosome (2004) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
Distribution of G6PD phenotypes in red blood cells of Southern African Negroids: Evidence for somatic selection (1978) (3)
Simplified methods for the measurement and electrophoretic demonstration of hypoxanthine-guanine phosphoribosyl transferase (2005) (3)
TaqI RFLP at 19q13.1 identified by the anonymous DNA sequence p5B18 [D19S28]. (1989) (3)
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations (2000) (3)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
Physical fine-mapping of a deletion spanning the Norrie gene (1989) (3)
A highly polymorphic microsatellite marker located within the choroideremia gene. (1996) (3)
Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients (2020) (3)
Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
Clinical and Molecular Aspects of Sjogren-Larsson Syndrome Reported in an Iranian Consanguineous Family with Triplet Affected Individuals (2012) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
MspI RFLP at 19cen-q12 identified by the anonymous DNA sequence pPM17.4 [D19S29]. (1989) (2)
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family—The Role of Next Generation Sequencing in Neuromuscular Disorders (2019) (2)
Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
A R T Ic L E (2017) (2)
Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
[Genetics of 6-phosphogluconate dehydrogenase (EC:1.1.1.44): a new variant F (Freiburg)]. (1970) (2)
solation of Two Novel Human RhoGEFs , ARHGEF 3 nd ARHGEF 4 , in 3 p 13-21 and 2 q 22 (2000) (2)
Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q. (2020) (2)
Growth hormone expression on mRNA level is significantly reduced in the brain of Ndp-knockout-mice. (2002) (1)
Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: A delayed mutation? (1979) (1)
Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
Contents Vol. 55, 1990 (1990) (1)
Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism (1993) (1)
An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus (1990) (1)
Congenital Muscular Dystrophy-Dystroglycanopathy (MDDGA1) in a Consanguineous Family with Compound Heterozygous Mutations of the POMT1 Gene and Variable Clinical Severity (2016) (1)
Massively parallel sequencing in >250 families with X-linked intellectual disability (2011) (1)
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature (2010) (1)
The presence of androgen-binding receptors in genital and nongenital skin fibroblasts (1980) (1)
Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
CLONED GENE PROBES FOR CARRIER DETECTION IN MUSCULAR DYSTROPHY (1983) (1)
A subtelomeric cryptic unbalanced translocation der (1)t(1;18)(q44;q23) in a severely retarded girl: similarities and differences to the deletion 1q42/43-ter syndrome (2001) (1)
Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
Variable composition of X chromosomal mosaics: Due to asynchronous cell division during early embryogenesis? (1977) (1)
Standard chromosome nomenclature (1981) (0)
Index by Keyword (1989) (0)
ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation (2006) (0)
A New Form of a Mitochondriopathy (2014) (0)
Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1 (1996) (0)
[Color blindness: in high school students less often than in elementary school pupils]. (1976) (0)
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C) (2016) (0)
The recombinant DNA revolution: implications for diagnosis and prevention of inherited disease. (1989) (0)
Abstracts of papers presented at the Mammalian Genetics Group meeting held in the Linnean Society Rooms, Piccadilly, London, on 28 and 29 November 1985 (2008) (0)
Identification and characterization of new mental retardation genes linked to the X chromosome (2005) (0)
Eleventh International Chromosome Conference (2004) (0)
within the choroideremia gene A highly polymorphic microsatellite marker located (1996) (0)
A model for the initiation and progression of non-chromaffin paragangliomas: An autosomal dominant disorder with genetic heterogeneity and genomic imprinting (1994) (0)
[Normal activity of hypoxanthine-guanine-phosphoribosyl transferase in adults with primary gout]. (1973) (0)
The 36th American Cytogenetics Conference (2000) (0)
MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p20B18 [D19S30]. (1989) (0)
horm one receptor gene (1995) (0)
Identification of candidate genes in patients with amyotrophic lateral sclerosis by breakpoint characterisation (2005) (0)
An EcoRV RFLP detected by probe pX59 [DXS77]. (1989) (0)
X-linked gene expression analysis in domestic cattle using human X chromosome-specific cDNA microarrays (2003) (0)
Subject index Vol. 40, 1985 (1985) (0)
Editorial help (2004) (0)
Mutation spectrum of the choroideremia gene and cloning of a highly homologous gene from chromosome 1 (1992) (0)
Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
Array CGH of ALS patients – new candidate genes (2006) (0)
{open_quotes}Unspecific{close_quotes} X-linked mental retardation: Clinical, genetic and molecular studies (1994) (0)
Brief Gene Mapping Reports A / B / C / D / E (2005) (0)
Adrenal insufficiency,myopathic hypotonia,severe psychomotor retardation,failure to thrive,fatty liver, megalocornea,chronic constipation and terminal bladder ectasia in 2 brothers (1979) (0)
Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies (1993) (0)
MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p30B18 [D19S31]. (1989) (0)
A Chromosome Breakpoint Mapping Strategy to Identify Candidate Genes for Nonsyndromic X-linked Mental Retardation within Xp11.2 (2003) (0)
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability (2020) (0)
Fetal Determinants of Adult Health (2002) (0)
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (2022) (0)
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (2021) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
Molecular elucidation of hereditary eye diseases: pivotal role of the clinician. (1997) (0)
Subject Index, Vol. 79, 1997 (1997) (0)
A note on the use of HGML LIT literature file numbers (1989) (0)
Report of a family affected with autism and non syndromic intellectual disability caused by a mutation in PTCHD1, an X-linked gene coding for a transmembrane protein expressed in postsynaptic dendritic spines (2013) (0)
Update on X-linked intellectual disability (2015) (0)
A Novel Phenotype: Microcephaly, Intellectual Disability, and Mid-hindbrain Defect (2014) (0)
Reply to Mandel. (2004) (0)
On the future of genetic risk assessment (2012) (0)
X-linked recessive ichthyosis and autosomal dominant ichthyosis segregating in the same family (1981) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
EcoRI RFLP at 19q13.1 identified by the anonymous DNA sequence p58B18 [D19S32]. (1989) (0)
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 (1994) (0)
Index by Abstract Number (1989) (0)
Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
University of Dundee BOD 1 Is Required for Cognitive Function in Humans and Drosophila (2016) (0)
Rare diseases: human genome research is coming home (2022) (0)
A Search for XY Homology (1984) (0)
Subject index Vol. 46, 1987 (1987) (0)
Molecular characterization of x linked deletions and duplications employing conventional southern analysis and long range restriction mapping (1987) (0)
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome (2013) (0)
[The formal genetics of 6-phosphogluconate dehydrogenase (EC:1.1.1.44); a study of 220 families]. (1969) (0)
Contents, Vol. 79, 1997 (1997) (0)

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