| Adult Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation | Kidney medicine |  | | 2025 | 26 | 89 |
|
| Resilience in Alzheimer's disease: Impact of operationalization and methodological choices | Alzheimer's & dementia | | | 2025 | 137 | 418 |
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| Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection | Frontiers in medicine | | | 2024 | 122 | 192 |
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| Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR | Clinical and experimental allergy |  | | 2024 | 116 | 0 |
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| Atypical familial diabetes associated with a novel NEUROD1 nonsense variant | Journal of pediatric endocrinology and metabolism | | | 2023 | 20 | 46 |
|
| Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant | Communications biology | | | 2023 | 110 | 115 |
|
| Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report | BMC endocrine disorders | | | 2023 | 76 | 219 |
|
| A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers | Alzheimer's research & therapy | | | 2023 | 87 | 131 |
|
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 205 | 227 |
|
| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | | 2023 | 106 | 105 |
|
| Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity | Scientific reports | | | 2022 | 239 | 280 |
|
| Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes | BMJ open diabetes research and care | | | 2022 | 123 | 122 |
|
| Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations | Journal of diabetes investigation | | | 2021 | 93 | 420 |
|
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | | 2021 | 386 | 593 |
|
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 176 | 126 |
|
| Systematic genetic study of diabetic youth in a single country reveals the prevalence of diabetes subtypes, novel candidate genes, and response to precision therapy | Diabetes | | | 2020 | 441 | 722 |
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| Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes | | | 2019 | 375 | 3 |
|
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | | 2018 | 599 | 2 |
|
| Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes | Hormone Research in Paediatrics | | | 2018 | 569 | 1 |
|
| Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother | Journal of Human Genetics | | | 2018 | 470 | 606 |
|
| Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors | The Journal of Pathology | | | 2017 | 691 | 2 |
|
| Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel | Swiss Medical Weekly | | | 2017 | 530 | 264 |
|
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 756 | 371 |
|
| Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy | Pediatric diabetes | | | 2015 | 1,149 | 1 |
|
| Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant | Hormone research in paediatrics | | | 2015 | 583 | 2 |
|
| Next generation diagnostics on cardiomyopathy | Molecular cytogenetics | | | 2014 | 689 | 228 |
|
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | | 2014 | 759 | 0 |
|
| Multiple mantleomas: an unusual clinical presentation of an intriguing tumour | British journal of dermatology | | | 2014 | 493 | 0 |
|
| Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia | American journal of human genetics | | | 2013 | 597 | 0 |
|
| Dissecting genetics of highly heterogeneous mendelian disorders: the example of Primary Ciliary Dyskinesia | | | | 2011 | 1,378 | 544 |
|
| Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice | Journal of medical genetics | | | 2011 | 686 | 0 |
|
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations | Human mutation | | | 2008 | 751 | 0 |
|
| Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity | Molecular cytogenetics | | | 2008 | 721 | 938 |
|
| A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy | Human mutation | | | 2008 | 768 | 0 |
|
| Candidate gene analysis in three families with acilia syndrome | American journal of medical genetics. Part A | | | 2008 | 641 | 0 |
|
| Genetic variability of the mu-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women | Pain | | | 2008 | 640 | 744 |
|
| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | | 2008 | 744 | 4 |
|
| DNAI1 mutations explain only 2% of primary ciliary dykinesia | Respiration | | | 2008 | 843 | 510 |
|
| Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease | Human mutation | | | 2007 | 678 | 0 |
|
| Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report | Journal of neurosurgery | | | 2007 | 625 | 0 |
|
| DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects | American journal of respiratory and critical care medicine | | | 2006 | 705 | 0 |
|
| Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region | American journal of medical genetics. Part A | | | 2006 | 726 | 0 |
|
| Double frameshift mutations in APC and MSH2 in the same individual | International journal of colorectal disease | | | 2005 | 849 | 1 |
|
| L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique | Revue médicale suisse | | | 2005 | 587 | 1 |
|
| Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor | Clinical pharmacology and therapeutics | | | 2005 | 646 | 0 |
|
| A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q | Annals of neurology | | | 2004 | 649 | 0 |
|
| Genetic variability of mu-opioid receptor in an obstetric population | Anesthesiology | | | 2004 | 495 | 0 |
|
| Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder | American journal of human genetics | | | 2003 | 673 | 4 |
|
| Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers | American journal of medical genetics. Part B, Neuropsychiatric genetics | | | 2003 | 576 | 1 |
|
| Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum | American journal of medical genetics. Part A | | | 2003 | 780 | 0 |
|
| FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients | American journal of medical genetics. Part A | | | 2003 | 762 | 0 |
|
| Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia | American journal of human genetics | | | 2003 | 582 | 1 |
|
| A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 | Human molecular genetics | | | 2003 | 675 | 0 |
|
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia | Proceedings of the National Academy of Sciences of the United States of America | | | 2002 | 681 | 0 |
|
| Prise en charge multidisciplinaire du cancer colorectal héréditaire | Swiss surgery | | | 2001 | 880 | 0 |
|
| An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree | European journal of human genetics | | | 2001 | 704 | 0 |
|
| Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia | Genomics | | | 2001 | 654 | 1 |
|
| No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) | Cytogenetics and cell genetics | | | 2000 | 689 | 0 |
|
| Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III | American journal of human genetics | | | 2000 | 641 | 0 |
|
| Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes | Molecular psychiatry | | | 2000 | 663 | 0 |
|
| Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity | European journal of human genetics | | | 2000 | 657 | 0 |
|
| Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21 | American journal of medical genetics | | | 1999 | 638 | 0 |
|
| No evidence for linkage between schizophrenia and markers at chromosome 15q13-14 | American journal of medical genetics | | | 1999 | 477 | 0 |
|
| The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations | American journal of human genetics | | | 1999 | 623 | 0 |
|
| Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping | Cytogenetics and cell genetics | | | 1999 | 623 | 1 |
|
| Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome | Genomics | | | 1998 | 591 | 0 |
|
| Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci | The Journal of clinical endocrinology and metabolism | | | 1998 | 647 | 0 |
|
| Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 | Nature genetics | | | 1998 | 592 | 0 |
|
| Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity | American journal of human genetics | | | 1998 | 590 | 0 |
|
| Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 | Genomics | | | 1998 | 600 | 0 |
|
| Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 | Human genetics | | | 1998 | 560 | 0 |
|
| Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 | American journal of human genetics | | | 1997 | 537 | 0 |
|
| A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years | Acta neuropathologica | | | 1997 | 687 | 0 |
|
| Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis | American journal of human genetics | | | 1997 | 601 | 0 |
|
| The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103 | American journal of human genetics | | | 1997 | 608 | 0 |
|
| The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region | American journal of medical genetics | | | 1997 | 637 | 0 |
|
| Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22 | Annales de génétique | | | 1996 | 610 | 0 |
|
| YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome | Human genetics | | | 1996 | 702 | 0 |
|
| The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene | Cytogenetics and cell genetics | | | 1996 | 612 | 0 |
|
| The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes | Cold Spring Harbor Symposia on Quantitative Biology | | | 1996 | 446 | 0 |
|
| An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 | American journal of medical genetics | | | 1996 | 703 | 0 |
|
| Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21 | Genomics | | | 1996 | 557 | 0 |
|
| Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia | American journal of medical genetics | | | 1995 | 671 | 0 |
|
| A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination | American journal of human genetics | | | 1995 | 552 | 0 |
|
| Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 | Genomics | | | 1995 | 555 | 0 |
|
| Schizophrenia susceptibility and chromosome 6p24-22 | Nature genetics | | | 1995 | 548 | 0 |
|
| Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis | American journal of human genetics | | | 1994 | 579 | 0 |
|
| Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically | American journal of medical genetics | | | 1994 | 591 | 0 |
|
| Normal phenotype with paternal uniparental isodisomy for chromosome 21 | American journal of human genetics | | | 1993 | 638 | 1 |
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