Insurance denials and diagnostic rates in a pediatric genomic research cohort.

Autor: Zion TN; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO. Electronic address: tnzion@cmh.edu., Berrios CD; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Cohen ASA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Bartik L; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; University of Kansas Medical Center, School of Professional Health Sciences, Kansas City, MO., Cross LA; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Engleman KL; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fleming EA; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Gadea RN; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Hughes SS; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jenkins JL; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Kussmann J; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Lawson C; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Schwager C; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Strenk ME; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Welsh H; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Rush ET; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Internal Medicine, University of Kansas Medical Center, Kansas City, MO., Amudhavalli SM; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Sullivan BR; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Zhou D; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Gannon JL; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Heese BA; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Moore R; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Boillat E; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Biswell RL; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Louiselle DA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Puckett LMB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Beyer S; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Neal SH; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Sierant V; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., McBeth M; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Belden B; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Walter AM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Gibson M; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Cheung WA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Johnston JJ; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Thiffault I; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Farrow EG; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Grundberg E; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO., Pastinen T; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 May; Vol. 25 (5), pp. 100020. Date of Electronic Publication: 2023 Jan 28.

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

Autor: Cohen ASA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Farrow EG; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Abdelmoity AT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Amudhavalli SM; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Anderson JT; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Bansal L; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Bartik L; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Baybayan P; Pacific Biosciences of California, Inc, Menlo Park, CA., Belden B; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Berrios CD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Biswell RL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Buczkowicz P; PhenoTips, Toronto, Canada., Buske O; PhenoTips, Toronto, Canada., Chakraborty S; Pacific Biosciences of California, Inc, Menlo Park, CA., Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Coffman KA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cooper AM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cross LA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Curran T; Children's Mercy Research Institute, Kansas City, MO., Dang TTT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Elfrink MM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Engleman KL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Fecske ED; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fieser C; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fitzgerald K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fleming EA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gadea RN; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gannon JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gelineau-Morel RN; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Gibson M; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Goldstein J; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Grundberg E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Halpin K; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Harvey BS; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Heese BA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Hein W; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Herd SM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Hughes SS; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Ilyas M; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jacobson J; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jenkins JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Jiang S; Bionano Genomics, Inc, San Diego, CA., Johnston JJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Keeler K; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Korlach J; Pacific Biosciences of California, Inc, Menlo Park, CA., Kussmann J; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Lambert C; Pacific Biosciences of California, Inc, Menlo Park, CA., Lawson C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Le Pichon JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Leeder JS; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Little VC; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Louiselle DA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Lypka M; Bionano Genomics, Inc, San Diego, CA., McDonald BD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Miller N; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Allergy Immunology Pulmonary and Sleep Medicine, Children's Mercy Kansas City, Kansas City, MO., Modrcin A; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Nair A; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Neal SH; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Oermann CM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Pacicca DM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Pawar K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Posey NL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Price N; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Puckett LMB; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Quezada JF; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Raje N; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Neonatology, Children's Mercy Kansas City, Kansas City, MO., Rowell WJ; Pacific Biosciences of California, Inc, Menlo Park, CA., Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, MO., Sampath V; Division of Neonatology, Children's Mercy Hospital Kansas City, Kansas City, MO., Saunders CJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO., Schwager C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Schwend RM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Shaffer E; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Smail C; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Soden S; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Strenk ME; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sweeney BR; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Tam-Williams JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Walter AM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Welsh H; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Wenger AM; Pacific Biosciences of California, Inc, Menlo Park, CA., Willig LK; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Yan Y; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Younger ST; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Zhou D; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Zion TN; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO. Electronic address: ithiffault@cmh.edu., Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Children's Mercy Research Institute, Kansas City, MO. Electronic address: tpastinen@cmh.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1336-1348. Date of Electronic Publication: 2022 Mar 16.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Autor: den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Voisin N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Dingemans AJM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Guex N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland., Wiel L; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Center for Molecular and Biomolecular Informatics of the Radboudumc, 6500 HB Nijmegen, the Netherlands., Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK., Amudhavalli SM; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Banka S; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Bena FS; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland., Ben-Zeev B; Edmomd and Lilly Safra Pediatric Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel., Bonagura VR; Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA., Bruel AL; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France., Brunet T; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany., Brunner HG; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, PO Box 5800, 6202AZ Maastricht, the Netherlands., Chew HB; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia., Chrast J; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Cimbalistienė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania., Coon H; Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA., Délot EC; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA., Démurger F; Department of clinical genetics, Vannes hospital, 56017 Vannes, France., Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany., Donnai D; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada., Elpeleg O; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel., Faivre L; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Granger L; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA., Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hachiya Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan., Abedi YH; Division of Allergy and Immunology, Northwell Health, Great Neck, NY 11021, USA; Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA., Hanebeck J; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, the Netherlands., Horist B; Pediatrics & Genetics, Alpharetta, GA 30005, USA., Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Jackson A; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK., Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK., Jones KL; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Kashii H; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo 142-8666, Japan., Kattentidt-Mouravieva AA; Zuidwester, 3240AA Middelharnis, the Netherlands., Kok F; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil; University of Sao Paulo, School of Medicine, Sao Paulo, SP 01246-903, Brazil., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Krishnamurthy V; Pediatrics & Genetics, Alpharetta, GA 30005, USA., Kučinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania., Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany., Lavillaureix A; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Manwaring L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Meiner V; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel., Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan., Moey LH; Department of Genetics, Penang General Hospital, Jalan Residensi, 10990 Georgetown, Penang, Malaysia., Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel., Mountford H; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK., Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK., Odent S; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France., Orec L; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada., Palculict TB; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Parker M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S5 7AU, UK., Petersen AK; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA., Pfundt R; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands., Preikšaitienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania., Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA 92656, USA., Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Santiago-Sim T; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Schwager C; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, 6229 ER Maastricht, the Netherlands., Snijders Blok L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713, USA., Stegmann APA; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands., Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Tran L; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA., Vaknin-Dembinsky A; Department of Neurology and Laboratory of Neuroimmunology, The Agnes Ginges Center for Neurogenetics, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, 91120 Jerusalem, Israel., Vedovato-Dos-Santos JH; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil., Schrier Vergano SA; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA., Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA., Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France., Wagner M; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany., Waheeb A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Willing M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA., Zuccarelli B; The University of Kansas School of Medicine Salina Campus, Salina, KS 67401, USA., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Newbury DF; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK., Kleefstra T; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands., Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands. Electronic address: simon.fisher@mpi.nl., Vissers LELM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Feb 04; Vol. 108 (2), pp. 346-356. Date of Electronic Publication: 2021 Jan 28.

Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.

Autor: Porath B; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri., Farooki S; Division of Hematology, Oncology and Bone Marrow Transplant, Children's Mercy Hospital, Kansas City, Missouri., Gener M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri., Amudhavalli SM; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri., Grote L; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri., Cooley LD; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri., Ginn K; Division of Hematology, Oncology and Bone Marrow Transplant, Children's Mercy Hospital, Kansas City, Missouri., Farooqi MS; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri.

Publikováno v: Clinical genetics [Clin Genet] 2020 Apr; Vol. 97 (4), pp. 670-671. Date of Electronic Publication: 2019 Dec 11.

Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.

Autor: Repnikova E; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri.; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Roberts J; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri., Kats A; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri.; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Habeebu S; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri.; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri., Schwager C; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri., Joyce J; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri., Manalang M; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri.; Division of Hematology/Oncology, Children's Mercy Hospital, Kansas City, Missouri., Amudhavalli SM; School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri.

Publikováno v: Clinical genetics [Clin Genet] 2018 Dec; Vol. 94 (6), pp. 564-568. Date of Electronic Publication: 2018 Sep 07.