540 results on '"Waisfisz, Quinten"'
Search Results
2. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
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Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C., Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M., Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, and Van Esch, Hilde
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- 2023
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3. Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
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van de Beek, Irma, Glykofridis, Iris E., Tanck, Michael W. T., Luijten, Monique N. H., Starink, Theo M., Balk, Jesper A., Johannesma, Paul C., Hennekam, Eric, van den Hoff, Maurice J. B., Gunst, Quinn D., Gille, Johan J. P., Polstra, Abeltje M., Postmus, Pieter E., van Steensel, Maurice A. M., Postma, Alex V., Wolthuis, Rob M. F., Menko, Fred H., Houweling, Arjan C., and Waisfisz, Quinten
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- 2023
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4. DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
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van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E.L.M., Dingemans, Alexander J.M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., and Henneman, Peter
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- 2024
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5. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
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Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, and Vaz, Frédéric M
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Undiagnosed Diseases Network ,Humans ,Spastic Paraplegia ,Hereditary ,Ethers ,Aldehyde Oxidoreductases ,Lipids ,Phenotype ,Neurosciences ,Genetics ,Clinical Research ,Pediatric ,2.1 Biological and endogenous factors ,Neurological ,Genetics & Heredity ,Clinical Sciences - Abstract
PurposeIn this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu).MethodsFollowing next-generation sequencing and clinical phenotyping, functional characterization was performed in patients' fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics.ResultsAll patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.ConclusionHeterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts.
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- 2021
6. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
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Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A, Lalani, Seema R, Rosenfeld, Jill A, Azamian, Mahshid S, Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Center, UCLA Clinical Genomics, Nelson, Stanley F, Grody, Wayne W, Deignan, Joshua L, Kang, Sung-Hae, Arboleda, Valerie A, Senaratne, T Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S, Kianmahd, Jessica, Hinkamp, Franceska L, Neustadt, Ahna M, Fogel, Brent L, Quintero-Rivera, Fabiola, Noh, Grace J, Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E, Gavrilova, Ralitza, Mirzaa, Ghayda M, Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A, Ekici, Arif B, Gregor, Anne, van de Laar, Ingrid, and Zweier, Christiane
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Brain Disorders ,Clinical Research ,Intellectual and Developmental Disabilities (IDD) ,Human Genome ,Neurosciences ,2.1 Biological and endogenous factors ,Aetiology ,Animals ,Child ,Drosophila melanogaster ,Female ,Gene Knockdown Techniques ,Genetic Variation ,Heterozygote ,Humans ,Intellectual Disability ,Locomotion ,Male ,Mutation ,Neurodevelopmental Disorders ,RNA Polymerase II ,RNA Processing ,Post-Transcriptional ,RNA ,Messenger ,Seizures ,Serine-Arginine Splicing Factors ,Exome Sequencing ,UCLA Clinical Genomics Center ,SCAF4 ,epilepsy ,intellectual disability ,mRNA processing ,neurodevelopmental disorder ,seizures ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4), which is important for correct usage of polyA sites for mRNA termination. Using exome sequencing and international matchmaking, we identified nine likely pathogenic germline variants in SCAF4 including two splice-site and seven truncating variants, all residing in the N-terminal two thirds of the protein. Eight of these variants occurred de novo, and one was inherited. Affected individuals demonstrated a variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. Paired-end RNA sequencing on blood lymphocytes of SCAF4-deficient individuals revealed a broad deregulation of more than 9,000 genes and significant differential splicing of more than 2,900 genes, indicating an important role of SCAF4 in mRNA processing. Knockdown of the SCAF4 ortholog CG4266 in the model organism Drosophila melanogaster resulted in impaired locomotor function, learning, and short-term memory. Furthermore, we observed an increased number of active zones in larval neuromuscular junctions, representing large glutamatergic synapses. These observations indicate a role of CG4266 in nervous system development and function and support the implication of SCAF4 in neurodevelopmental phenotypes. In summary, our data show that heterozygous, likely gene-disrupting variants in SCAF4 are causative for a variable neurodevelopmental disorder associated with impaired mRNA processing.
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- 2020
7. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
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Guo, Hui, Bettella, Elisa, Marcogliese, Paul, Zhao, Rongjuan, Andrews, Jonathan, Nowakowski, Tomasz, Gillentine, Madelyn, Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein, van Bon, Bregje, Rinne, Tuula, Stevens, Servi, Kleefstra, Tjitske, Brunner, Han, Yntema, Helger, Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles, Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta, Erwin, Deanna, Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy, Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather, Muir, Alison, Scheffer, Ingrid, Regan, Brigid, Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan, Waisfisz, Quinten, Bijlsma, Emilia, Hoffer, Mariëtte, Ruivenkamp, Claudia, Sartori, Stefano, Xia, Fan, Rosenfeld, Jill, Bernier, Raphael, Wangler, Michael, Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander, Bellen, Hugo, Murgia, Alessandra, Eichler, Evan, and Herman, Kristin
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Adolescent ,Adult ,Animals ,Autistic Disorder ,Behavior ,Animal ,Brain ,Child ,Child ,Preschool ,Craniofacial Abnormalities ,Developmental Disabilities ,Drosophila Proteins ,Drosophila melanogaster ,Epilepsy ,Female ,Humans ,Intellectual Disability ,Language Development Disorders ,Male ,Membrane Proteins ,Mental Disorders ,Muscle Proteins ,Mutation ,Nerve Tissue Proteins ,Neurodevelopmental Disorders ,Neuroglia ,Neurons ,Proteins ,Exome Sequencing ,Young Adult - Abstract
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
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- 2019
8. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
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Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe GN, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, Ross, Robert V MacKenzie, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Noordegraaf, Anton Vonk, Waisfisz, Quinten, and Walsworth, Anna K
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Biomedical and Clinical Sciences ,Cardiovascular Medicine and Haematology ,Clinical Sciences ,Genetics ,Human Genome ,Lung ,Aetiology ,2.1 Biological and endogenous factors ,Cardiovascular ,Female ,Genetic Predisposition to Disease ,Genetic Variation ,Genome-Wide Association Study ,Genotyping Techniques ,HLA-DP alpha-Chains ,HLA-DP beta-Chains ,Humans ,Male ,Middle Aged ,Polymorphism ,Single Nucleotide ,Pulmonary Arterial Hypertension ,Risk Assessment ,SOXF Transcription Factors ,Signal Transduction ,Survival Analysis ,UK NIHR BioResource Rare Diseases Consortium ,UK PAH Cohort Study Consortium ,US PAH Biobank Consortium ,Public Health and Health Services ,Other Medical and Health Sciences ,Cardiovascular medicine and haematology ,Clinical sciences - Abstract
BackgroundRare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes.MethodsWe did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses.FindingsA locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10-15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10-20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10-12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SOX17 expression. The HLA-DPA1/DPB1 rs2856830 genotype was strongly associated with survival. Median survival from diagnosis in patients with pulmonary arterial hypertension with the C/C homozygous genotype was double (13·50 years [95% CI 12·07 to >13·50]) that of those with the T/T genotype (6·97 years [6·02-8·05]), despite similar baseline disease severity.InterpretationThis is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials.FundingUK NIHR, BHF, UK MRC, Dinosaur Trust, NIH/NHLBI, ERS, EMBO, Wellcome Trust, EU, AHA, ACClinPharm, Netherlands CVRI, Dutch Heart Foundation, Dutch Federation of UMC, Netherlands OHRD and RNAS, German DFG, German BMBF, APH Paris, INSERM, Université Paris-Sud, and French ANR.
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- 2019
9. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
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Ghosh, Shereen G, Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K, Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M, Efthymiou, Stephanie, Hanna, Michael G, Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B, Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M, Wolf, Nicole I, Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, and Gleeson, Joseph G
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Biochemistry and Cell Biology ,Genetics ,Biological Sciences ,Epilepsy ,Pediatric ,Brain Disorders ,Neurosciences ,Rare Diseases ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,ADP-ribosylation ,ADPRHL2 ,ARH3 ,SUDEP ,ataxia ,epilepsy ,neurodegeneration ,neuropathy ,oxidative stress ,poly-ADP ribose ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2, suggesting functional conservation. Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition.
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- 2018
10. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
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Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M, Southwood, Mark, Machado, Rajiv D, Martin, Jennifer M, Treacy, Carmen M, Yates, Katherine, Daugherty, Louise C, Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Girerd, Barbara, Houweling, Arjan C, Howard, Luke, Humbert, Marc, Kiely, David G, Kovacs, Gabor, MacKenzie Ross, Robert V, Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J, Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J, Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F, Suntharalingam, Jay, Swietlik, Emilia M, Toshner, Mark R, van Heel, David A, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J, Ouwehand, Willem H, Soranzo, Nicole, Lawrie, Allan, Upton, Paul D, Wilkins, Martin R, Trembath, Richard C, and Morrell, Nicholas W
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Humans ,Genetic Predisposition to Disease ,Transforming Growth Factor beta ,Membrane Transport Proteins ,Prognosis ,Case-Control Studies ,Signal Transduction ,Gene Expression Regulation ,Base Sequence ,Mutation ,Models ,Molecular ,Adult ,Female ,Male ,Aquaporin 1 ,Bone Morphogenetic Protein Receptors ,Type II ,Adenosine Triphosphatases ,Growth Differentiation Factors ,SOXF Transcription Factors ,HEK293 Cells ,Familial Primary Pulmonary Hypertension ,Whole Genome Sequencing ,Bone Morphogenetic Protein Receptors ,Type II ,Models ,Molecular - Abstract
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms of PAH. To identify the missing heritability we perform whole-genome sequencing in 1038 PAH index cases and 6385 PAH-negative control subjects. Case-control analyses reveal significant overrepresentation of rare variants in ATP13A3, AQP1 and SOX17, and provide independent validation of a critical role for GDF2 in PAH. We demonstrate familial segregation of mutations in SOX17 and AQP1 with PAH. Mutations in GDF2, encoding a BMPR2 ligand, lead to reduced secretion from transfected cells. In addition, we identify pathogenic mutations in the majority of previously reported PAH genes, and provide evidence for further putative genes. Taken together these findings contribute new insights into the molecular basis of PAH and indicate unexplored pathways for therapeutic intervention.
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- 2018
11. Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy
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Bergner, Caroline G, primary, Breur, Marjolein, additional, Soto-Bernardini, M Clara, additional, Schäfer, Lisa, additional, Lier, Julia, additional, Le Duc, Diana, additional, Bundalian, Linnaeus, additional, Schubert, Susanna, additional, Brenner, David, additional, Kreuz, Friedmar R, additional, Schulte, Björn, additional, Waisfisz, Quinten, additional, Bugiani, Marianna, additional, Köhler, Wolfgang, additional, Sticht, Heinrich, additional, Abou Jamra, Rami, additional, and van der Knaap, Marjo S, additional
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- 2024
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12. Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian
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van den Akker, Erik B., Makrodimitris, Stavros, Hulsman, Marc, Brugman, Martijn H., Nikolic, Tatjana, Bradley, Ted, Waisfisz, Quinten, Baas, Frank, Jakobs, Marja E., de Jong, Daphne, Slagboom, P. Eline, Staal, Frank J. T., Reinders, Marcel J. T., and Holstege, Henne
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- 2021
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13. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
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van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Maša Umićević, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu’Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., and Mathijssen, Inge B.
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- 2021
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14. Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers
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Schmidt, Marjanka K, Hogervorst, Frans, van Hien, Richard, Cornelissen, Sten, Broeks, Annegien, Adank, Muriel A, Meijers, Hanne, Waisfisz, Quinten, Hollestelle, Antoinette, Schutte, Mieke, van den Ouweland, Ans, Hooning, Maartje, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia N, Antoniou, Antonis C, Arndt, Volker, Bermisheva, Marina, Bogdanova, Natalia V, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Galle, Eva, García-Closas, Montserrat, Giles, Graham G, Haeberle, Lothar, Hall, Per, Hillemanns, Peter, Hopper, John L, Jakubowska, Anna, John, Esther M, Jones, Michael, Khusnutdinova, Elza, Knight, Julia A, Kosma, Veli-Matti, Kristensen, Vessela, Lee, Andrew, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Meindl, Alfons, Milne, Roger L, Muranen, Taru A, Newcomb, Polly A, Offit, Kenneth, Park-Simon, Tjoung-Won, Peto, Julian, Pharoah, Paul DP, Robson, Mark, Rudolph, Anja, Sawyer, Elinor J, Schmutzler, Rita K, Seynaeve, Caroline, Soens, Julie, Southey, Melissa C, Spurdle, Amanda B, Surowy, Harald, Swerdlow, Anthony, Tollenaar, Rob AEM, Tomlinson, Ian, Trentham-Dietz, Amy, Vachon, Celine, Wang, Qin, Whittemore, Alice S, Ziogas, Argyrios, van der Kolk, Lizet, Nevanlinna, Heli, Dörk, Thilo, Bojesen, Stig, and Easton, Douglas F
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Clinical Research ,Genetics ,Cancer ,Breast Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Adult ,Age Factors ,Aged ,Aged ,80 and over ,Breast Neoplasms ,Case-Control Studies ,Checkpoint Kinase 2 ,Female ,Genetic Predisposition to Disease ,Heterozygote ,Homozygote ,Humans ,Middle Aged ,Odds Ratio ,Receptors ,Estrogen ,Receptors ,Progesterone ,Risk Assessment ,Sequence Deletion ,Clinical Sciences ,Oncology and Carcinogenesis ,Oncology & Carcinogenesis - Abstract
PurposeCHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC.Patients and methodsCHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies.ResultsProportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10(-20)). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10(-21)]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10(-4)). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom.ConclusionThese CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.
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- 2016
15. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
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Ge, Xiaoyan, Gong, Henry, Dumas, Kevin, Litwin, Jessica, Phillips, Joanna J, Waisfisz, Quinten, Weiss, Marjan M, Hendriks, Yvonne, Stuurman, Kyra E, Nelson, Stanley F, Grody, Wayne W, Lee, Hane, Kwok, Pui-Yan, and Shieh, Joseph Tc
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ARF1 ,Exome sequencing ,GDP/GTP ,MDR ,RAS superfamily ,brain malformation ,missense-depletion ,nucleotide-binding ,variant prioritization - Abstract
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association. To improve variant prioritisation, we leverage population exome data to identify intragenic missense-depleted regions (MDRs) genome-wide that may be important in disease. We then use missense depletion analyses to help prioritise undiagnosed disease exome variants. We demonstrate application of this strategy to identify a novel gene association for human brain malformation. We identified de novo missense variants that affect the GDP/GTP-binding site of ARF1 in three unrelated patients. Corresponding functional analysis suggests ARF1 GDP/GTP-activation is affected by the specific missense mutations associated with heterotopia. These findings expand the genetic pathway underpinning neurologic disease that classically includes FLNA. ARF1 along with ARFGEF2 add further evidence implicating ARF/GEFs in the brain. Using functional ontology, top MDR-containing genes were highly enriched for nucleotide-binding function, suggesting these may be candidates for human disease. Routine consideration of MDR in the interpretation of exome data for rare diseases may help identify strong genetic factors for many severe conditions, infertility/reduction in reproductive capability, and embryonic conditions contributing to preterm loss.
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- 2016
16. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
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Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffaul, Isabelle, Schnur, Rhonda E., Breen, Catherine, Oegema, Renske, Weiss, Marjan M.M., Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A., Boon, Elles M.J., Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T., Scarano, Maria, Schaefer, G. Bradley, Brooks, Susan S., Hughes, Susan Starling, van Gassen, K.L.I., van Hagen, Johanna M., Pandita, Tej K., Agrawal, Pankaj B., Campeau, Philippe M., and Yang, Xiang- Jiao
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Thermo Fisher Scientific Inc. ,Brain ,Epigenetic inheritance ,Lysine ,Apoptosis ,Scientific equipment industry ,Acylation ,Disabilities ,Autism ,Seizures (Medicine) ,Epilepsy ,Diseases ,Health care industry - Abstract
Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and influence disease. Lysine acetyltransferase 8 (KAT8) is critical for acetylation of histone H4 at lysine 16 (H4K16), an evolutionarily conserved epigenetic mark. It is unclear what roles KAT8 plays in cerebral development and human disease. Here, we report that cerebrum-specific knockout mice displayed cerebral hypoplasia in the neocortex and hippocampus, along with improper neural stem and progenitor cell (NSPC) development. Mutant cerebrocortical neuroepithelia exhibited faulty proliferation, aberrant neurogenesis, massive apoptosis, and scant H4K16 propionylation. Mutant NSPCs formed poor neurospheres, and pharmacological KAT8 inhibition abolished neurosphere formation. Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. The variants altered chromobarrel and catalytic domains of KAT8, thereby impairing nucleosomal H4K16 acetylation. Valproate was effective for treating epilepsy in at least 2 of the individuals. This study uncovers a critical role of KAT8 in cerebral and NSPC development, identifies 9 individuals with KAT8 variants, and links deficient H4K16 acylation directly to intellectual disability, epilepsy, and other developmental anomalies., Introduction Hundreds of epigenetic regulators have been identified and characterized, but much less is known about their pathophysiological roles. Lysine acetyltransferases (KATs) form a prominent group of chromatin regulators, catalyze [...]
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- 2020
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17. Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
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Kleinendorst, Lotte, Alsters, Sanne I. M., Abawi, Ozair, Waisfisz, Quinten, Boon, Elles M. J., van den Akker, Erica L. T., and van Haelst, Mieke M.
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- 2020
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18. Large-scale genotyping identifies 41 new loci associated with breast cancer risk
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Michailidou, Kyriaki, Hall, Per, Gonzalez-Neira, Anna, Ghoussaini, Maya, Dennis, Joe, Milne, Roger L, Schmidt, Marjanka K, Chang-Claude, Jenny, Bojesen, Stig E, Bolla, Manjeet K, Wang, Qin, Dicks, Ed, Lee, Andrew, Turnbull, Clare, Rahman, Nazneen, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Hopper, John L, Southey, Melissa C, Makalic, Enes, Schmidt, Daniel F, Uitterlinden, Andre G, Hofman, Albert, Hunter, David J, Chanock, Stephen J, Vincent, Daniel, Bacot, François, Tessier, Daniel C, Canisius, Sander, Wessels, Lodewyk FA, Haiman, Christopher A, Shah, Mitul, Luben, Robert, Brown, Judith, Luccarini, Craig, Schoof, Nils, Humphreys, Keith, Li, Jingmei, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Couch, Fergus J, Wang, Xianshu, Vachon, Celine, Stevens, Kristen N, Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Johnson, Nichola, Aitken, Zoe, Aaltonen, Kirsimari, Heikkinen, Tuomas, Broeks, Annegien, Veer, Laura J Van't, van der Schoot, C Ellen, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Menegaux, Florence, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Zamora, M Pilar, Perez, Jose Ignacio Arias, Pita, Guillermo, Alonso, M Rosario, Cox, Angela, Brock, Ian W, Cross, Simon S, Reed, Malcolm WR, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, and Henderson, Brian E
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Biological Sciences ,Genetics ,Human Genome ,Prevention ,Breast Cancer ,Cancer ,Breast Neoplasms ,Case-Control Studies ,Cooperative Behavior ,Female ,Gene-Environment Interaction ,Genetic Loci ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Humans ,Meta-Analysis as Topic ,Polymorphism ,Single Nucleotide ,Risk Factors ,Breast and Ovarian Cancer Susceptibility Collaboration ,Hereditary Breast and Ovarian Cancer Research Group Netherlands ,kConFab Investigators ,Australian Ovarian Cancer Study Group ,GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.
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- 2013
19. Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy
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Kapferer-Seebacher, Ines, Waisfisz, Quinten, Boesch, Sylvia, Bronk, Marieke, van Tintelen, Peter, Gizewski, Elke R., Groebner, Rebekka, Zschocke, Johannes, and van der Knaap, Marjo S.
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- 2019
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20. Genome-wide association analysis identifies three new breast cancer susceptibility loci
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Ghoussaini, Maya, Fletcher, Olivia, Michailidou, Kyriaki, Turnbull, Clare, Schmidt, Marjanka K, Dicks, Ed, Dennis, Joe, Wang, Qin, Humphreys, Manjeet K, Luccarini, Craig, Baynes, Caroline, Conroy, Don, Maranian, Melanie, Ahmed, Shahana, Driver, Kristy, Johnson, Nichola, Orr, Nicholas, dos Santos Silva, Isabel, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Uitterlinden, Andre G, Rivadeneira, Fernando, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Nevanlinna, Heli, Aittomäki, Kristiina, Blomqvist, Carl, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Chang-Claude, Jenny, Hein, Rebecca, Nickels, Stefan, Flesch-Janys, Dieter, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel, Bui, Minh, Hopper, John L, Apicella, Carmel, Park, Daniel J, Southey, Melissa, Hunter, David J, Chanock, Stephen J, Broeks, Annegien, Verhoef, Senno, Hogervorst, Frans BL, Fasching, Peter A, Lux, Michael P, Beckmann, Matthias W, Ekici, Arif B, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Milne, Roger L, Alonso, M Rosario, González-Neira, Anna, Benítez, Javier, Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Dur, Christina Clarke, Brenner, Hermann, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Justenhoven, Christina, Brauch, Hiltrud, Brüning, Thomas, Wang-Gohrke, Shan, Eilber, Ursula, Dörk, Thilo, Schürmann, Peter, Bremer, Michael, Hillemanns, Peter, Bogdanova, Natalia V, Antonenkova, Natalia N, Rogov, Yuri I, Karstens, Johann H, Bermisheva, Marina, Prokofieva, Darya, Khusnutdinova, Elza, Lindblom, Annika, Margolin, Sara, and Mannermaa, Arto
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Biological Sciences ,Genetics ,Estrogen ,Human Genome ,Prevention ,Cancer ,Breast Cancer ,Aetiology ,2.1 Biological and endogenous factors ,Breast Neoplasms ,Chromosomes ,Human ,Pair 12 ,Chromosomes ,Human ,Pair 21 ,Female ,Genetic Loci ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,Logistic Models ,Polymorphism ,Single Nucleotide ,Principal Component Analysis ,White People ,Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer ,Familial Breast Cancer Study ,Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network ,kConFab Investigators ,Australian Ovarian Cancer Study Group ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
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- 2012
21. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
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Maxwell, Christopher A, Benítez, Javier, Gómez-Baldó, Laia, Osorio, Ana, Bonifaci, Núria, Fernández-Ramires, Ricardo, Costes, Sylvain V, Guinó, Elisabet, Chen, Helen, Evans, Gareth JR, Mohan, Pooja, Català, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B, Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Dubrovsky, Maya, Milgrom, Roni, Jakubowska, Anna, Cybulski, Cezary, Gorski, Bohdan, Jaworska, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Lubiński, Jan, Shugart, Yin Yao, Domchek, Susan M, Letrero, Richard, Weber, Barbara L, Hogervorst, Frans BL, Rookus, Matti A, Collee, J Margriet, Devilee, Peter, Ligtenberg, Marjolijn J, Luijt, Rob B van der, Aalfs, Cora M, Waisfisz, Quinten, Wijnen, Juul, Roozendaal, Cornelis EP van, HEBON, EMBRACE, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Eccles, Diana, Douglas, Fiona, Brewer, Carole, Nevanlinna, Heli, Heikkinen, Tuomas, Couch, Fergus J, Lindor, Noralane M, Wang, Xianshu, Godwin, Andrew K, Caligo, Maria A, Lombardi, Grazia, Loman, Niklas, Karlsson, Per, Ehrencrona, Hans, Wachenfeldt, Anna von, SWE-BRCA, Barkardottir, Rosa Bjork, Hamann, Ute, Rashid, Muhammad U, Lasa, Adriana, Caldés, Trinidad, Andrés, Raquel, Schmitt, Michael, Assmann, Volker, Stevens, Kristen, Offit, Kenneth, Curado, João, Tilgner, Hagen, Guigó, Roderic, Aiza, Gemma, Brunet, Joan, Castellsagué, Joan, and Martrat, Griselda
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HEBON ,EMBRACE ,SWE-BRCA ,BCFR ,GEMO Study Collaborators ,kConFab ,Breast ,Cell Line ,Tumor ,Hela Cells ,Microtubules ,Epithelial Cells ,Humans ,Breast Neoplasms ,Genetic Predisposition to Disease ,Protein-Serine-Threonine Kinases ,BRCA1 Protein ,BRCA2 Protein ,Receptors ,Estrogen ,Extracellular Matrix Proteins ,Cell Polarity ,Genotype ,Heterozygote ,Genes ,BRCA1 ,Genes ,BRCA2 ,Female ,Genetic Variation ,Aurora Kinase A ,Aurora Kinases ,Hyaluronan Receptors ,HeLa Cells ,Cell Line ,Tumor ,Receptors ,Estrogen ,Genes ,BRCA1 ,BRCA2 ,Biological Sciences ,Agricultural and Veterinary Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio ((w)HR) = 1.09 (95% CI 1.02-1.16), p(trend) = 0.017; and n = 3,965, (w)HR = 1.04 (95% CI 0.94-1.16), p(trend) = 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubules. Mechanistically, reorganization is facilitated by BRCA1 and impaired by AURKA, which is regulated by negative feedback involving RHAMM and TPX2. Taken together, our data provide fundamental insight into apicobasal polarization through BRCA1 function, which may explain the expanded cell subsets and characteristic tumor type accompanying BRCA1 mutation, while also linking this process to sporadic breast cancer through perturbation of HMMR/RHAMM.
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- 2011
22. Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
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Passchier, Emma M J, primary, Kerst, Sven, additional, Brouwers, Eelke, additional, Hamilton, Eline M C, additional, Bisseling, Quinty, additional, Bugiani, Marianna, additional, Waisfisz, Quinten, additional, Kitchen, Philip, additional, Unger, Lucas, additional, Breur, Marjolein, additional, Hoogterp, Leoni, additional, de Vries, Sharon I, additional, Abbink, Truus E M, additional, Kole, Maarten H P, additional, Leurs, Rob, additional, Vischer, Henry F, additional, Brignone, Maria S, additional, Ambrosini, Elena, additional, Feillet, François, additional, Born, Alfred P, additional, Epstein, Leon G, additional, Mansvelder, Huibert D, additional, Min, Rogier, additional, and van der Knaap, Marjo S, additional
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- 2023
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23. Biallelic Inactivation of BRCA2 in Fanconi Anemia
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Howlett, Niall C., Taniguchi, Toshiyasu, Olson, Susan, Cox, Barbara, Waisfisz, Quinten, de Die-Smulders, Christine, Persky, Nicole, Grompe, Markus, Joenje, Hans, Pals, Gerard, Ikeda, Hideyuki, Fox, Edward A., and D'Andrea, Alan D.
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- 2002
24. A Physical Complex of the Fanconi Anemia Proteins FANCG/XRCC9 and FANCA
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Waisfisz, Quinten, De Winter, Johan P., de Groot, Jan, van der Weel, Laura, Dijkmans, Lonneke M., Zhi, Yu, Arwert, Fre, Scheper, Rik J., Youssoufian, Hagop, Hoatlin, Maureen E., and Joenje, Hans
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- 1999
25. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
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Wu, Lang, Shi, Wei, Long, Jirong, Guo, Xingyi, Michailidou, Kyriaki, Beesley, Jonathan, Bolla, Manjeet K., Shu, Xiao-Ou, Lu, Yingchang, Cai, Qiuyin, Al-Ejeh, Fares, Rozali, Esdy, Wang, Qin, Dennis, Joe, Li, Bingshan, Zeng, Chenjie, Feng, Helian, Gusev, Alexander, Barfield, Richard T., Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Auer, Paul L., Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brucker, Sara Y., Burwinkel, Barbara, Caldés, Trinidad, Canzian, Federico, Carter, Brian D., Castelao, J. Esteban, Chang-Claude, Jenny, Chen, Xiaoqing, Cheng, Ting-Yuan David, Christiansen, Hans, Clarke, Christine L., NBCS Collaborators, Collée, Margriet, Cornelissen, Sten, Couch, Fergus J., Cox, David, Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Dwek, Miriam, Eccles, Diana M., Eilber, Ursula, Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Fachal, Laura, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike, Gago-Dominguez, Manuela, Gapstur, Susan M., García-Closas, Montserrat, Gaudet, Mia M., Ghoussaini, Maya, Giles, Graham G., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hallberg, Emily, Hamann, Ute, Harrington, Patricia, Hein, Alexander, Hicks, Belynda, Hillemanns, Peter, Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Huang, Guanmengqian, Humphreys, Keith, Hunter, David J., Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kerin, Michael J., Khusnutdinova, Elza, Kosma, Veli-Matti, Kristensen, Vessela N., Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindström, Sara, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., MacInnis, Robert J., Maishman, Tom, Kostovska, Ivana Maleva, Mannermaa, Arto, Manson, JoAnn E., Margolin, Sara, Mavroudis, Dimitrios, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Meyer, Jeffery, Mulligan, Anna Marie, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Nordestgaard, Børge G., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gad, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Rudolph, Anja, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Scott, Rodney J., Scott, Christopher G., Seal, Sheila, Shah, Mitul, Shrubsole, Martha J., Smeets, Ann, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William, Taylor, Jack A., Terry, Mary Beth, Tessier, Daniel C., Thomas, Abigail, Thöne, Kathrin, Tollenaar, Rob A. E. M., Torres, Diana, Truong, Thérèse, Untch, Michael, Vachon, Celine, Van Den Berg, David, Vincent, Daniel, Waisfisz, Quinten, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter C., Winqvist, Robert, Wolk, Alicja, Xia, Lucy, Yang, Xiaohong R., Ziogas, Argyrios, Ziv, Elad, kConFab/AOCS Investigators, Dunning, Alison M., Pharoah, Paul D. P., Simard, Jacques, Milne, Roger L., Edwards, Stacey L., Kraft, Peter, Easton, Douglas F., Chenevix-Trench, Georgia, and Zheng, Wei
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- 2018
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26. Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
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Bal, Elodie, Park, Hyun-Sook, Belaid-Choucair, Zakia, Kayserili, Hülya, Naville, Magali, Madrange, Marine, Chiticariu, Elena, Hadj-Rabia, Smail, Cagnard, Nicolas, Kuonen, Francois, Bachmann, Daniel, Huber, Marcel, Le Gall, Cindy, Côté, Francine, Hanein, Sylvain, Rosti, Rasim Özgür, Aslanger, Ayca Dilruba, Waisfisz, Quinten, Bodemer, Christine, Hermine, Olivier, Morice-Picard, Fanny, Labeille, Bruno, Caux, Frédéric, Mazereeuw-Hautier, Juliette, Philip, Nicole, Levy, Nicolas, Taieb, Alain, Avril, Marie-Françoise, Headon, Denis J, Gyapay, Gabor, Magnaldo, Thierry, Fraitag, Sylvie, Crollius, Hugues Roest, Vabres, Pierre, Hohl, Daniel, Munnich, Arnold, and Smahi, Asma
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Hedgehog proteins -- Health aspects ,Basal cell carcinoma -- Genetic aspects -- Development and progression -- Care and treatment ,Gene mutation -- Health aspects ,Cellular signal transduction -- Genetic aspects -- Health aspects ,Biological sciences ,Health - Abstract
Author(s): Elodie Bal (corresponding author) [1, 2]; Hyun-Sook Park [3]; Zakia Belaid-Choucair [1, 2, 4]; Hülya Kayserili [5, 6]; Magali Naville [7, 8, 9]; Marine Madrange [1, 2]; Elena Chiticariu [...]
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- 2017
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27. Figure S4 from Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
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Hammerl, Dora, primary, Massink, Maarten P.G., primary, Smid, Marcel, primary, van Deurzen, Carolien H.M., primary, Meijers-Heijboer, Hanne E.J., primary, Waisfisz, Quinten, primary, Debets, Reno, primary, and Martens, John W.M., primary
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- 2023
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28. Supplementary Methods, Tables 1 - 6 from A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age
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Ahsan, Habibul, primary, Halpern, Jerry, primary, Kibriya, Muhammad G., primary, Pierce, Brandon L., primary, Tong, Lin, primary, Gamazon, Eric, primary, McGuire, Valerie, primary, Felberg, Anna, primary, Shi, Jianxin, primary, Jasmine, Farzana, primary, Roy, Shantanu, primary, Brutus, Rachelle, primary, Argos, Maria, primary, Melkonian, Stephanie, primary, Chang-Claude, Jenny, primary, Andrulis, Irene, primary, Hopper, John L., primary, John, Esther M., primary, Malone, Kathi, primary, Ursin, Giske, primary, Gammon, Marilie D., primary, Thomas, Duncan C., primary, Seminara, Daniela, primary, Casey, Graham, primary, Knight, Julia A., primary, Southey, Melissa C., primary, Giles, Graham G., primary, Santella, Regina M., primary, Lee, Eunjung, primary, Conti, David, primary, Duggan, David, primary, Gallinger, Steve, primary, Haile, Robert, primary, Jenkins, Mark, primary, Lindor, Noralane M., primary, Newcomb, Polly, primary, Michailidou, Kyriaki, primary, Apicella, Carmel, primary, Park, Daniel J., primary, Peto, Julian, primary, Fletcher, Olivia, primary, dos Santos Silva, Isabel, primary, Lathrop, Mark, primary, Hunter, David J., primary, Chanock, Stephen J., primary, Meindl, Alfons, primary, Schmutzler, Rita K., primary, Müller-Myhsok, Bertram, primary, Lochmann, Magdalena, primary, Beckmann, Lars, primary, Hein, Rebecca, primary, Makalic, Enes, primary, Schmidt, Daniel F., primary, Bui, Quang Minh, primary, Stone, Jennifer, primary, Flesch-Janys, Dieter, primary, Dahmen, Norbert, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Hall, Per, primary, Czene, Kamila, primary, Irwanto, Astrid, primary, Liu, Jianjun, primary, Rahman, Nazneen, primary, Turnbull, Clare, primary, Dunning, Alison M., primary, Pharoah, Paul, primary, Waisfisz, Quinten, primary, Meijers-Heijboer, Hanne, primary, Uitterlinden, Andre G., primary, Rivadeneira, Fernando, primary, Nicolae, Dan, primary, Easton, Douglas F., primary, Cox, Nancy J., primary, and Whittemore, Alice S., primary
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- 2023
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29. Supplementary Legend from Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
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Hammerl, Dora, primary, Massink, Maarten P.G., primary, Smid, Marcel, primary, van Deurzen, Carolien H.M., primary, Meijers-Heijboer, Hanne E.J., primary, Waisfisz, Quinten, primary, Debets, Reno, primary, and Martens, John W.M., primary
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- 2023
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30. Supplementary Table 1 from Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
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Hammerl, Dora, primary, Massink, Maarten P.G., primary, Smid, Marcel, primary, van Deurzen, Carolien H.M., primary, Meijers-Heijboer, Hanne E.J., primary, Waisfisz, Quinten, primary, Debets, Reno, primary, and Martens, John W.M., primary
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- 2023
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31. TIL signature genes (150-probes and 120-probes) from Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
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Hammerl, Dora, primary, Massink, Maarten P.G., primary, Smid, Marcel, primary, van Deurzen, Carolien H.M., primary, Meijers-Heijboer, Hanne E.J., primary, Waisfisz, Quinten, primary, Debets, Reno, primary, and Martens, John W.M., primary
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- 2023
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32. Cox regression of individual genes related to T cell evasion from Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
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Hammerl, Dora, primary, Massink, Maarten P.G., primary, Smid, Marcel, primary, van Deurzen, Carolien H.M., primary, Meijers-Heijboer, Hanne E.J., primary, Waisfisz, Quinten, primary, Debets, Reno, primary, and Martens, John W.M., primary
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- 2023
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33. Data from A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age
- Author
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Ahsan, Habibul, primary, Halpern, Jerry, primary, Kibriya, Muhammad G., primary, Pierce, Brandon L., primary, Tong, Lin, primary, Gamazon, Eric, primary, McGuire, Valerie, primary, Felberg, Anna, primary, Shi, Jianxin, primary, Jasmine, Farzana, primary, Roy, Shantanu, primary, Brutus, Rachelle, primary, Argos, Maria, primary, Melkonian, Stephanie, primary, Chang-Claude, Jenny, primary, Andrulis, Irene, primary, Hopper, John L., primary, John, Esther M., primary, Malone, Kathi, primary, Ursin, Giske, primary, Gammon, Marilie D., primary, Thomas, Duncan C., primary, Seminara, Daniela, primary, Casey, Graham, primary, Knight, Julia A., primary, Southey, Melissa C., primary, Giles, Graham G., primary, Santella, Regina M., primary, Lee, Eunjung, primary, Conti, David, primary, Duggan, David, primary, Gallinger, Steve, primary, Haile, Robert, primary, Jenkins, Mark, primary, Lindor, Noralane M., primary, Newcomb, Polly, primary, Michailidou, Kyriaki, primary, Apicella, Carmel, primary, Park, Daniel J., primary, Peto, Julian, primary, Fletcher, Olivia, primary, dos Santos Silva, Isabel, primary, Lathrop, Mark, primary, Hunter, David J., primary, Chanock, Stephen J., primary, Meindl, Alfons, primary, Schmutzler, Rita K., primary, Müller-Myhsok, Bertram, primary, Lochmann, Magdalena, primary, Beckmann, Lars, primary, Hein, Rebecca, primary, Makalic, Enes, primary, Schmidt, Daniel F., primary, Bui, Quang Minh, primary, Stone, Jennifer, primary, Flesch-Janys, Dieter, primary, Dahmen, Norbert, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Hall, Per, primary, Czene, Kamila, primary, Irwanto, Astrid, primary, Liu, Jianjun, primary, Rahman, Nazneen, primary, Turnbull, Clare, primary, Dunning, Alison M., primary, Pharoah, Paul, primary, Waisfisz, Quinten, primary, Meijers-Heijboer, Hanne, primary, Uitterlinden, Andre G., primary, Rivadeneira, Fernando, primary, Nicolae, Dan, primary, Easton, Douglas F., primary, Cox, Nancy J., primary, and Whittemore, Alice S., primary
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- 2023
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34. Genes related to T cell evasion from Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
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Hammerl, Dora, primary, Massink, Maarten P.G., primary, Smid, Marcel, primary, van Deurzen, Carolien H.M., primary, Meijers-Heijboer, Hanne E.J., primary, Waisfisz, Quinten, primary, Debets, Reno, primary, and Martens, John W.M., primary
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- 2023
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35. WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data
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Straver, Roy, Weiss, Marjan M., Waisfisz, Quinten, Sistermans, Erik A., and Reinders, Marcel J. T.
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- 2017
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36. A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
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Rumping, Lynne, primary, Pouwels, Petra J. W., additional, Wolf, Nicole I., additional, Rehmann, Holger, additional, Wamelink, Mirjam M. C., additional, Waisfisz, Quinten, additional, Jans, Judith J. M., additional, Prinsen, Hubertus C. M. T., additional, van de Kamp, Jiddeke M., additional, and van Hasselt, Peter M., additional
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- 2023
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37. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
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Hiatt, Susan M., primary, Trajkova, Slavica, additional, Sebastiano, Matteo Rossi, additional, Partridge, E. Christopher, additional, Abidi, Fatima E., additional, Anderson, Ashlyn, additional, Ansar, Muhammad, additional, Antonarakis, Stylianos E., additional, Azadi, Azadeh, additional, Bachmann-Gagescu, Ruxandra, additional, Bartuli, Andrea, additional, Benech, Caroline, additional, Berkowitz, Jennifer L., additional, Betti, Michael J., additional, Brusco, Alfredo, additional, Cannon, Ashley, additional, Caron, Giulia, additional, Chen, Yanmin, additional, Cochran, Meagan E., additional, Coleman, Tanner F., additional, Crenshaw, Molly M., additional, Cuisset, Laurence, additional, Curry, Cynthia J., additional, Darvish, Hossein, additional, Demirdas, Serwet, additional, Descartes, Maria, additional, Douglas, Jessica, additional, Dyment, David A., additional, Elloumi, Houda Zghal, additional, Ermondi, Giuseppe, additional, Faoucher, Marie, additional, Farrow, Emily G., additional, Felker, Stephanie A., additional, Fisher, Heather, additional, Hurst, Anna C.E., additional, Joset, Pascal, additional, Kelly, Melissa A., additional, Kmoch, Stanislav, additional, Leadem, Benjamin R., additional, Lyons, Michael J., additional, Macchiaiolo, Marina, additional, Magner, Martin, additional, Mandrile, Giorgia, additional, Mattioli, Francesca, additional, McEown, Megan, additional, Meadows, Sarah K., additional, Medne, Livija, additional, Meeks, Naomi J.L., additional, Montgomery, Sarah, additional, Napier, Melanie P., additional, Natowicz, Marvin, additional, Newberry, Kimberly M., additional, Niceta, Marcello, additional, Noskova, Lenka, additional, Nowak, Catherine B., additional, Noyes, Amanda G., additional, Osmond, Matthew, additional, Prijoles, Eloise J., additional, Pugh, Jada, additional, Pullano, Verdiana, additional, Quélin, Chloé, additional, Rahimi-Aliabadi, Simin, additional, Rauch, Anita, additional, Redon, Sylvia, additional, Reymond, Alexandre, additional, Schwager, Caitlin R., additional, Sellars, Elizabeth A., additional, Scheuerle, Angela E., additional, Shukarova-Angelovska, Elena, additional, Skraban, Cara, additional, Stolerman, Elliot, additional, Sullivan, Bonnie R., additional, Tartaglia, Marco, additional, Thiffault, Isabelle, additional, Uguen, Kevin, additional, Umaña, Luis A., additional, van Bever, Yolande, additional, van der Crabben, Saskia N., additional, van Slegtenhorst, Marjon A., additional, Waisfisz, Quinten, additional, Washington, Camerun, additional, Rodan, Lance H., additional, Myers, Richard M., additional, and Cooper, Gregory M., additional
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- 2023
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38. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
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Snijders Blok, Lot, primary, Verseput, Jolijn, additional, Rots, Dmitrijs, additional, Venselaar, Hanka, additional, Innes, A. Micheil, additional, Stumpel, Connie, additional, Õunap, Katrin, additional, Reinson, Karit, additional, Seaby, Eleanor G., additional, McKee, Shane, additional, Burton, Barbara, additional, Kim, Katherine, additional, van Hagen, Johanna M., additional, Waisfisz, Quinten, additional, Joset, Pascal, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Li, Dong, additional, Zackai, Elaine H., additional, Sheppard, Sarah E., additional, Keena, Beth, additional, Hakonarson, Hakon, additional, Roos, Andreas, additional, Kohlschmidt, Nicolai, additional, Cereda, Anna, additional, Iascone, Maria, additional, Rebessi, Erika, additional, Kernohan, Kristin D., additional, Campeau, Philippe M., additional, Millan, Francisca, additional, Taylor, Jesse A., additional, Lochmüller, Hanns, additional, Higgs, Martin R., additional, Goula, Amalia, additional, Bernhard, Birgitta, additional, Velasco, Danita J., additional, Schmanski, Andrew A., additional, Stark, Zornitza, additional, Gallacher, Lyndon, additional, Pais, Lynn, additional, Marcogliese, Paul C., additional, Yamamoto, Shinya, additional, Raun, Nicholas, additional, Jakub, Taryn E., additional, Kramer, Jamie M., additional, den Hoed, Joery, additional, Fisher, Simon E., additional, Brunner, Han G., additional, and Kleefstra, Tjitske, additional
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- 2023
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39. Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics
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Feng, Yen-Chen Anne, Cho, Kelly, Lindstrom, Sara, Kraft, Peter, Cormack, Jean, Liang, Liming, Driver, Jane A., Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Gruber, Stephen B., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Peters, Ulrike, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Hunter, David J., Lindström, Sara, Kraft, Peter, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Severi, Gianluca, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Kraft, Peter, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Bickeböller, Heike, Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Landi, Maria Teresa, Heinrich, Joachim, Risch, Angela, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Amos, Christopher I., IGAP Consortium, Colorectal Transdisciplinary Study (CORECT), Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), and Transdisciplinary Research in Cancer of the Lung (TRICL)
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- 2017
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40. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
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van der Knaap, Marjo S., Bugiani, Marianna, Mendes, Marisa I., Riley, Lisa G., Smith, Desiree E.C., Rudinger-Thirion, Joëlle, Frugier, Magali, Breur, Marjolein, Crawford, Joanna, van Gaalen, Judith, Schouten, Meyke, Willems, Marjolaine, Waisfisz, Quinten, Mau-Them, Frederic Tran, Rodenburg, Richard J., Taft, Ryan J., Keren, Boris, Christodoulou, John, Depienne, Christel, Simons, Cas, Salomons, Gajja S., and Mochel, Fanny
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- 2019
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41. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis
- Author
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van de Beek, Irma, primary, Glykofridis, Iris E, additional, Oosterwijk, Jan C, additional, van den Akker, Peter C, additional, Diercks, Gilles F H, additional, Bolling, Maria C, additional, Waisfisz, Quinten, additional, Mensenkamp, Arjen R, additional, Balk, Jesper A, additional, Zwart, Rob, additional, Postma, Alex V, additional, Meijers-Heijboer, Hanne E J, additional, van Moorselaar, R Jeroen A, additional, Wolthuis, Rob M F, additional, and Houweling, Arjan C, additional
- Published
- 2022
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42. Biallelic variants in theSLC13A1sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia
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van de Kamp, Jiddeke M., primary, Bökenkamp, Arend, additional, Smith, Desiree E. C., additional, Wamelink, Mirjam M. C., additional, Jansen, Erwin E. W., additional, Struys, Eduard A., additional, Waisfisz, Quinten, additional, Verkleij, Marieke, additional, Hartmann, Michaela F., additional, Wang, Rong, additional, Wudy, Stefan A., additional, Paganini, Chiara, additional, Rossi, Antonio, additional, and Finken, Martijn J. J., additional
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- 2022
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43. Association analysis identifies 65 new breast cancer risk loci
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Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, François, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Neng Lee, Chuen, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, and Easton, Douglas F.
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- 2017
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44. First steps in exploring prospective exome sequencing of consanguineous couples
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Teeuw, Marieke, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Sistermans, Erik A., Weiss, Marjan M., Henneman, Lidewij, ten Kate, Leo P., Cornel, Martina C., and Meijers-Heijboer, Hanne
- Published
- 2014
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45. Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype
- Author
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Hiatt, Susan M., primary, Trajkova, Slavica, additional, Sebastiano, Matteo Rossi, additional, Partridge, E. Christopher, additional, Abidi, Fatima E., additional, Anderson, Ashlyn, additional, Ansar, Muhammad, additional, Antonarakis, Stylianos E., additional, Azadi, Azadeh, additional, Bachmann-Gagescu, Ruxandra, additional, Bartuli, Andrea, additional, Benech, Caroline, additional, Berkowitz, Jennifer L., additional, Betti, Michael J., additional, Brusco, Alfredo, additional, Cannon, Ashley, additional, Caron, Giulia, additional, Chen, Yanmin, additional, Crenshaw, Molly M., additional, Cuisset, Laurence, additional, Curry, Cynthia J., additional, Darvish, Hossein, additional, Demirdas, Serwet, additional, Descartes, Maria, additional, Douglas, Jessica, additional, Dyment, David A., additional, Elloumi, Houda Zghal, additional, Ermondi, Giuseppe, additional, Faoucher, Marie, additional, Farrow, Emily G., additional, Felker, Stephanie A., additional, Fisher, Heather, additional, Hurst, Anna C. E., additional, Joset, Pascal, additional, Kmoch, Stanislav, additional, Leadem, Benjamin R., additional, Macchiaiolo, Marina, additional, Magner, Martin, additional, Mandrile, Giorgia, additional, Mattioli, Francesca, additional, McEown, Megan, additional, Meadows, Sarah K., additional, Medne, Livija, additional, Meeks, Naomi J. L., additional, Montgomery, Sarah, additional, Napier, Melanie P., additional, Natowicz, Marvin, additional, Newberry, Kimberly M., additional, Niceta, Marcello, additional, Noskova, Lenka, additional, Nowak, Catherine, additional, Noyes, Amanda G., additional, Osmond, Matthew, additional, Pullano, Verdiana, additional, Quélin, Chloé, additional, Rahimi-Aliabadi, Simin, additional, Rauch, Anita, additional, Redon, Sylvia, additional, Reymond, Alexandre, additional, Schwager, Caitlin R., additional, Sellars, Elizabeth A., additional, Scheuerle, Angela, additional, Shukarova-Angelovska, Elena, additional, Skraban, Cara, additional, Sullivan, Bonnie R., additional, Tartaglia, Marco, additional, Thiffault, Isabelle, additional, Uguen, Kevin, additional, Umaña, Luis A., additional, van Bever, Yolande, additional, van der Crabben, Saskia N., additional, van Slegtenhorst, Marjon A., additional, Waisfisz, Quinten, additional, Myers, Richard M., additional, and Cooper, Gregory M., additional
- Published
- 2022
- Full Text
- View/download PDF
46. Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
- Author
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do Rosario, Michelle C, primary, Bey, Guillermo Rodriguez, additional, Nmezi, Bruce, additional, Liu, Fang, additional, Oranburg, Talia, additional, Cohen, Ana S A, additional, Coffman, Keith A, additional, Brown, Maya R, additional, Kiselyov, Kirill, additional, Waisfisz, Quinten, additional, Flohil, Myrthe T, additional, Siddiqui, Shahyan, additional, Rosenfeld, Jill A, additional, Iglesias, Alejandro, additional, Girisha, Katta Mohan, additional, Wolf, Nicole I, additional, Padiath, Quasar Saleem, additional, and Shukla, Anju, additional
- Published
- 2022
- Full Text
- View/download PDF
47. Benign and malignant tumors in Rubinstein–Taybi syndrome
- Author
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Boot, Max V., van Belzen, Martine J., Overbeek, Lucy I., Hijmering, Nathalie, Mendeville, Matias, Waisfisz, Quinten, Wesseling, Pieter, Hennekam, Raoul C., and de Jong, Daphne
- Published
- 2018
- Full Text
- View/download PDF
48. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
- Author
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Simons, Cas, Dyment, David, Bent, Stephen J, Crawford, Joanna, D’Hooghe, Marc, Kohlschütter, Alfried, Venkateswaran, Sunita, Helman, Guy, Poll-The, Bwee-Tien, Makowski, Christine C, Ito, Yoko, Kernohan, Kristin, Hartley, Taila, Waisfisz, Quinten, Taft, Ryan J, van der Knaap, Marjo S, and Wolf, Nicole I
- Published
- 2017
- Full Text
- View/download PDF
49. UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
- Author
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Hamilton, Eline M.C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojčáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L., Plecko, Barbara, Blaser, Susan, Wolf, Nicole I., Waisfisz, Quinten, Abbink, Truus E.M., and van der Knaap, Marjo S.
- Published
- 2017
- Full Text
- View/download PDF
50. A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
- Author
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Rumping, Lynne, Pouwels, Petra J. W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M. C., Waisfisz, Quinten, Jans, Judith J. M., Prinsen, Hubertus C. M. T., van de Kamp, Jiddeke M., and van Hasselt, Peter M.
- Published
- 2023
- Full Text
- View/download PDF
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