Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Boers RG"'
Autor:
van Bever Y; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.; Erasmus MC Center of Expertise for DSD, Sophia Children's Hospital, Rotterdam, The Netherlands., Boers RG; Department of Developmental Biology, Erasmus MC, Rotterdam, The Netherlands., Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.; Erasmus MC Center of Expertise for DSD, Sophia Children's Hospital, Rotterdam, The Netherlands., van IJcken WF; Center for Biomics, Erasmus MC, Rotterdam, The Netherlands.; Department of Cell biology, Erasmus MC, Rotterdam, Netherlands., Magielsen FJ; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands., Boers JB; Department of Developmental Biology, Erasmus MC, Rotterdam, The Netherlands., Looijenga LH; Princess Máxima Center for Pediatric Oncology, Utrecht, and Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands., Brosens E; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands., Gribnau J; Department of Developmental Biology, Erasmus MC, Rotterdam, The Netherlands., Hannema SE; Erasmus MC Center of Expertise for DSD, Sophia Children's Hospital, Rotterdam, The Netherlands.; Department of Paediatric Endocrinology, Amsterdam University Medical Centers, Location Vrije Universiteit, Amsterdam, The Netherlands.
Publikováno v:
Epigenetics [Epigenetics] 2024 Dec; Vol. 19 (1), pp. 2392048. Date of Electronic Publication: 2024 Aug 16.
Autor:
Giannini LAA; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Boers RG; Department of Developmental Biology, Erasmus Medical Center, Rotterdam, The Netherlands., van der Ende EL; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Poos JM; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Jiskoot LC; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Boers JB; Department of Developmental Biology, Erasmus Medical Center, Rotterdam, The Netherlands., van IJcken WFJ; Erasmus Center for Biomics, Erasmus University Medical Center, Rotterdam, The Netherlands., Dopper EG; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Pijnenburg YAL; Alzheimer Center Amsterdam, Neurology, Vrije Universiteit, Amsterdam UMC location Vumc, Amsterdam, The Netherlands.; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands., Seelaar H; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Meeter LH; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., van Rooij JGJ; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands., Scheper W; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Faculty of Science, Vrije Universiteit, Amsterdam, The Netherlands.; Department of Human Genetics, Vrije Universiteit, Amsterdam UMC location Vumc, Amsterdam, The Netherlands., Gribnau J; Department of Developmental Biology, Erasmus Medical Center, Rotterdam, The Netherlands., van Swieten JC; Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 744-756. Date of Electronic Publication: 2024 Mar 13.
Autor:
Fu S; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, 3015 CN Rotterdam, The Netherlands., Deger T; Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center, 3015 GD Rotterdam, The Netherlands., Boers RG; Department of Developmental Biology, Erasmus MC, University Medical Center, 3015 GD Rotterdam, The Netherlands., Boers JB; Department of Developmental Biology, Erasmus MC, University Medical Center, 3015 GD Rotterdam, The Netherlands., Doukas M; Department of Pathology, Erasmus MC, University Medical Center, 3000 CA Rotterdam, The Netherlands., Gribnau J; Department of Developmental Biology, Erasmus MC, University Medical Center, 3015 GD Rotterdam, The Netherlands., Wilting SM; Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center, 3015 GD Rotterdam, The Netherlands., Debes JD; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, 3015 CN Rotterdam, The Netherlands.; Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA., Boonstra A; Department of Gastroenterology and Hepatology, Erasmus MC, University Medical Center, 3015 CN Rotterdam, The Netherlands.
Publikováno v:
Cancers [Cancers (Basel)] 2023 Sep 28; Vol. 15 (19). Date of Electronic Publication: 2023 Sep 28.
Autor:
Eikenboom EL; Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.; Department of Gastroenterology & Hepatology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Wilting SM; Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Deger T; Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Van Veghel-Plandsoen M; Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Boers RG; Department of Developmental Biology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands., Boers JB; Department of Developmental Biology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands., van IJcken WFJ; Center for Biomics, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands., Gribnau JH; Department of Developmental Biology, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands., Atmodimedjo P; Department of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Dubbink HJ; Department of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Martens JWM; Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Spaander MCW; Department of Gastroenterology & Hepatology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.
Publikováno v:
Cancers [Cancers (Basel)] 2023 Sep 17; Vol. 15 (18). Date of Electronic Publication: 2023 Sep 17.
Autor:
Bos MK; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Verhoeff SR; Department of Medical Oncology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Oosting SF; Department of Medical Oncology, University Medical Centre Groningen, 9713 GZ Groningen, The Netherlands., Menke-van der Houven van Oordt WC; Department of Medical Oncology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands., Boers RG; Department of Developmental Biology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands., Boers JB; Department of Developmental Biology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands., Gribnau J; Department of Developmental Biology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands., Martens JWM; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., Sleijfer S; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands., van Herpen CML; Department of Medical Oncology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Wilting SM; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, 3015 GD Rotterdam, The Netherlands.
Publikováno v:
Cancers [Cancers (Basel)] 2023 Feb 21; Vol. 15 (5). Date of Electronic Publication: 2023 Feb 21.
Autor:
Mira-Bontenbal H; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands. Electronic address: h.mirabontenbal@erasmusmc.nl., Tan B; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands., Gontan C; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands., Goossens S; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands., Boers RG; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands., Boers JB; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands., Dupont C; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands., van Royen ME; Department of Pathology, Erasmus MC, Rotterdam, the Netherlands., IJcken WFJ; Center for Biomics, Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands., French P; Department of Neurology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, the Netherlands., Bedalov A; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA 98109, USA., Gribnau J; Oncode Institue, Department of Developmental Biology, Erasmus MC, Rotterdam, the Netherlands. Electronic address: j.gribnau@erasmusmc.nl.
Publikováno v:
Stem cell reports [Stem Cell Reports] 2022 Mar 08; Vol. 17 (3), pp. 693-706. Date of Electronic Publication: 2022 Feb 10.
Autor:
Deger T; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Boers RG; Department of Developmental Biology, Erasmus Medical Center, Rotterdam, Netherlands., de Weerd V; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Angus L; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., van der Put MMJ; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Boers JB; Department of Developmental Biology, Erasmus Medical Center, Rotterdam, Netherlands., Azmani Z; Center for Biomics, Erasmus Medical Center, Rotterdam, Netherlands., van IJcken WFJ; Center for Biomics, Erasmus Medical Center, Rotterdam, Netherlands., Grünhagen DJ; Department of Oncologic Surgery, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., van Dessel LF; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Lolkema MPJK; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Verhoef C; Department of Oncologic Surgery, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Sleijfer S; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Martens JWM; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands., Gribnau J; Department of Developmental Biology, Erasmus Medical Center, Rotterdam, Netherlands., Wilting SM; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, Netherlands. s.wilting@erasmusmc.nl.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2021 Oct 20; Vol. 13 (1), pp. 196. Date of Electronic Publication: 2021 Oct 20.
Autor:
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada., Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands., Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada., Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy., Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., McWalter K; GeneDx, Gaithersburg, MD 20877, USA., Desai M; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France., Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France., Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA., Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA., Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA., Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA., Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada., MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada., Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA., Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil., Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil., Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil., Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy., Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy., Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy., Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France., Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France., Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland., Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel., Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel., Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada., Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada., Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA., de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands., Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands., Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK., Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK., Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK., Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA., Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA., Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA., Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA., Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA., Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA., Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy., Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy., Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy., Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA., Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden., Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands., Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands., Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands., Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands., Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands., Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA., Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland., Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy., Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands., Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA., Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France., Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy., Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Autor:
Adrianse RL; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA, 98109, USA., Smith K; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA, 98109, USA., Gatbonton-Schwager T; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA, 98109, USA., Sripathy SP; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA, 98109, USA., Lao U; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA, 98109, USA., Foss EJ; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA, 98109, USA., Boers RG; Department of Developmental Biology, Erasmus MC, 3015 CN, Rotterdam, The Netherlands.; Department of Obstetrics and Gynaecology, Erasmus MC, 3015 CN, Rotterdam, The Netherlands., Boers JB; Department of Developmental Biology, Erasmus MC, 3015 CN, Rotterdam, The Netherlands.; Delft Diagnostic Laboratories, 2288 ER, Rijswijk, The Netherlands., Gribnau J; Department of Developmental Biology, Erasmus MC, 3015 CN, Rotterdam, The Netherlands., Bedalov A; Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue N., Seattle, WA, 98109, USA. abedalov@fredhutch.org.; Department of Biochemistry, University of Washington, Seattle, WA, 98195, USA. abedalov@fredhutch.org.; Department of Medicine, University of Washington, Seattle, WA, 98195, USA. abedalov@fredhutch.org.
Publikováno v:
Epigenetics & chromatin [Epigenetics Chromatin] 2018 Aug 31; Vol. 11 (1), pp. 50. Date of Electronic Publication: 2018 Aug 31.