Xavier Estivill i Pallejà

Xavier Estivill i Pallejà's AcademicInfluence.com Rankings

Philosophy

#5179

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#7914

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Logic

#2499

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#3502

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philosophy Degrees

Xavier Estivill i Pallejà

Biology

#6921

World Rank

#9739

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Genetics

#653

World Rank

#737

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Molecular Biology

#753

World Rank

#770

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biology Degrees

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Xavier Estivill i Pallejà'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

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007) (5196)
Global variation in copy number in the human genome (2006) (4283)
International network of cancer genome projects (2010) (1839)
Transcriptome and genome sequencing uncovers functional variation in humans (2013) (1758)
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia (2011) (1488)
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia (2011) (993)
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 (2010) (947)
SNPassoc: an R package to perform whole genome association studies (2007) (727)
Non-coding recurrent mutations in chronic lymphocytic leukaemia (2015) (654)
Connexin-26 mutations in sporadic and inherited sensorineural deafness (1998) (652)
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. (1997) (629)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity (2012) (555)
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis (2009) (520)
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. (1998) (512)
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. (1998) (490)
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. (2000) (451)
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability (2007) (442)
Genetic Structure of Europeans: A View from the North–East (2009) (437)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus (2011) (428)
Brain-Derived Neurotrophic Factor Val66Met and Psychiatric Disorders: Meta-Analysis of Case-Control Studies Confirm Association to Substance-Related Disorders, Eating Disorders, and Schizophrenia (2007) (426)
Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study (1996) (422)
MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function. (2011) (420)
Identification of fifteen new psoriasis susceptibility loci highlights the role of innate immunity (2012) (397)
High carrier frequency of the 35delG deafness mutation in European populations (2000) (397)
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus (1999) (394)
Patterns of somatic structural variation in human cancer genomes (2020) (377)
Patterns of somatic structural variation in human cancer genomes (2020) (377)
Continuum of overlapping clones spanning the entire human chromosome 21q (1992) (376)
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. (2001) (370)
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. (2000) (354)
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine (1994) (344)
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands (1987) (331)
The origin of the major cystic fibrosis mutation (ΔF508) in European populations (1994) (321)
Differential Association of Circadian Genes with Mood Disorders: CRY1 and NPAS2 are Associated with Unipolar Major Depression and CLOCK and VIP with Bipolar Disorder (2010) (321)
BLUEPRINT to decode the epigenetic signature written in blood (2012) (320)
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (314)
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations (1997) (309)
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT (1999) (303)
Dyrk1A Haploinsufficiency Affects Viability and Causes Developmental Delay and Abnormal Brain Morphology in Mice (2002) (301)
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism (2012) (300)
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. (2003) (296)
A genome-wide association study of anorexia nervosa (2014) (284)
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases (2017) (275)
The Human Early-Life Exposome (HELIX): Project Rationale and Design (2013) (272)
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors (2018) (269)
A myriad of miRNA variants in control and Huntington’s disease brain regions detected by massively parallel sequencing (2010) (263)
Variants at APOE influence risk of deep and lobar intracerebral hemorrhage (2010) (256)
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories (2013) (254)
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence (2003) (250)
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. (1995) (247)
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. (2004) (244)
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. (2000) (242)
Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. (2004) (236)
Evidence for the biogenesis of more than 1,000 novel human microRNAs (2014) (234)
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron (2012) (232)
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 (1999) (222)
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes (2020) (220)
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. (2006) (220)
Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type (2003) (217)
Origin of primate orphan genes: a comparative genomics approach. (2008) (216)
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. (2001) (216)
Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. (1997) (215)
Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies (2007) (213)
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins (2000) (211)
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. (1996) (210)
Human Chromosome 7: DNA Sequence and Biology (2003) (208)
A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders (2001) (203)
Comprehensive molecular characterization of mitochondrial genomes in human cancers (2017) (197)
Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. (1997) (187)
Association of Irisin with Fat Mass, Resting Energy Expenditure, and Daily Activity in Conditions of Extreme Body Mass Index (2014) (184)
Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (1999) (180)
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (2020) (180)
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene (1999) (176)
SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells (2009) (175)
Genome assembly comparison identifies structural variants in the human genome (2006) (171)
Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 Are Associated with Panic Disorder and Regulate Several Anxiety Candidate Genes and Related Pathways (2011) (170)
Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling. (2009) (167)
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients (2003) (165)
Renaming the DSCR1 / Adapt78 gene family as RCAN: regulators of calcineurin (2007) (163)
Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB (2009) (157)
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. (1987) (157)
Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging. (1997) (153)
A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity (2012) (153)
Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia. (2010) (151)
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. (2002) (150)
Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility (2015) (149)
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. (1996) (148)
The origin of the major cystic fibrosis mutation (delta F508) in European populations. (1994) (148)
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (1995) (148)
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. (2003) (147)
Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment. (2003) (147)
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations (2005) (147)
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. (2003) (147)
Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. (1994) (145)
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). (2004) (140)
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. (2000) (140)
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. (2008) (140)
Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas (1995) (138)
Role of UEV-1, an Inactive Variant of the E2 UbiquitinConjugating Enzymes, in In Vitro Differentiation and Cell Cycle Behavior of HT-29-M6 Intestinal Mucosecretory Cells (1998) (138)
Mutations in DCHS1 Cause Mitral Valve Prolapse (2015) (137)
DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly (2003) (137)
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. (2001) (134)
Human Early Life Exposome (HELIX) study: a European population-based exposome cohort (2018) (132)
Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes. (1993) (132)
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases (1999) (129)
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe (2000) (129)
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (2020) (128)
On dendrites in Down syndrome and DS murine models: a spiny way to learn (2004) (127)
Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics (2018) (126)
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis (2015) (125)
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. (1995) (124)
Aneuploidy: from a physiological mechanism of variance to Down syndrome. (2009) (124)
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. (2001) (124)
Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred (1995) (124)
Common variants at 12q15 and 12q24 are associated with infant head circumference (2012) (121)
Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families (1997) (120)
Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications (2016) (118)
Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer (2001) (117)
Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system (2003) (116)
Genetic Variants of the FADS Gene Cluster and ELOVL Gene Family, Colostrums LC-PUFA Levels, Breastfeeding, and Child Cognition (2011) (114)
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. (2011) (113)
A novel common variant in DCST2 is associated with length in early life and height in adulthood (2014) (112)
Maximizing association statistics over genetic models (2008) (110)
DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood. (2012) (108)
Complexity in a monogenic disease (1996) (108)
CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. (1991) (107)
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. (1996) (107)
Candidate locus for a nuclear modifier gene for maternally inherited deafness. (2000) (106)
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. (1999) (105)
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. (2015) (105)
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons (2002) (103)
A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer’s amyloid precursor protein β-secretase (2000) (102)
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients (1996) (102)
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. (1995) (102)
Isolation of a human gene with protein sequence similarity to human and murine int‐1 and the Drosophila segment polarity mutant wingless. (1988) (102)
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. (2000) (100)
Association Study of 10 Genes Encoding Neurotrophic Factors and Their Receptors in Adult and Child Attention-Deficit/Hyperactivity Disorder (2008) (100)
A highly expressed miR-101 isomiR is a functional silencing small RNA (2013) (99)
Traffic-Related Air Pollution, Oxidative Stress Genes, and Asthma (ECHRS) (2009) (99)
Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene. (1995) (98)
The 5-HT2A −1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres (2001) (98)
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. (2000) (97)
Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins. (1994) (97)
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. (1993) (96)
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. (1997) (96)
Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non‐synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment (2009) (96)
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. (2002) (95)
RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration. (2007) (95)
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. (2002) (93)
Altered brain‐derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia (2007) (93)
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. (1997) (92)
LRRN6A/LERN1 (leucine‐rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex (2003) (91)
Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life. (2003) (89)
Dating the Origin of the CCR 5D 32 AIDS-Resistance Allele by the Coalescence of Haplotypes (2007) (88)
Intersectin 2, a new multimodular protein involved in clathrin‐mediated endocytosis (2000) (88)
Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. (2004) (88)
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia (2010) (87)
Assessment of the Neuropeptide S System in Anxiety Disorders (2010) (87)
SSCP analysis: A blind sensitivity trial (1997) (86)
Qualitative and quantitative changes in skeletal muscle mtDNA and expression of mitochondrial-encoded genes in the human aging process. (1997) (86)
Towards a European consensus for reporting incidental findings during clinical NGS testing (2015) (85)
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. (1996) (85)
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes (1997) (84)
Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells (2010) (84)
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron (2012) (84)
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? (2004) (82)
Connexin mutations in hearing loss, dermatological and neurological disorders. (2002) (82)
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. (1993) (81)
Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome (1999) (81)
Testicular CFTR splice variants in patients with congenital absence of the vas deferens. (1998) (80)
Multiplex PCR amplification of three microsatellites within the CFTR gene. (1992) (80)
Allele variants in functional MicroRNA target sites of the neurotrophin‐3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders (2009) (80)
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. (2010) (80)
Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction (2004) (79)
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. (1988) (79)
A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders (2008) (79)
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations (2001) (76)
Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (2010) (76)
Extensive Genotyping of the BDNF and NTRK2 Genes Define Protective Haplotypes Against Obsessive-Compulsive Disorder (2008) (75)
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome (2006) (74)
Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase gene (PFKFB3) (1999) (74)
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. (2006) (74)
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (2001) (74)
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. (1988) (73)
Copy Number Polymorphism of the Salivary Amylase Gene: Implications in Human Nutrition Research (2012) (73)
Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions (1999) (72)
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas (2001) (71)
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients (2002) (71)
Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome. (2016) (71)
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity (2012) (70)
Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease. (1997) (70)
Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases. (1999) (69)
Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women. (2010) (69)
Smell–taste dysfunctions in extreme weight/eating conditions: analysis of hormonal and psychological interactions (2016) (69)
Cancer: When catastrophe strikes a cell (2011) (68)
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing (2014) (68)
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity (2014) (68)
Gene–environment interaction in anorexia nervosa: relevance of non-shared environment and the serotonin transporter gene (2011) (67)
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI (2019) (67)
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome (2013) (67)
Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy. (2016) (66)
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected (1995) (66)
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss (2008) (66)
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation (2007) (66)
Gene expression signatures in breast cancer distinguish phenotype characteristics, histologic subtypes, and tumor invasiveness (2010) (66)
Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis (2000) (65)
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness (1999) (65)
Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, Harm avoidance and minimum body mass index (2005) (65)
Suicide attempts in bulimia nervosa: Personality and psychopathological correlates (2009) (65)
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 (2019) (65)
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. (2004) (65)
The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients with mild or no muscle dysfunction. (1996) (64)
PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks (2001) (64)
Missense mutations in the cystic fibrosis gene in adult patients with asthma (1999) (64)
Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry (2007) (64)
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation (2005) (63)
Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity. (2004) (63)
Case-Control Study of Six Genes Asymmetrically Expressed in the Two Cerebral Hemispheres: Association of BAIAP2 with Attention-Deficit/Hyperactivity Disorder (2009) (63)
Survey of 800+ data sets from human tissue and body fluid reveals xenomiRs are likely artifacts. (2017) (63)
Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease. (1996) (62)
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers (1996) (62)
CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia (1999) (62)
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. (1999) (62)
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication. (1997) (61)
Murine models for Down syndrome (2001) (61)
Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis (2001) (60)
ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE (1989) (60)
Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. (2001) (59)
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. (1994) (59)
The human intersectin genes and their spliced variants are differentially expressed. (2001) (59)
Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome. (2008) (59)
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. (1998) (58)
Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene (1997) (58)
A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS) (2009) (57)
Prenatal exposure to mixtures of xenoestrogens and repetitive element DNA methylation changes in human placenta. (2014) (57)
Experience with new DNA markers for the diagnosis of cystic fibrosis. (1988) (56)
Combined family trio and case‐control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa (2004) (56)
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals (2000) (56)
Additional support for the association of SLITRK1 var321 and Tourette syndrome (2010) (55)
Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system (2014) (55)
The human collagenase-3 (CLG3) gene is located on chromosome 11q22.3 clustered to other members of the matrix metalloproteinase gene family. (1995) (55)
Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups (2013) (55)
New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines (1994) (54)
Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels. (2016) (54)
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients (2009) (54)
Developmental analysis of Lingo‐1/Lern1 protein expression in the mouse brain: Interaction of its intracellular domain with Myt1l (2008) (54)
Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder. (2012) (53)
Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness (2001) (53)
The molecular basis of glutamate formiminotransferase deficiency (2003) (52)
Detection of unrecognized low‐level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations (2008) (50)
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations (2007) (50)
Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. (1995) (50)
Mutational analysis within the 3' region of the PKD1 gene. (1999) (50)
Transgenic mice overexpressing the full-length neurotrophin receptor TrkC exhibit increased catecholaminergic neuron density in specific brain areas and increased anxiety-like behavior and panic reaction (2006) (49)
Genetic susceptibility to obsessive‐compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 gene 1 (2008) (48)
High risk of lifetime history of suicide attempts among CYP2D6 ultrarapid metabolizers with eating disorders (2011) (48)
Joint effect of obesity and TNFA variability on asthma: two international cohort studies (2009) (48)
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro (2005) (48)
Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study Group. (2001) (48)
BDNF variability in opioid addicts and response to methadone treatment: preliminary findings (2008) (47)
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism (1996) (47)
Case-control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa. (2006) (47)
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. (1996) (47)
Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk (2018) (46)
Circulating Betatrophin Levels Are Increased in Anorexia and Decreased in Morbidly Obese Women. (2015) (46)
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene. (1993) (46)
Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder (2011) (46)
DNA methylation in neurodegenerative disorders: a missing link between genome and environment? (2011) (45)
A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome (2011) (45)
Retention of the CDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma (1998) (45)
GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS (1988) (45)
Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. (2000) (45)
Resequencing and association analysis of arylalkylamine N‐acetyltransferase (AANAT) gene and its contribution to major depression susceptibility (2010) (44)
HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression (2000) (44)
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. (2006) (44)
Contribution of the serotoninergic system to anxious and depressive traits that may be partially responsible for the phenotypical variability of bulimia nervosa. (2008) (44)
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR (2013) (44)
Neurobehavioral development of two mouse lines commonly used in transgenic studies (2002) (44)
A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression (2010) (44)
NGS‐Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine (2016) (44)
Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene. (1999) (43)
Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis. (2011) (43)
Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP. (1989) (42)
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene. (1994) (42)
VAL66MET BDNF GENOTYPES IN MELANCHOLIC DEPRESSION: EFFECTS ON BRAIN STRUCTURE AND TREATMENT OUTCOME (2013) (42)
Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study (2001) (42)
Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders. (2000) (41)
Blood Levels of Brain-Derived Neurotrophic Factor Correlate with Several Psychopathological Symptoms in Anorexia Nervosa Patients (2008) (41)
Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH. (1997) (41)
Sex differences in oncogenic mutational processes (2019) (41)
Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders. (2008) (41)
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing (2013) (40)
Splice‐site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome (1999) (40)
Fat Mass and Obesity-Associated Gene (FTO) in Eating Disorders: Evidence for Association of the rs9939609 Obesity Risk Allele with Bulimia nervosa and Anorexia nervosa (2012) (40)
Simultaneous on-line DNA sequencing on both strands with two fluorescent dyes. (1995) (39)
Storage conditions and stability of global DNA methylation in placental tissue. (2013) (39)
Upregulation of a small vault RNA (svtRNA2-1a) is an early event in Parkinson disease and induces neuronal dysfunction (2013) (39)
Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups (2009) (39)
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene (1992) (39)
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization (2006) (39)
PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis (2019) (39)
Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects (2012) (39)
Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders (2009) (38)
Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. (1993) (37)
miRTrace reveals the organismal origins of microRNA sequencing data (2018) (37)
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches (2019) (37)
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. (2006) (37)
Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease (2015) (37)
Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis? (2004) (37)
Retrovirus‐mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: Implications for gene therapy (2001) (36)
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment (2002) (36)
Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis. (2010) (36)
Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia (2016) (36)
Are MYO1C and MYO1F associated with hearing loss? (2009) (35)
Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area (1993) (35)
Cystic fibrosis in a low-incidence population: two major mutations in Finland (1994) (35)
HLA class II genes in soybean epidemic asthma patients. (1997) (35)
Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease (2010) (35)
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families. (1993) (35)
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency (1999) (35)
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 (2009) (35)
Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. (1992) (34)
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. (1996) (34)
High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (2020) (34)
Variation in the BDNF Val66Met polymorphism and response to cognitive-behavior therapy in obsessive-compulsive disorder (2012) (34)
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes (1994) (34)
PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation. (1990) (34)
Using ancestry-informative markers to identify fine structure across 15 populations of European origin (2014) (34)
Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. (2010) (33)
Candidate genes for panic disorder: insight from human and mouse genetic studies (2007) (33)
Independent Contribution of Common CFTR Variants to Chronic Pancreatitis (2010) (33)
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes (2017) (33)
A Brain-Derived Neurotrophic Factor Haplotype Is Associated with Therapeutic Response in Obsessive-Compulsive Disorder (2009) (33)
Genetic variations of the bitter taste receptor TAS2R38 are associated with obesity and impact on single immune traits. (2016) (33)
TNFA -308G>A in two international population-based cohorts and risk of asthma (2008) (33)
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation (1997) (33)
Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5 (2008) (33)
Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation. (1989) (32)
Analysis of the CFTR gene in the Spanish population: SSCP‐screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812‐1 G→A, and 3667de14) (1994) (32)
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation (1999) (32)
A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. (2016) (32)
Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis (2013) (32)
Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies. (1998) (32)
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility (2008) (31)
Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24→q26 and 19p13.3→p12 (2000) (31)
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene (1999) (31)
Influence of Glutathione S-Transferase Polymorphisms on Cognitive Functioning Effects Induced by p,p′-DDT among Preschoolers (2008) (31)
Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy (2007) (30)
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability (2007) (30)
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France (1996) (30)
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations (2020) (30)
Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome (2016) (30)
Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency (2000) (30)
Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. (2003) (30)
Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele. (1997) (29)
Contribution of the TTC21B gene to glomerular and cystic kidney diseases (2016) (29)
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness (2011) (29)
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea (2002) (29)
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene (1994) (29)
Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence (2014) (29)
Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE Consortium. (2016) (29)
CYP2D6 polymorphism in patients with eating disorders (2010) (29)
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene (1993) (28)
Association of Neurexin 3 polymorphisms with smoking behavior (2012) (28)
Relationship between genome and epigenome - challenges and requirements for future research (2014) (28)
Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson's disease revealed by deep sequencing analysis (2016) (28)
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. (2007) (28)
PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. (2001) (28)
The Circulating Transcriptome as a Source of Biomarkers for Melanoma (2018) (28)
MicroRNA expression profiling in blood from fragile X‐associated tremor/ataxia syndrome patients (2013) (28)
Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism (2009) (28)
Positionally cloned genes and age-specific effects in asthma and atopy: an international population-based cohort study (ECRHS) (2009) (28)
Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring. (2011) (28)
Correlation of BDNF blood levels with interoceptive awareness and maturity fears in anorexia and bulimia nervosa patients (2010) (27)
Human nuclear transcription factor gene CREM: Genomic organization, mutation screening, and association analysis in panic disorder (2003) (27)
Murine segmental duplications are hot spots for chromosome and gene evolution. (2005) (27)
GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers. (2009) (27)
Optimization of a simple and rapid single‐strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants (2000) (26)
ADRB2 Gly16Arg polymorphism, asthma control and lung function decline (2011) (26)
Characterization of a mouse model overexpressing beta‐site APP‐cleaving enzyme 2 reveals a new role for BACE2 (2010) (26)
Haplotype analysis to determine the position of a mutation among closely linked DNA markers. (1993) (25)
Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate. (2009) (25)
5′ UTR-region SNP in the NTRK3 gene is associated with panic disorder (2002) (25)
Homozygosity for the Protein S Heerlen Allele Is Associated with Type I PS Deficiency in a Thrombophilic Pedigree with Multiple Risk Factors (2000) (25)
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment (2001) (25)
Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues (2014) (25)
Accounting for uncertainty when assessing association between copy number and disease: a latent class model (2009) (24)
Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness (1995) (24)
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p (2004) (24)
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. (2001) (24)
PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data (2013) (24)
Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples (1995) (24)
Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model. (2008) (24)
Identification of a new frameshift mutation (1801delAG) in the ALD gene. (1994) (24)
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. (1993) (24)
Adenosine Triphosphate-Binding Cassette Superfamily Transporter Gene Expression in Severe Male Infertility1 (2001) (24)
CFTR and asthma in the French EGEA study (2001) (23)
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes. (1999) (23)
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia (2008) (23)
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein (2013) (23)
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families (1998) (23)
Complete detection of mutations in cystic fibrosis patients of Native American origin (1994) (23)
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families (2002) (22)
INDIRECT CYSTIC FIBROSIS CARRIER DETECTION (1987) (22)
Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b (2000) (22)
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (22)
The cystic fibrosis locus. (1987) (22)
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing (2016) (22)
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene (2000) (22)
Erratum: Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers (Human Mutation (1996) 8 (149-159)) (1996) (22)
Common variants at 12q15 and 12q24 are associated with infant head circumference (2013) (22)
Response to Methadone Maintenance Treatment is Associated with the MYOCD and GRM6 Genes (2010) (21)
Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G→A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency (1996) (21)
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences (1995) (21)
Interfamilial and intrafamilial variability of clinical expression in ADPKD. (1995) (21)
Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions. (1998) (21)
Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes (2014) (20)
Nucleotide variation in central nervous system genes among male suicide attempters (2009) (20)
A patient with autistic disorder and a 20/22 chromosomal translocation (1998) (20)
Mapping of the human Zn-α2-glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridization (1994) (20)
The interaction between Comt and Bdnf variants influences obsessive-compulsive-related dysfunctional beliefs. (2013) (20)
Mutation analysis in cystic fibrosis (II) (1990) (20)
Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study (2009) (20)
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene. (1994) (20)
Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies (2019) (20)
Dose and time effects of solar‐simulated ultraviolet radiation on the in vivo human skin transcriptome† (2019) (19)
Screening for the presence of FMR1 premutation alleles in women with fibromyalgia. (2013) (19)
A rapid method to identify cosmids containing rare restriction sites. (1987) (19)
Rare variants in the promoter of the fragile X syndrome gene (FMR1). (2000) (19)
Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis. (1997) (19)
Intratumoral activation of cyclophosphamide by retroviral transfer of the cytochrome P450 2B1 in a pancreatic tumor model. Combination with the HSVtk/GCV system (2002) (19)
Direct-to-consumer genetic testing for health-related purposes in the European Union (2012) (19)
Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. (1993) (19)
Cooperation to amplify gene-dosage-imbalance effects. (2006) (19)
Analysis of 14 cystic fibrosis mutations in five South European populations (1991) (19)
Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52 (1999) (18)
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA) (2008) (18)
CHRONIC T‐CELL LYMPHOCYTOSIS ASSOCIATED WITH PURE RED CELL APLASIA, THYMOMA AND HYPOGAMMAGLOBULINAEMIA (1985) (18)
Genomic structure and organization of the human rBAT gene (SLC3A1). (1996) (17)
Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation (1999) (17)
A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis. (1990) (17)
Non‐viral vector‐mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells (2002) (17)
Maternal transmission in sporadic Huntington's disease. (1997) (17)
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. (1996) (17)
Tying malaria and microRNAs: from the biology to future diagnostic perspectives (2016) (17)
[Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome]. (1999) (17)
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles (2007) (17)
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis‐like phenotypes (2014) (17)
Differential responses to anxiogenic drugs in a mouse model of panic disorder as revealed by Fos immunocytochemistry in specific areas of the fear circuitry (2007) (16)
In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children (2020) (16)
Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model. (2012) (16)
Development in a 46 XX Boy with Positive SRY Gene (1996) (16)
Cloning of S4D-SRCRB, a new soluble member of the group B scavenger receptor cysteine-rich family (SRCR-SF) mapping to human Chromosome 7q11.23 (2002) (16)
Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. (2001) (16)
Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency (1997) (16)
Allele balance bias identifies systematic genotyping errors and false disease associations (2018) (16)
Cystic fibrosis in Finland: a molecular and genealogical study (1989) (16)
SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII. (1991) (15)
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis (2019) (15)
Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease. (2010) (15)
Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis (2018) (15)
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics (2019) (15)
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes (2021) (15)
Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog. (2001) (15)
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome (1996) (15)
Interaction of SLC1A1 gene variants and life stress on pharmacological resistance in obsessive–compulsive disorder (2012) (15)
Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles (1991) (15)
R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? (2001) (15)
Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes (2017) (14)
Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta. (2016) (14)
Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21. (1993) (14)
Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia. (1999) (14)
Additional Complexity on Human Chromosome 15 q : Identification of a Set of Newly Recognized Duplicons ( LCR 15 ) on 15 q 11 – q 13 , 15 q 24 , and 15 q 26 (2001) (14)
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients (1997) (14)
A tetranucleotide repeat polymorphism in the cystic fibrosis gene (1991) (14)
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion (1996) (14)
Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11. (1986) (14)
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations. (1994) (14)
Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation. (2000) (14)
PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION (1996) (14)
Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families (1994) (14)
Geographic distribution and origin of CFTR mutations in Germany (1996) (13)
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations (2020) (13)
Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases (2013) (13)
Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa (2017) (13)
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1. (1999) (13)
Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution (2016) (13)
Influence of fetal glutathione S‐transferase copy number variants on adverse reproductive outcomes (2012) (13)
PALML, a novel paralemmin-related gene mapping on human chromosome 1p21. (2001) (13)
Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus. (2019) (12)
Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes. (1998) (12)
Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). (1994) (12)
Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis (2013) (12)
Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria (1998) (12)
Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders (2013) (12)
Cosmid contig and transcriptional map of three regions of human chromosome 21q22: identification of 37 novel transcripts by direct selection. (1997) (12)
Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis. (1996) (12)
Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. (1987) (12)
Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients (1992) (12)
Vestibular and hearing loss in genetic and metabolic disorders. (1999) (12)
Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families. (1991) (12)
Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes. (2010) (12)
Genes as causes: scientific fact or simplistic thinking? (2000) (12)
Functional genomics of Down syndrome: a multidisciplinary approach. (2001) (12)
Switching to zebrafish neurobehavioral models: The obsessive-compulsive disorder paradigm. (2015) (12)
Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene (1994) (11)
Protein C deficiency: Identification of a novel two‐base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families (1992) (11)
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization (1995) (11)
Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases (2000) (11)
Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. (2015) (11)
Severe Type I Protein C Deficiency in a Compound Heterozygote for Y124C and Q132X Mutations in Exon 6 of the PROC Gene (1995) (11)
Rapid fetal karyotype from cystic hygroma and pleural effusions (1995) (11)
ATB0/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis (2001) (11)
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene (2007) (11)
A population study of clinically actionable genetic variation affecting drug response from the Middle East (2022) (11)
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea. (2002) (11)
The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. (1990) (11)
The acute effects of ultraviolet radiation on the blood transcriptome are independent of plasma 25OHD3 (2017) (11)
Delta F508 gene deletion in cystic fibrosis in southern Europe [letter] (1989) (11)
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis (1998) (11)
Prenatal diagnosis of sporadic neurofibromatosis 1 (1992) (10)
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations (1997) (10)
Characterization of the segmental duplication LCR7-20 in the human genome. (2004) (10)
Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA (1997) (10)
[Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases]. (1995) (10)
P0343 - Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders (2008) (10)
Variability of multi-omics profiles in a population-based child cohort (2021) (10)
Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting thePMP22 gene (2000) (10)
Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor‐suppressor (2007) (10)
Human Molecular Genetics, 3rd edition, by Tom Strachan, Andrew Read. Garland Science, ISBN 0-8153-4184-9, paperback (2005) (10)
Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster. (1998) (10)
[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland]. (2000) (10)
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1 (1991) (10)
Association study of proposed candidate genes/regions in a population of Spanish asthmatics (2004) (10)
Linkage of DNA probe B79a (D7S13) to cystic fibrosis. (1987) (9)
ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment (2014) (9)
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (2004) (9)
Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis. (1992) (9)
Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations. (2019) (9)
Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation (1995) (9)
Multi-omics signatures of the human early life exposome (2021) (9)
Actionable genomic variants in 6045 participants from the Qatar Genome Program (2021) (9)
High conservation of sequences involved in cystic fibrosis mutations in five mammalian species. (1991) (9)
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients (1997) (8)
Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1→qter duplication (2001) (8)
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas (2020) (8)
Ectopic Transcript Analysis Indicates that Allelic Exclusion is an Important Cause of Type I Protein C Deficiency in Patients with Nonsense and Frameshift Mutations in the PROC Gene (1996) (8)
Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene. (1993) (8)
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation. (1992) (8)
Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. (2001) (8)
Cell type specific novel lincRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas (2019) (8)
A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis (2015) (8)
Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds. (2008) (8)
Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis. (1987) (8)
Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder (2020) (8)
Δ F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families (1990) (8)
A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family (2006) (8)
Single-strand conformation polymorphism analysis in the FMR1 gene. (1999) (7)
The molecular basis of cystinuria: the role of the rBAT gene (1996) (7)
Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region. (1999) (7)
Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13) (1986) (7)
Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype (2000) (7)
Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer. (2000) (7)
Genome-wide association study identifies new locus associated with OCD (2021) (7)
ProSeeK: A web server for MLPA probe design (2008) (7)
Mapping of the human Zn-alpha 2-glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridization. (1994) (7)
Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers (1995) (7)
Aberrant RNA splicing of the protein C and protein S genes in healthy individuals. (1996) (7)
Publisher Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (2020) (6)
Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes (2001) (6)
Integration of 30 CA-Repeat Markers into the Cytogenetic, Genetic and YAC Maps of Human Chromosome 21 (1996) (6)
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness (2006) (6)
SNPs Meet CNVs in Genome-Wide Association Studies: HGV2007 Meeting Report (2008) (6)
Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (1997) (6)
Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency (1990) (6)
Geolocalisation of athletes for out-of-competition drug testing: ethical considerations. Position statement by the WADA Ethics Panel (2018) (6)
Genotipado a gran escala en la investigación del trastorno del espectro autista y el trastorno por déficit de atención con hiperactividad (2005) (6)
Suitability of oligonucleotide‐mediated cystic fibrosis gene repair in airway epithelial cells (2003) (6)
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization (1996) (6)
Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin. (1999) (6)
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. (1998) (6)
Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study. (1990) (6)
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (2020) (6)
Identification and Expression Analysis of C3orf1, a Novel Human Gene Homologous to the Drosophila RP140—Upstream Gene (2000) (6)
Plasmatic and Urinary Protein C Levels in Nephrotic Syndrome (1985) (6)
Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene (1996) (5)
Genetic variation and alternative splicing (2015) (5)
Identification of blood autosomal cis-expression quantitative trait methylation (cis-eQTMs) in children (2020) (5)
Human genetics moves from clinic to bench - and back (2005) (5)
The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence (1995) (5)
[Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis]. (1997) (5)
[Acquired factor X deficiency in primary amyloidosis]. (1984) (5)
Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes (1992) (5)
The EUROGEM map of human chromosome 21. (1994) (5)
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. (1999) (5)
The human HERC3 gene maps1 to chromosome 4q21 by fluorescence in situ hybridization (2000) (5)
The emerging role of structural variations in common disorders: initial findings and discovery challenges (2009) (5)
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes (2001) (5)
Reply to — Age of the ΔF508 cystic fibrosis mutation (1994) (5)
Prenatal diagnosis of werdnig‐hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers (1994) (4)
Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity (2017) (4)
Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype. (2000) (4)
Positive selection and gene conversion drive the evolution of a brain-expressed snoRNAs cluster. (2009) (4)
The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome (2021) (4)
Genomic organization of TUPLEl/HIRA: a gene implicated in DiGeorge syndrome (1996) (4)
Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate (1990) (4)
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation (2020) (4)
Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children’s blood (2022) (4)
Genome sequencing data analysis for rare disease gene discovery (2021) (4)
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations (1989) (4)
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. (1994) (4)
Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families (1994) (4)
Mitochondrial DNA LHON mutations in alcoholic patients developing amblyopia (1999) (3)
A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (1992) (3)
ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis. (1990) (3)
[The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A]. (1996) (3)
[Thymoma associated with erythroblastopenia and hypogammaglobulinemia with an increase in the T8+ lymphocyte subpopulation]. (1984) (3)
Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome (2003) (3)
Common Genetic Variation and Age of Onset of Anorexia Nervosa (2021) (3)
Maternal genome-wide association study identifies a fasting glucose variant associated with offspring birth weight (2015) (3)
[Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder]. (2005) (3)
Rearrangement of the c-myc oncogene with heavy-chain immunoglobulin enhancer in tumor DNA from an acute lymphoblastic leukemia patient. (1987) (3)
Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families (1990) (3)
Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235). (1993) (3)
Recurrence of the PROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients (1996) (3)
Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency. (1994) (3)
Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients (1997) (3)
Mutations and intragenic polymorphisms in the diagnosis of autosomal dominant polycystic kidney disease type 1. (1997) (3)
Explorer Dyrk 1 A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice (2017) (3)
Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation (2018) (3)
Year : 2008 TNFA-308 G > A in two international population-based cohorts and risk of asthma (2009) (2)
Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin. (2006) (2)
Subject Index, Vol. 77, 1997 (1997) (2)
Two novel mutations in the WASP gene in Wiskott‐Aldrich patients of Chile origin: W64R and A124E (2000) (2)
Caracterització molecular de la FQ a la població espanyola Cystic fibrosis in the basque country: high frequency of mutation F508 in patients of basque origin (2005) (2)
The application of molecular genetics to the study of the basic defect causing cystic fibrosis. (1987) (2)
Hypertension in polycystic kidney disease type 1 and 2 and its effect on the age of onset of end-stage renal disease. (1997) (2)
Genetic analysis of cystic fibrosis. (1991) (2)
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk (2023) (2)
Susumu Ohno left us January 13, 2000, at the age of 71 (2000) (2)
Erratum to: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases (1999) (2)
[Reactive arthritis in the course of Q fever]. (1983) (2)
P0339 - Suicide attempts in bulimia nervosa: Personality, Psychopathological and Genetic correlates (2008) (2)
[Immune thrombocytopenic purpura secondary to varicella in an adult. Presentation of a case and review]. (1983) (2)
Cloning, Mapping and Expression Analysis of C15 or f4, a Novel Human Gene with Homology to the Yeast Mitochondrial Ribosomal Protein Yml30 Gene (2001) (2)
Identification and expression analysis of C15orf3, a novel gene on chromosome 15q21.1→q21.2 (2000) (2)
Molecular Approaches to identify the cystic fibrosis gene defect (1987) (2)
Genomic organization of TUPLE1/HIRA: Alternative splice products of the same gene (1996) (2)
[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]. (1998) (2)
Correction: Genetic Structure of Europeans: A View from the North–East (2010) (2)
Deletion of the LCE3B and LCE3C Genes on 1q21 is not Associated with Atopic Dermatitis (2009) (1)
Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population (2005) (1)
[Spontaneous retroperitoneal hemorrhage and anticoagulant treatment: presentation of 4 cases and review of the literature]. (1984) (1)
Authors' reply: How is causal interference practised in the biological sciences? (2000) (1)
Tools of gene transfer in organ transplantation. (1999) (1)
Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus (1988) (1)
[Polyarthritis and exanthema in Gardnerella vaginalis vulvovaginitis]. (1984) (1)
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes]. (2000) (1)
Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency (1993) (1)
[Genotype study of T receptors in the diagnosis and classification of leukemias and lymphomas]. (1988) (1)
Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations (1991) (1)
Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2). (1996) (1)
Patterns of haplotypes for 92 cystic fibrosis mutations: Variability, association and recurrence (1994) (1)
Bayesian inference of cancer driver genes using signatures of positive selection (2017) (1)
Chapter 22: Molecular Basis of Deafness due to Mutations in the Connexin26 Gene (GJB2) (1999) (1)
P.2.g.008 Mapping structural impact of Val66Met BDNF genotype in melancholic depression: influence on time to clinical remission (2011) (1)
Correction to article in Vol 86:252–258 (1999) (2000) (1)
Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families. (1990) (1)
Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics (2017) (1)
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein (2013) (1)
Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders (2013) (1)
Quantitative Assessment of Chimeraplast Stability in Biological Fluids by Polyacrylamide Gel Electrophoresis and Laser-Assisted Fluorescence Analysis (2002) (1)
Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus (1989) (1)
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene (1995) (1)
A highly expressed miR-101 isomiR is a functional silencing small RNA (2013) (1)
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (2020) (1)
Relationship between genome and epigenome - challenges and requirements for future research (2014) (1)
[Use of the polymerase chain reaction technic in the genetic analysis of cystic fibrosis]. (1990) (1)
OP0067 Cluster analysis of clinical data identifies fibromyalgia subgroups (2013) (1)
Molecular genetics and the basic defect causing cystic fibrosis. (1986) (1)
Maternal transmission insporadic Huntington's disease (1997) (1)
Evidence for the biogenesis of more than 1,000 novel human microRNAs (2014) (1)
Errors congènits del metabolisme (ECM). (2000) (1)
Subject Index Vol. 90, 2000 (2000) (1)
Cystic fibrosis mutation delta F508 in Finland: other mutations predominate. (1990) (1)
Whole-genome sequencing identifies recurrent mutations in chronic lymphocyticleukaemia (2011) (1)
[Thymoma and pure red-cell aplasia. Immunologic study of 3 cases]. (1985) (1)
A polymorphic DNA probe from chromosome 7 (7q22). (1990) (1)
[High-doses BCNU in diseases of the central nervous system caused by myeloma]. (1985) (1)
Author Correction: Pan-cancer analysis of whole genomes (2023) (1)
450K genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal tobacco smoking: implications for birth weight (2016) (0)
[Pelvic lipomatosis and thrombosis of the inferior vena cava. Presentation of a case and review of the literature]. (1985) (0)
3 CFTR gene direct sequencing versus scanning techniques. Improving the sensitivity to identify CF mutations (2012) (0)
[Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers]. (1989) (0)
The EUROGEM map of human chromosome 12. (1993) (0)
Isolation and mapping of a polymorphic DNA sequence pXH3 on chromosome X [DXS235]. (1988) (0)
Confirmation ofa Double-Hit ModelfortheNF1GeneinBenign Neurofibromas (1997) (0)
A rapid method toidentify cosmids containing rarerestriction sites (1987) (0)
Indoor Air Pollution and Cognitive Functioning in Children Effect Modifier of GSTP1 Gene (2008) (0)
Contents Vol. 89, 2000 (2000) (0)
INTERNATIONAL BEHAVIOURAL AND NEURAL GENETICS SOCIETY KNOCKOUTS & MUTANTS II: Genetically Dissecting Brain and Behavior (2007) (0)
Hipermineralcorticismo mixto: hepatopatía y ácido glucirricínico. (1983) (0)
Implementation of a New Genetic Screening Test for of Genetic Recessive Diseases in a Program of Oocyte Donation (2016) (0)
Antidepressant treatment response of postpartum depression: Clinical and genetic factors (2007) (0)
S64CHANGES IN THE STOOL AND OROPHARYNGEAL MICROBIOME IN OBSESSIVE-COMPULSIVE DISORDER (2019) (0)
PERFORMING ANALYSIS OF ANUCLEC ACID SAMPLE (2017) (0)
Arg/Arg homozygous for the Gly16Arg polymorphism in ADRB2 have a reduced response to short acting β2-agonists but no effect has been associated with long-acting β2-agonists (LABA) (2011) (0)
Contents Vol. 123, 2008 (2009) (0)
GENETIC EVALUATION OF CARDIOMYOPATHIES IN QATAR IDENTIFIES NOVEL SARCOMERE GENE VARIANTS AND FOUNDER ARABIC MUTATIONS FOR THE DISEASE (2020) (0)
A new protocol to type the Ts65Dn mouse model for Down syndrome by FISH in newborn or embryo tissue imprints (1999) (0)
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
Author Correction: Inferring structural variant cancer cell fraction (2022) (0)
Incidence of CDKN2A mutations in melanoma families: Inherited susceptibility to several cancers but not always association with dysplastic nevus syndrome (1998) (0)
[Non-alcoholic steatohepatitis associated with malnutrition]. (1984) (0)
pathway in eating disorders (2008) (0)
Human genetics branches out in Barcelona (2008) (0)
miRTrace reveals the organismal origins of microRNA sequencing data (2018) (0)
Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (0)
The molecular basis of glutamate formiminotransferase deficiency (2003) (0)
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease (2020) (0)
Exposure To Ultraviolet Radiation B Has An Acute Effect On Gene Expression In Blood (2015) (0)
Determination of the Spectrum of P-Thalassemia Genes in Spain by Use of Dot-Blot Analysis of Amplified P-Globin DNA (2006) (0)
THE USE OF OLIGONUCLEOTIDES AS PROBES TO IDENTIFY RARE CUTTER RESTRICTION SITES (1987) (0)
Contents Vol. 90, 2000 (2000) (0)
Genetic diseases and molecular genetics (2013) (0)
A Novel Donor Splice Site in Intron I I of the CFTR Gene, Created by Mutation (2007) (0)
Author ' s personal copy D 184 E MUTATION IN AQUAPORIN-4 GENE IMPAIRS WATER PERMEABILITY AND LINKS TO DEAFNESS (2011) (0)
FurtherDataSupporting LinkagebetweenCystic Fibrosis andthemetOncogene andHaplotype Analysis withmetandpJ3.11 (1986) (0)
Prenatal exposure to xenoestrogens and placental DNA methylation of repetitive elements. (2013) (0)
Towards an integrated chromosome 21 map: progress of the European chromosome 21 consortium. (1996) (0)
Revised guidelines for authors of gene mapping reports (2000) (0)
Usefulness of Ultrasound in Jaccoud ’ s Arthropathy (2017) (0)
Subject Index Vol. 87, 1999 (2000) (0)
1 The circulating transcriptome as a source of 2 biomarkers for melanoma 3 (2018) (0)
A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene (1995) (0)
PRENATAL DIAGNOSIS IN CYSTIC FIBROSIS (1985) (0)
Abstract 18977: Non-Syndromic Mitral Valve Prolapse From Gene Mutations to Modifiable Mechanisms (2014) (0)
Abdominal Aortic Aneurysms and Autosomal Dominant Polycystic Kidney Disease 1 (2005) (0)
Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data (2013) (0)
O15: Identification of large-scale human-specific copy number variations by array comparative genomic hybridization (2005) (0)
Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide (2007) (0)
Progress towards identification of the gene defect in cystic fibrosis (1987) (0)
Genetic engineering approaches for organ transplantation. (1999) (0)
Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism (2010) (0)
A combined population and family-based study of eight European populations demonstrates association between BDNF and eating disorders. (2003) (0)
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients (2022) (0)
[The acquired immunodeficiency syndrome. A dynamic clinico-biological situation]. (1983) (0)
[The human genome project: reality and hope]. (1993) (0)
MIRNA DEREGULATION AND NEURONAL DYSFUNCTION IN PARKINSON'S DISEASE (2011) (0)
FURTHER LINKAGE DISEQUILIBRIUM DATA FOR CYSTIC-FIBROSIS (1987) (0)
TéCnICAS DE REFLExIón ESTRATéGICA: SEarCh COnfErEnCE MOMEntuM (2011) (0)
Contents, Vol. 66, 1994 (1994) (0)
[DNA amplification and its application in medicine]. (1991) (0)
Translocation of the c-myc oncogene 3′ to the immunoglobin heavy chain enhancer in the tumor DNA from a Burkitt lymphoma (1986) (0)
[Malignant histiocytosis: what role do infections play in its appearance?]. (1983) (0)
Author Correction: Patterns of somatic structural variation in human cancer genomes (2020) (0)
Author Correction: Patterns of somatic structural variation in human cancer genomes (2020) (0)
The serotonin receptor 3E variant is a risk factor for female IBS-D (2022) (0)
[An analysis of 6 Leber mutations in 31 individuals with optic atrophy. A study of its transmission in 5 families]. (1999) (0)
A cluster ofcystic fibrosis mutations inexon 17boftheCFTR gene:a site forrare (1994) (0)
Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1 (1995) (0)
Physical andgenetic analysis ofcosmids fromthevicinity ofthecystic fibrosis locus (1987) (0)
P6: Detection of pathologic and polymorphic cryptic chromosomal imbalances by array-CGH using a BAC-array targeting regions between segmental duplications (2005) (0)
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP (2022) (0)
The genetic basis of cystinuria (1997) (0)
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis (2019) (0)
Pregnancy and the epigenome (2016) (0)
[Analysis of psoriasis susceptibility regions in the Spanish population: evidence of a major gene involved in psoriasis in the 6p21 region]. (2001) (0)
mp2010125x1 - tables - supplement (2014) (0)
Multilocus Genetic Profile for Glutamatergic Pathway and Frontostriatal Connectivity in Obsessive-compulsive Disorder (2015) (0)
Contents Continued (2001) (0)
[Human genetics: diagnostic and preventive impact of new genetics in medicine]. (1992) (0)
Implementation of an expanded carrier screening test for recessive genetic disorders in a donor intrauterine insemination program (2017) (0)
ase-Control Study of Six Genes Asymmetrically xpressed in the Two Cerebral Hemispheres : ssociation of BAIAP 2 with Attention-Deficit / yperactivity Disorder (0)
[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency]. (1992) (0)
MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene. (1991) (0)
A functional SNP of the serotonin transporter gene promoter is associated with IBS (2017) (0)
Structural variants and susceptibility to common human disorders (2009) (0)
When catastrophe strikes a cell In 2-3% of cancers, a single genetic event may lead to hundreds of genomic rearrangements confined to just one or a few chromosomes. This finding challenges the conventional view of how mutations accumulate in oncogenesis. (2011) (0)
EPIGENETIC PROGRAMMING OF ASTHMA BY IN UTERO EXPOSURE TO p,p'-DDE (2011) (0)
Analysis of microsatellites markers for linkage studies of genetic deafness (1997) (0)
[Hemorrhagic diathesis associated with high doses of beta-lactam antibiotics: presentation of 3 cases]. (1986) (0)
xtensive Genotyping of the BDNF and NTRK 2 enes Define Protective Haplotypes Against bsessive-Compulsive Disorder (2008) (0)
Subject Index Vol. 88, 2000 (2000) (0)
Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects (2011) (0)
Genome Variation Influencing Gene Copy Number and Disease (2005) (0)
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs (2021) (0)
Contents Vol. 88, 2000 (2000) (0)
P-808 - the Interaction Between Comt and Bdnf Variants Influences Obsessive-compulsive-related Dysfunctional Beliefs (2012) (0)
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits (2021) (0)
[Mixed hypermineralocorticoidism: hepatopathy and glycyrrhizinic acid]. (1983) (0)
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (0)
Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3 (1995) (0)
[Thymoma and associated immunologic changes: T lymphocytes and the regulation of hematopoiesis]. (1985) (0)
Further linkage disequilibrium data at the cystic fibrosis locus (1988) (0)
[Spontaneous retroperitoneal hemorrhage and anticoagulation]. (1984) (0)
太阳紫外线辐射如何影响皮肤基因的研究 (2020) (0)
Five new microsatellite polymorphisms at the q21 region of human chromosome 21 (2004) (0)
Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21 (1994) (0)
A population study of clinically actionable genetic variation affecting drug response from the Middle East (2022) (0)
Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
Contents Vol. 56, 2007 (2008) (0)
OP-071 Mutations in ARHGAP24 Encoding Filgap as a Cause of Mitral Valve Prolapse (2015) (0)
Subject Index Vol. 89, 2000 (2000) (0)
Contents Vol. 87, 1999 (2000) (0)
fibrosis . to the clinical course of cystic DNA marker , MP 6 d-9 , is related The genotype of a new linked and (2004) (0)
0077 : DOCK1 a new candidate gene in inherited form of mitral valve prolapse (2015) (0)
THU0012 Observing Dysregulation of Signal Transduction Genes in the WNT Pathway Using two Methods (2015) (0)
Reproducible mRNA and small RNA sequencing across different laboratories (2013) (0)
mp2010125x2 - 26 papges text file - supplement (2014) (0)
2 New insights in CF molecular diagnostics applying the next generation sequencing technologies (2013) (0)
Author Correction: The evolutionary history of 2,658 cancers (2023) (0)
The stepping stone approach towards the Genetics Clinic of the Future (2014) (0)
[Study of the segregation pattern of the genes responsible for hemophilia A]. (1986) (0)
Neurodegeneration profile in a mouse model overexpressing Dyrk1A (2003) (0)
9p deletions are a useful prognostic factor in cutaneous malignant melanoma evolution: 470 (1997) (0)
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 (2019) (0)
Subject Index Vol. 56, 2007 (2008) (0)
Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes (2017) (0)
A study into how ultraviolet radiation from the sun effects genes in the skin (2020) (0)
Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21. (2001) (0)
Molecular Genetics: An Approach Towards the Basic Defect Causing Cystic Fibrosis (1987) (0)
[Progress in the analysis of cystic fibrosis: prenatal diagnosis and carrier detection]. (1989) (0)
Genetic characteristics of rheumatic patients developing inflammatory skin lesions induced by biologic therapy. (2015) (0)
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors (2019) (0)
Contents continued (2002) (0)
Copy number variants: a common mechanism in complex diseases (2008) (0)
Tying malaria and microRNAs: from the biology to future diagnostic perspectives (2016) (0)

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