Impact of integrated translational research on clinical exome sequencing.

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.

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Autor: Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY, USA., Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Thomas A; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Stong N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Mulhern MS; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Akman CI; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA., Heinzen EL; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Yeh R; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chong JSC; Joint CUHK-Baylor Center of Medical Genetics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China., Bend R; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Lee JA; Greenwood Genetic Center, Greenwood, SC, USA., Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, MD, USA., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Nava C; Department of Genetics, APHP Sorbonne University, Paris, France., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France.; Reference Center for Intellectual Disabilities of Rare Causes, Paris, France., Mathieu S; Department of Neuropediatrics, APHP Sorbonne University, Trousseau Hospital, Paris, France., Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, The Netherlands., Madan-Khetarpal S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Infante EM; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Bluvstein J; School of Medicine, New York University, New York, NY, USA., Seeley A; Geisinger Medical Center, Danville, PA, USA., Bachman K; Geisinger Medical Center, Danville, PA, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA., Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA., Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Barnett S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ellingson MS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Clinical Genome Sequencing Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland., Joset P; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland., Sheehan T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Vasquez A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN, USA., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Sands TT; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA., Aggarwal V; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.

Publikováno v: Epilepsia [Epilepsia] 2021 Jul; Vol. 62 (7), pp. e103-e109. Date of Electronic Publication: 2021 May 26.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Autor: Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Nardini N; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Caliebe A; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany., Nagel I; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.; Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada., Horvath G; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada., Santoro SL; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA., Shuss C; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA., Ziegler A; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France., Bonneau D; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France., Kempers M; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Legius E; Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Le Guyader G; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France., Schnelle HM; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Zonneveld-Huijssoon E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Kersten S; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Dhamija R; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK., Lichtenbelt KD; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Ella Pierpont M; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA., Khattar D; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Martin RJ; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Jongmans MCJ; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Chang VY; Division of Pediatric Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA.; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA., Kuismin O; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Kurki MI; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pietiläinen O; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA., Palotie A; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Johnson DS; Sheffield Children's Hospital, Sheffield, UK., Venborg Pedersen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Laulund LW; Department of Pediatrics, Odense University Hospital, Odense, Denmark., Lynch SA; University College Dublin and Temple Street Children's Hospital, Dublin, Ireland., Blyth M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Ibitoye R; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Van Esch H; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. christiane.zweier@uk-erlangen.de.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Dec; Vol. 21 (12), pp. 2723-2733. Date of Electronic Publication: 2019 Jun 26.

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Autor: Goetz MP; Medical Oncology, Mayo Clinic, Rochester, MN, USA.; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA., Kalari KR; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Suman VJ; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Moyer AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Yu J; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA., Visscher DW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Dockter TJ; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Vedell PT; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Sinnwell JP; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Tang X; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Thompson KJ; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., McLaughlin SA; Department of Surgery, Mayo Clinic, Jacksonville, FL, USA., Moreno-Aspitia A; Hematology/Oncology, Mayo Clinic, Jacksonville, FL, USA., Copland JA; Department of Cancer Biology, Mayo Clinic, Jacksonville, FL, USA., Northfelt DW; Hematology/Oncology, Mayo Clinic, Scottsdale, AZ, USA., Gray RJ; Department of Surgery, Mayo Clinic, Scottsdale, AZ, USA., Hunt K; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Conners A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Sicotte H; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Eckel-Passow JE; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Kocher JP; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Ingle JN; Medical Oncology, Mayo Clinic, Rochester, MN, USA., Ellingson MS; Department of Radiology, Mayo Clinic, Rochester, MN, USA., McDonough M; Department of Surgery, Mayo Clinic, Scottsdale, AZ, USA., Wieben ED; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Weinshilboum R; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Wang L; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA., Boughey JC; Department of Surgery, Mayo Clinic, Rochester, MN, USA.

Publikováno v: Journal of the National Cancer Institute [J Natl Cancer Inst] 2017 Jul 01; Vol. 109 (7).

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

Autor: Ellingson MS; Center for Individualized Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA., Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP

Publikováno v: Breast cancer research and treatment [Breast Cancer Res Treat] 2015 Sep; Vol. 153 (2), pp. 435-43. Date of Electronic Publication: 2015 Aug 22.