MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Autor: Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodríguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-González, AM, Cuscó, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R

Publikováno v: Clinical Genetics; Dec2013, Vol. 84 Issue 6, p539-545, 7p

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Autor: van der Laan L; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Lauffer P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Silva A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy., Huisman SA; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Zodiak, Prinsenstichting, Purmerend, the Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Baysal Ö; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Zweier C; Department of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany; Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany., Szakszon K; Institute of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD «Génétique des Anomalies du Développement», FHUTRANSLAD, Dijon, France; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLDAD, Dijon, France., Piton A; Genetic Diagnosis Laboratories, Strasbourg University Hospital, Strasbourg 67000, France., Mesman S; Swammerdam Institute for Life Sciences, FNWI, University of Amsterdam, Amsterdam, the Netherlands., Hochstenbach R; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Elting MW; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Mannens MMAM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Alders M; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Haelst MM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy., Henneman P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Sweetser DA; Division of Medical Genetics and Metabolism and Center for Genomic Medicine, Massachusetts General for Children, Boston, MA, USA., Sadikovic B; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Menke LA; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands. Electronic address: l.a.menke@amsterdamumc.nl.

Publikováno v: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100289. Date of Electronic Publication: 2024 Apr 02.

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Autor: Szakszon K; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary szakszon.katalin@med.unideb.hu.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary., Lourenco CM; Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil., Callewaert BL; Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, France.; Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France., Rouxel F; Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France., Morin D; Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France., Denommé-Pichon AS; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Vitobello A; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Patterson WG; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA., Louie R; Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Pinto E Vairo F; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Klee E; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Kaiwar C; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Gavrilova RH; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Agre KE; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Jacquemont S; Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Khadijé J; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Giltay J; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Merő G; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary., Gerkes E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands., Caluseriu O; Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Khelifa MM; Department of Human Genetics, Medical College Hannover, Hannover, Germany., Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain., Martorell AC; Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Endocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain., Ramachandrappa S; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK., Sawyer LB; Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Fasel P; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Isis A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., McNiven V; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada., Ahmed SA; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada., Brennenstuhl H; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibolf EM; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Battisti G; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Parmentier B; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Stevens SJC; Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 132-141. Date of Electronic Publication: 2024 Jan 19.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Autor: Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA., Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands., Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland., Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland., Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland., Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy., Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada., Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rommelaere S; Global Health Institute, School of Life Sciences and., Bocquete JP; Global Health Institute, School of Life Sciences and., Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands., Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Soli F; Medical Genetics Department, APSS Trento, Trento, Italy., Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China., Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain., Armengol L; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom., Cooper NS; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom., Wilson V; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Herenger Y; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tran Mau-Them F; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Maddocks AB; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Bhat MA; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Champaigne NL; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Richardson EB; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gupta Y; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lemaitre B; Global Health Institute, School of Life Sciences and., Yamaji T; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Hanada K; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada., Jakšić AM; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., McCabe BD; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., De Los Rios P; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., D'Angelo G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and., Gennarino VA; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Autor: van Woerden GM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Senden R; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., de Konink C; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Trezza RA; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Baban A; Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bassetti JA; Division of Medical Genetics, Weill Cornell Medicine, New York City, New York, USA., van Bever Y; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Guan Q; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Klee EW; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rosado JM; Division of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Schimmenti LA; Department of Otorhinolaryngology Head and Neck Surgery, Ophthalmology, Clinical Genomics, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Shikany AR; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Nicole Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Wessels MW; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., van Wieringen H; Department of Pediatrics, St. Antonius Hospital, Nieuwegein, The Netherlands., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gooch CF; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland., Joset P; Department of Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren, Switzerland., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Department of Pediatrics, Sapienza University, Rome, Italy., Elgersma Y; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.

Publikováno v: Human mutation [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1377-1395. Date of Electronic Publication: 2022 Jul 29.