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2. Diagnostic yield of endoscopic and EUS-guided biopsy techniques in subepithelial lesions of the upper GI tract:a systematic review

Author

Verloop, Cynthia A., Goos, Jacqueline A.C., Bruno, Marco J., Quispel, Rutger, van Driel, Lydi M.J.W., Hol, Lieke, Verloop, Cynthia A., Goos, Jacqueline A.C., Bruno, Marco J., Quispel, Rutger, van Driel, Lydi M.J.W., and Hol, Lieke

Abstract

Background and Aims: Obtaining adequate tissue samples in subepithelial lesions (SELs) remains challenging. Several biopsy techniques are available, but a systematic review including all available techniques to obtain a histologic diagnosis of SEL is lacking. The aim of this study was to evaluate the diagnostic yield and adverse event rates of endoscopic biopsies, EUS-guided FNA (EUS-FNA), EUS-guided fine-needle biopsy (FNB) (EUS-FNB), and mucosal incision-assisted biopsy (MIAB) for SELs in the upper GI tract. Methods: A search strategy in multiple databases was performed. The primary outcome was diagnostic yield, defined as the percentage of procedures in which histology was obtained and resulted in a definitive histopathologic diagnosis. Secondary outcome measures included reported procedure-related adverse events, which were graded according to the AGREE (Adverse Events in Gastrointestinal Endoscopy) classification. Results: A total of 94 original articles were included. Studies were classified per endoscopic technique to obtain histopathology. This resulted in 8 included studies for endoscopic biopsy methods, 55 studies for EUS-FNA, 33 studies for EUS-FNB, and 26 studies for MIAB. Pooled rates for diagnostic yield were 40.6% (95% confidence interval [CI], 30.8-51.2) for endoscopic biopsy, 74.6% (95% CI, 69.9-78.7) for EUS-FNA, 84.2% (95% CI, 80.7-87.2) for EUS-FNB, and 88.2% (95% CI, 84.7-91.1) for MIAB. Reported procedure-related adverse events graded AGREE II or higher were 2.8% to 3.9% for endoscopic biopsies, 1.0% to 4.5% for EUS-FNA, .9% to 7.7% for EUS-FNB, and 1.9% to 7.9% for MIAB. Conclusions: Based on the available evidence, MIAB and EUS-FNB seem to be most effective in terms of achieving a high diagnostic yield, with similar rates of adverse events.

Published
2024

4. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, primary, Ockeloen, Charlotte W., additional, Kampen, Rosalie A., additional, Hampstead, Juliet E., additional, Dingemans, Alexander J.M., additional, Rots, Dmitrijs, additional, Lütje, Lukas, additional, Ashraf, Tazeen, additional, Baker, Rachel, additional, Barat-Houari, Mouna, additional, Angle, Brad, additional, Chatron, Nicolas, additional, Denommé-Pichon, Anne-Sophie, additional, Devinsky, Orrin, additional, Dubourg, Christèle, additional, Elmslie, Frances, additional, Elloumi, Houda Zghal, additional, Faivre, Laurence, additional, Fitzgerald-Butt, Sarah, additional, Geneviève, David, additional, Goos, Jacqueline A.C., additional, Helm, Benjamin M., additional, Kini, Usha, additional, Lasa-Aranzasti, Amaia, additional, Lesca, Gaetan, additional, Lynch, Sally A., additional, Mathijssen, Irene M.J., additional, McGowan, Ruth, additional, Monaghan, Kristin G., additional, Odent, Sylvie, additional, Pfundt, Rolph, additional, Putoux, Audrey, additional, van Reeuwijk, Jeroen, additional, Santen, Gijs W.E., additional, Sasaki, Erina, additional, Sorlin, Arthur, additional, van der Spek, Peter J., additional, Stegmann, Alexander P.A., additional, Swagemakers, Sigrid M.A., additional, Valenzuela, Irene, additional, Viora-Dupont, Eléonore, additional, Vitobello, Antonio, additional, Ware, Stephanie M., additional, Wéber, Mathys, additional, Gilissen, Christian, additional, Low, Karen J., additional, Fisher, Simon E., additional, Vissers, Lisenka E.L.M., additional, Wong, Maggie M.K., additional, and Kleefstra, Tjitske, additional

Published
2023
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5. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske, MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Neuroinformatics, Proteasome Endopeptidase Complex, [SDV]Life Sciences [q-bio], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Mutation, Missense, Genotype-phenotype study, enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES], Ossos - Malalties - Aspectes genètics, ANKRD11, All institutes and research themes of the Radboud University Medical Center, Missense variants, Intellectual Disability, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Genotype–phenotype study, Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES], Abnormalities, Multiple, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, Bone Diseases, Developmental, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Tooth Abnormalities, Neurodevelopmental disorders, Facies, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], KBG syndrome, Repressor Proteins, Anomalies cromosòmiques, Phenotype, enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], Chromosome Deletion, Dents - Malformacions - Aspectes genètics, Transcription Factors
Abstract

KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.

Published
2022
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6. Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis

Author

Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, Jeannette A.M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., and van den Ouweland, Ans M.W.

Published
2016
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7. Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis

Author

Barrell, William B., Adel Al-Lami, Hadeel, Goos, Jacqueline A.C., Swagemakers, Sigrid M.A., van Dooren, Marieke, Torban, Elena, van der Spek, Peter J., Mathijssen, Irene M.J., Liu, Karen J., Barrell, William B., Adel Al-Lami, Hadeel, Goos, Jacqueline A.C., Swagemakers, Sigrid M.A., van Dooren, Marieke, Torban, Elena, van der Spek, Peter J., Mathijssen, Irene M.J., and Liu, Karen J.

Abstract

Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development. The resulting changes in skull shape can lead to compression of the brain, causing severe complications. While we have some understanding of the molecular pathology of craniosynostosis, a large proportion of cases are of unknown genetic aetiology. Based on studies in mouse, we previously proposed that the ciliopathy gene Fuz should be considered a candidate craniosynostosis gene. Here, we report a novel variant of FUZ (c.851 G > C, p.(Arg284Pro)) found in monozygotic twins presenting with craniosynostosis. To investigate whether Fuz has a direct role in regulating osteogenic fate and mineralisation, we cultured primary osteoblasts and mouse embryonic fibroblasts (MEFs) from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation. This suggests that FUZ protein normally acts as a negative regulator of osteogenesis. We then used Fuz mutant MEFs, which lose functional primary cilia, to test whether the FUZ p.(Arg284Pro) variant could restore FUZ function during ciliogenesis. We found that expression of the FUZ p.(Arg284Pro) variant was sufficient to partially restore cilia numbers, but did not mediate a comparable response to Hedgehog pathway activation. Together, this suggests the osteogenic effects of FUZ p.(Arg284Pro) do not depend upon initiation of ciliogenesis.

Published
2022

8. Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis

Author

Choi, Tsun M., Kramer, Gem J.C., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Wolvius, Eppo B., Ongkosuwito, Edwin M., Choi, Tsun M., Kramer, Gem J.C., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Wolvius, Eppo B., and Ongkosuwito, Edwin M.

Abstract

Objectives: To determine whether dental maturity (dental development) was delayed in patients with Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis, compared with a Dutch control group without syndromes. Materials and methods: This study included 60 patients (38 patients with Muenke syndrome, 17 patients with Saethre-Chotzen syndrome, and 5 with TCF12-related craniosynostosis), aged 5.8-16.8 years that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care, and Orthodontics, in Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, the Netherlands. Dental age was calculated according to Demirjian's index of dental maturity. The control group included 451 children without a syndrome. Results: Compared with the control group, dental development was delayed by an average of one year in 5-to 8-year-old patients with Muenke syndrome (P = 0.007) and in 8-to 10-year-old patients with Saethre-Chotzen syndrome (P = 0.044), but not in patients with TCF12-related craniosynostosis. Conclusions: Our results indicated that dental development was delayed by one year, on average, in patients with Muenke syndrome and Saethre-Chotzen syndrome, compared with a Dutch control group without syndromes. Implications: Our findings have improved the understanding of dental development in patients with Muenke and Saethre-Chotzen syndrome. These results can provide guidance on whether the orthodontist needs to consider growth disturbances related to dental development.

Published
2022

9. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske

Abstract

Although haploinsufficiency of ANKRD11is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11missense variants.

Published
2022
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10. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Author

Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., The Deciphering Developmental Disorders Study, MUMC+: DA KG Polikliniek (9), Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, and MUMC+: DA Klinische Genetica (5)

Subjects
Male, RNA, Messenger/genetics, Adult, GENES, Adolescent, kinase, Protein Kinases/genetics, Neurodevelopmental Disorders/genetics, Translocation, Genetic, Cell Line, Loss of Function Mutation/genetics, Young Adult, Genetics, Humans, Genetics(clinical), Child, Genetic Association Studies, Tousled-like, Base Sequence, TOUSLED-LIKE KINASES, MUTATIONS, Infant, Facies, haploinsufficiency, Inheritance Patterns/genetics, intellectual disability, Child, Preschool, Female, facial averaging
Abstract

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.

Published
2018

11. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Author

Calpena, Eduardo, primary, Hervieu, Alexia, additional, Kaserer, Teresa, additional, Swagemakers, Sigrid M.A., additional, Goos, Jacqueline A.C., additional, Popoola, Olajumoke, additional, Ortiz-Ruiz, Maria Jesus, additional, Barbaro-Dieber, Tina, additional, Bownass, Lucy, additional, Brilstra, Eva H., additional, Brimble, Elise, additional, Foulds, Nicola, additional, Grebe, Theresa A., additional, Harder, Aster V.E., additional, Lees, Melissa M., additional, Monaghan, Kristin G., additional, Newbury-Ecob, Ruth A., additional, Ong, Kai-Ren, additional, Osio, Deborah, additional, Reynoso Santos, Francis Jeshira, additional, Ruzhnikov, Maura R.Z., additional, Telegrafi, Aida, additional, van Binsbergen, Ellen, additional, van Dooren, Marieke F., additional, van der Spek, Peter J., additional, Blagg, Julian, additional, Twigg, Stephen R.F., additional, Mathijssen, Irene M.J., additional, Clarke, Paul A., additional, and Wilkie, Andrew O.M., additional

Published
2019
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12. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Author

Genetica, Genetica Klinische Genetica, Child Health, Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., The Deciphering Developmental Disorders Study, Genetica, Genetica Klinische Genetica, Child Health, Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., and The Deciphering Developmental Disorders Study

Published
2018

15. Identification of Intragenic Exon Deletions and Duplication ofTCF12by Whole Genome or Targeted Sequencing as a Cause ofTCF12-Related Craniosynostosis

Author

Goos, Jacqueline A.C., primary, Fenwick, Aimee L., additional, Swagemakers, Sigrid M.A., additional, McGowan, Simon J., additional, Knight, Samantha J.L., additional, Twigg, Stephen R.F., additional, Hoogeboom, A. Jeannette M., additional, van Dooren, Marieke F., additional, Magielsen, Frank J., additional, Wall, Steven A., additional, Mathijssen, Irene M.J., additional, Wilkie, Andrew O.M., additional, van der Spek, Peter J., additional, and van den Ouweland, Ans M.W., additional

Published
2016
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16. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske

Published
2023
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17. Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Author

Twigg, Stephen R.F., primary, Forecki, Jennifer, additional, Goos, Jacqueline A.C., additional, Richardson, Ivy C.A., additional, Hoogeboom, A. Jeannette M., additional, van den Ouweland, Ans M.W., additional, Swagemakers, Sigrid M.A., additional, Lequin, Maarten H., additional, Van Antwerp, Daniel, additional, McGowan, Simon J., additional, Westbury, Isabelle, additional, Miller, Kerry A., additional, Wall, Steven A., additional, van der Spek, Peter J., additional, Mathijssen, Irene M.J., additional, Pauws, Erwin, additional, Merzdorf, Christa S., additional, and Wilkie, Andrew O.M., additional

Published
2015
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