Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Kaiwar C"'
Autor:
Wolking, S, May, P, Mei, D, Møller, RS, Balestrini, S, Helbig, KL, Altuzarra, CD, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, BA, Numis, A, Cilio, MR, Van Paesschen, W, Svendsen, LL, Oates, S, Hughes, E, Goyal, S, Brown, K, Saenz, M, Dorn, T, Muhle, H, Pagnamenta, AT, Vavoulis, DV, Knight, SJL, Taylor, JC, Canevini, MP, Darra, F, Gavrilova, RH, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, EW, Kluger, GJ, Lowenstein, DH, Weckhuysen, S, Pal, DK, Helbig, I, Guerrini, R, Thomas, RH, Rees, MI, Lesca, G, Sisodiya, SM, Weber, YG, Lal, D, Marini, C, Lerche, H, Schubert, J
Publikováno v:
Wolking, S, May, P, Mei, D, Møller, R S, Balestrini, S, Helbig, K L, Altuzarra, C D, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, B A, Numis, A, Cilio, M R, Van Paesschen, W, Svendsen, L L, Oates, S, Hughes, E, Goyal, S, Brown, K, Sifuentes Saenz, M, Dorn, T, Muhle, H, Pagnamenta, A T, Vavoulis, D V, Knight, S J L, Taylor, J C, Canevini, M P, Darra, F, Gavrilova, R H, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, E W, Kluger, G J, Lowenstein, D H, Weckhuysen, S, Pal, D K, Helbig, I, Guerrini, R, Thomas, R H, Rees, M I, Lesca, G, Sisodiya, S M, Weber, Y G, Lal, D, Marini, C, Lerche, H & Schubert, J 2019, ' Clinical spectrum of STX1B-related epileptic disorders ', Neurology, vol. 92, no. 11, pp. e1238-e1249 . https://doi.org/10.1212/WNL.0000000000007089
Neurology
Neurology
OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::64082d157eff5d0457b6e34c87e55deb
http://ora.ox.ac.uk/objects/uuid:
http://ora.ox.ac.uk/objects/uuid:
Autor:
Ferrer A; Division of Hematology, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Duffy P; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Meiners MA; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Schultz-Rogers L; Department of Pathology and Lab Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Macke EL; The Institute of Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Safgren S; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Morales-Rosado JA; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Oliver GR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Rider D; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Williams M; Bioinformatics Systems, Information Technology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Deyle DR; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Dhamija R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lanpher BC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kaiwar C; Children's Hospital Colorado, Aurora, CO, USA., Vitek CR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., McAllister TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Wick MJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Departments of Otorhinolaryngology, Head and Neck Surgery, Ophthalmology, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Lazaridis KN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA., Vairo FPE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Klee.Eric@mayo.edu.
Publikováno v:
Human genetics [Hum Genet] 2024 May; Vol. 143 (5), pp. 649-666. Date of Electronic Publication: 2024 Mar 27.
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.
Autor:
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100359.
Autor:
Klee EW; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu., Cousin MA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Pinto E Vairo F; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Morales-Rosado JA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Macke EL; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Jenkinson WG; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Ferrer A; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Schultz-Rogers LE; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Olson RJ; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Oliver GR; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Sigafoos AN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Schwab TL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Urrutia RA; Division of Research, Department of Surgery and the Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA., Gupta A; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Blackburn PR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Boczek NJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Prochnow CA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Lowy RJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Mulvihill LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., McAllister TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Aoudia SL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Kruisselbrink TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kemppainen JL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Fisher LJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Tarnowski JM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hager MM; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA., Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Macklin-Mantia SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Rust LM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Summer Bolster JM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Beck SA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA., Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Lahner CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Niu Z; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Clark KJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Deyle DR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Morava-Kozicz E; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Gavrilova RH; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Dhamija R; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA., Lanpher BC; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Babovic-Vuksanovic D; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Farrugia G; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Stewart AK; Princess Margaret Cancer Centre, Toronto, ON, Canada., Lazaridis KN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. Lazaridis.Konstantinos@mayo.edu.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA. Lazaridis.Konstantinos@mayo.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 498-507. Date of Electronic Publication: 2020 Nov 04.
Autor:
Ferrer A; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA., Schultz-Rogers L; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA., Kaiwar C; Invitae Corporation, San Francisco, California 94103, USA., Kemppainen JL; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2019 Dec 13; Vol. 5 (6). Date of Electronic Publication: 2019 Dec 13 (Print Publication: 2019).
Autor:
Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ 85259., Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905., Kudva YC; Transplant Center, Mayo Clinic, Rochester, MN 55905; Department of Endocrinology, College of Medicine, Mayo Clinic, Rochester, MN 55905., Klee EW; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN 55905; Department of Clinical Genomics, College of Medicine, Mayo Clinic, Rochester, MN 55905; Department of Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, MN 55905., Pichurin P; Department of Clinical Genomics, College of Medicine, Mayo Clinic, Rochester, MN 55905. Electronic address: Pichurin.pavel@mayo.edu.
Publikováno v:
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2019 Oct; Vol. 207, pp. 55-57. Date of Electronic Publication: 2018 Sep 30.
Autor:
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van der Werf IM; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Innes AM; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada., Afenjar A; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75013, Paris, France.; APHP, GHUEP, Hôpital Armand Trousseau, Centre de Référence 'Malformations et maladies congénitales du cervelet', 75012, Paris, France., Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Anderson IJ; The University of Tennessee Genetics Center, Knoxville, TN, 37920, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Castiglia L; Laboratory of Medical Genetics, Oasi Research Institute, 94018, Troina, Italy., Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., van Dijck A; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Doummar D; APHP, Service de Neurologie pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université,GRC ConCer-LD, AP-HP, Hôpital Trousseau, Paris, France.; Service de neuropediatrie, Hôpital Trousseau, 26 avenue du dr Arnold Netter, 75012, Paris, France., van Eerde AM; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., van Gassen KL; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, 20877, USA., van Haelst MM; Department of Clinical Genetics, VU University Medical Center, 1081 HV, Amsterdam, The Netherlands., Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, 11724, USA.; New York Genome Center, New York, NY, 10013, USA., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., Judd E; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, 63110, USA., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA.; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., Meuwissen ME; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA., de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Université de Paris 06, 75013, Paris, France., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pettinato R; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Racher H; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Impact Genetics, 1100 Bennett Road, Bowmanville, ON, L1C 3K5, Canada., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Romano C; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Sanders VR; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL, 60611, USA., Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA., Smeets EJ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950 Nydalen, 0424, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway., Sweetser DA; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., VanNoy GE; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Waxler JL; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Willing M; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, 63110, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Kooy RF; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. bert.devries@radboudumc.nl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 May; Vol. 27 (5), pp. 738-746. Date of Electronic Publication: 2019 Jan 24.
Autor:
Morales-Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona., Smith BE; Department of Neurology, Mayo Clinic, Mayo Clinic, Scottsdale, Arizona., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Dhamija R; Department of Neurology, Mayo Clinic, Mayo Clinic, Scottsdale, Arizona.; Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2846-2849. Date of Electronic Publication: 2018 Dec 14.
Autor:
Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona 85259, USA., Zimmermann MT; Department of Health Sciences Research, Mayo Clinic, Division of Biomedical Statistic and Informatics, Rochester, Minnesota 55905, USA., Ferber MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA., Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA., Urrutia RA; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.; Department of Medicine, Gastroenterology Research Unit, Mayo Clinic, Rochester, Minnesota 55905, USA., Klee EW; Department of Health Sciences Research, Mayo Clinic, Division of Biomedical Statistic and Informatics, Rochester, Minnesota 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota 55905, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
Publikováno v:
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2017 Nov 21; Vol. 3 (6). Date of Electronic Publication: 2017 Nov 21 (Print Publication: 2017).