부산대학교 도서관

Tripathi, Swarnendu; Dsouza, Nikita R; Urrutia, Raul; Zimmermann, Michael T

Bioinformatics. 5/15/2021, Vol. 37 Issue 10, p1367-1375. 9p.

Dsouza NR; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Haque N; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Tripathi S; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Zimmermann MT; Computational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Data Science Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Gong M; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; The Ninth Medical Center of PLA General Hospital, Beijing, China.; Li J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.; Qin Z; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Machado Bressan Wilke MV; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Liu Y; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China.; Li Q; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China.; Liu H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.; Liang C; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.; Morales-Rosado JA; Department of Pathology, Microbiology & Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.; Cohen ASA; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Hughes SS; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Sullivan BR; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Waddell V; Department of Neurology, Children's Mercy Kansas City, Kansas City, MO, USA.; van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; van Gassen KL; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands.; Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Autism Research Center, Peking University Health Science Center, Beijing, China; Neuroscience Research Institute, Peking University, Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Zhao J; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China.; Feng W; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China.; Ren C; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China.; Yu Y; Department of Pediatrics, Beijing Tiantan Hospital affiliated with Capital University of Medical Sciences, Beijing, China.; Boczek NJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.; Ferber MJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.; Lahner C; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.; Elliott S; Departments of Neurology and Pediatrics, Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Ruan Y; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Keren B; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Xie H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China.; Wang X; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China.; Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany; Berlin Institute of Health at Charité-Universitäts medizin Berlin, Center of Functional Genomics, Hessische Straße 4A, Berlin, Germany.; Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex, Dijon, France.; Mau-Them FT; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France.; Safraou H; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France.; Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Gauthier J; Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada.; Michaud JL; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; CHU Sainte-Justine Research Center, Montreal, QC, Canada.; Koboldt DC; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Sylvie O; Service de Génétique clinique, CHU Rennes, ERN ITHACA, Rennes, France; University Rennes, CNRS, INSERM, IGDR (Institut de Génétique et développement de Rennes), UMR 6290, ERL U1305, Rennes, France.; Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; McLean SD; Division of Clinical Genetics, The Children's Hospital of San Antonio, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zacher P; Epilepsy Center Kleinwachau, Dresden-Radeberg, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Evenepoel L; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium.; Blanc P; Sorbonne Université, Department of Medical Genetics, APHP, Pitié-Salpêtrière hospital, Paris Brain Institute-ICM, Laboratoire SeqOIA-PFMG2025, Paris, France.; El Khattabi L; Department of Medical Genetics, APHP, Armand Trousseau and Pitié-Salpêtrière hospitals, Brain Development team, Paris Brain Institute-ICM, Sorbonne Université, Paris, France; Laboratoire SeqOIA-PFMG2025, Paris, France.; Haque N; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Urrutia R; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; SynerGene Education, Hejun College, Huichang Jiangxi, China.; Du H; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China.; Rappaport L; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Liu CM; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China. Electronic address: liuchm@ioz.ac.cn.; Chen X; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. Electronic address: xiaolichen@pumc.edu.cn.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Stodola TJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Chi YI; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; De Assuncao TM; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Leverence EN; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Tripathi S; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Dsouza NR; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Mathison AJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Volkman BF; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Smith BC; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Lomberk G; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Zimmermann MT; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Urrutia R; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8700181 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0134 (Electronic) Linking ISSN: 08873585 NLM ISO Abbreviation: Proteins Subsets: MEDLINE

Chi YI; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Stodola TJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; De Assuncao TM; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Leverence EN; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Tripathi S; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Dsouza NR; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Mathison AJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Basel DG; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Pediatric Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.; Volkman BF; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Smith BC; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Lomberk G; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, USA.; Zimmermann MT; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Urrutia R; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.; Division of Pediatric Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE; PubMed not MEDLINE

Dsouza NR; Computational Structural Genomics Unit, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Cottrell CE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pathology, The Ohio State University, Columbus, OH 43210, USA.; Davies OMT; School of Medicine, Medical College of Wisconsin, Milwaukee, WI 53227, USA.; Tollefson MM; Department of Dermatology and Pediatrics, Mayo Clinic, Rochester, MN 55905, USA.; Frieden IJ; Department of Dermatology, University of California-San Francisco, San Francisco, CA 94143, USA.; Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Urrutia R; Computational Structural Genomics Unit, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Drolet BA; Department of Dermatology Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53715, USA.; Zimmermann MT; Computational Structural Genomics Unit, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101580444 Publication Model: Electronic Cited Medium: Print ISSN: 2075-1729 (Print) Linking ISSN: 20751729 NLM ISO Abbreviation: Life (Basel) Subsets: PubMed not MEDLINE

Chi YI; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Stodola TJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; De Assuncao TM; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Leverence EN; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Tripathi S; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Dsouza NR; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Mathison AJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Basel DG; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Pediatric Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.; Volkman BF; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Smith BC; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Lomberk G; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI, USA.; Zimmermann MT; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Urrutia R; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, GSPMC, Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.; Division of Pediatric Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA. rurrutia@mcw.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Nichols-Vinueza DX; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA.; Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA.; Bundy V; Division of Allergy and Immunology, Children's National Hospital, Washington, D.C, USA.; Bosticardo M; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA.; Zimmermann MT; Genomic Sciences and Precision Medicine Center, Medical College Wisconsin, Milwaukee, WI, USA.; Dsouza NR; Genomic Sciences and Precision Medicine Center, Medical College Wisconsin, Milwaukee, WI, USA.; Pala F; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA.; Dobbs K; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA.; Stoddard J; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.; Niemela JE; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.; Kuehn HS; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.; Keller MD; Division of Allergy and Immunology, Children's National Hospital, Washington, D.C, USA.; Rueda CM; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Urrutia R; Genomic Sciences and Precision Medicine Center, Medical College Wisconsin, Milwaukee, WI, USA.; Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.; Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA. luigi.notarangelo2@nih.gov.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

García-Cazorla À; Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain. agarcia@sjdhospitalbarcelona.org.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. agarcia@sjdhospitalbarcelona.org.; Verdura E; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Juliá-Palacios N; Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA.; Goicoechea L; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Planas-Serra L; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Tsogtbaatar E; Department of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ, 85260, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Scottdale, AZ, 85260, USA.; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottdale, AZ, 85260, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Schlüter A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Urreizti R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.; Tarnowski JM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Ruiz M; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Rodríguez-Palmero A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Department of Pediatrics, Paediatric Neurology Unit, University Hospital Germans Trias i Pujol, 08916, Badalona, Catalonia, Spain.; Fourcade S; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Cogné B; Service de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.; Besnard T; Service de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.; Vincent M; Service de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.; Bézieau S; Service de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.; Folmes CD; Department of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ, 85260, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Scottdale, AZ, 85260, USA.; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottdale, AZ, 85260, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Clinical and Translational Science Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA.; Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA.; Artuch R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.; Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA.; Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. apujol@idibell.cat.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. apujol@idibell.cat.; Catalan Institution of Research and Advanced Studies (ICREA), 08010, Barcelona, Catalonia, Spain. apujol@idibell.cat.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Exner EC; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Geurts AM; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Hoffmann BR; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Department of Bioengineering, Medical College of Wisconsin and Marquette University, Milwaukee, Wisconsin, United States of America.; Cardiovascular Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Casati M; Cardiovascular Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Stodola T; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Dsouza NR; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Zimmermann M; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Lombard JH; Department of Physiology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Greene AS; The Jackson Laboratory, Bar Harbor, Maine, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Mathison A; Genomics and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Division of Research, Department of Surgery, Medical College of Wisconsin, WI Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Milech De Assuncao T; Genomics and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Division of Research, Department of Surgery, Medical College of Wisconsin, WI Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Dsouza NR; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, Genomics and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Williams M; Department of Surgery, Duke University Medical Center, Durham, North Carolina, United States of America.; Zimmermann MT; Bioinformatics Research and Development Laboratory, and Precision Medicine Simulation Unit, Genomics and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Urrutia R; Genomics and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Division of Research, Department of Surgery, Medical College of Wisconsin, WI Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Lomberk G; Genomics and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Division of Research, Department of Surgery, Medical College of Wisconsin, WI Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.; Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Schalk A; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Cousin MA; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Wain KE; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Powis Z; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Minks K; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Trimouille A; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Lasseaux E; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Angelini C; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Spataro N; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Gabau E; Paediatric Unit, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain.; Stolerman E; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Washington C; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Louie R; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Kemppainen JL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.; Kooy F; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Meuwissen M; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Diderich KEM; Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands.; Sheidley B; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Park M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Hamdan FF; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Michaud JL; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Lewis AJ; Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany.; Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; Passemard S; APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, France.; NeuroDiderot, UMR1141, INSERM, Paris, France.; Mignot C; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; van Gassen K; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Itzikowitz G; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Allen J; Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; Neuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa.; Korf BR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Skelton T; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson M; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; HudsonAlpha Institute, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Robin NH; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Rudy NL; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Foss K; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Alembik Y; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Durand B; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Tran Mau-Them F; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Ranza E; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Blanc X; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Antonarakis SE; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; McWalter K; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Torti E; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Millan F; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Dameron A; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Tokita M; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Klee EW; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Piton A; Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France piton@igbmc.fr.; Gerard B; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Cousin MA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Veale EL; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK.; Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Tripathi S; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Holden RG; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK.; Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany.; Beek G; Children's Hospital of Minnesota, Minneapolis, MN, USA.; Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Bhambhani V; Children's Hospital of Minnesota, Minneapolis, MN, USA.; Bialer M; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA.; Bigoni S; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.; Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada.; Carmichael J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK.; Courtin T; Département of Genetics, APHP, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France.; Cogne B; CHU Nantes, Service de génétique médicale, Nantes, France.; Dabaj I; CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et éducation fonctionnelle de l'enfant, INSERM U 1245, ED497, 76000, Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Centre de Reference Nord-Est-Ile de France, 92380, Garches, France.; Doummar D; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France.; Fazilleau L; Service de Néonatologie, CHU de Caen, Caen, France.; Ferlini A; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.; Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Graham JM Jr; Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Haack TB; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Juusola J; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Kayani S; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center and Children's Health, Dallas, TX, USA.; Keren B; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France.; Ketteler P; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Pediatrics III, Pediatric Oncology and Hematology, University Hospital Essen, Essen, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Lambert L; Service de Genetique Clinique, CHRU de Nancy, F-54000, Vandoeuvre-les-Nancy, France.; Unite INSERM N-GERE UMR_S 1256, Université de Lorraine, Faculté de Médecine, 9 avenue de la Forêt de Haye, CS 50184, Vandoeuvre-les-Nancy, France.; Latypova X; CHU Nantes, Service de génétique médicale, Nantes, France.; Lebel RR; Section of Medical Genetics, SUNY Upstate University Hospital, Syracuse, NY, USA.; Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Leonardi E; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liew W; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore.; Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Mardini S; Division of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester, MN, USA.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Mignot C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France.; McLaughlin J; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA.; Murgia A; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy.; Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.; Nava C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Nizon M; CHU Nantes, Service de génétique médicale, Nantes, France.; Ognibene D; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.; Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.; Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.; Runke CK; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Shatin, Hong Kong SAR.; Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MT, USA.; Spranger S; Practice of Human Genetics, Bremen, Germany.; Tan ES; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore.; Taylor J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK.; Trentesaux AS; Service de Néonatologie, CHU de Caen, Caen, France.; Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.; Zadeh N; Genetics Center, Orange, CA, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, CA, USA.; Urrutia R; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.; Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Human Research Center, Milwaukee, Wl, USA. mtzimmermann@mcw.edu.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu.; Mathie A; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. a.a.mathie@kent.ac.uk.; School of Engineering, Arts, Science and Technology, University of Suffolk, Ipswich, UK. a.a.mathie@kent.ac.uk.; Klee EW; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; 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.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Tripathi S; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Mathison AJ; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Leverence E; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Urrutia R; Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Division of Research, Department of Surgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE

Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Bergerson JRE; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Kawai T; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Kuehn HS; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.; McDermott DH; Molecular Signaling Section, Laboratory of Molecular Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Cortese I; Neuroimmunology Clinic, Division of Neuroimmunology and Neurovirology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Zimmermann MT; Division of Research, Genomics Sciences & Precision Medicine Center, Milwaukee, WI.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI.; Dobbs AK; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Bosticardo M; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Fink D; Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD.; Majumdar S; Molecular Signaling Section, Laboratory of Molecular Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Palterer B; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.; Pala F; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Dsouza NR; Division of Research, Genomics Sciences & Precision Medicine Center, Milwaukee, WI.; Pouzolles M; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.; Taylor N; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.; Institut de Genetique Moleculaire de Montpellier, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5535, Universite de Montpellier, Montpellier, France.; Calvo KR; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.; Daley SR; Centre for Immunology and Infection Control, School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.; Velez D; Molecular Signaling Section, Laboratory of Molecular Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Agharahimi A; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Myint-Hpu K; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Dropulic LK; Laboratory of Infectious Disease and.; Lyons JJ; Division of Intramural Research, Laboratory of Allergic Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD and.; Holland SM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Freeman AF; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Ghosh R; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Similuk MB; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Niemela JE; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.; Stoddard J; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.; Kuhns DB; Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD.; Urrutia R; Division of Research, Genomics Sciences & Precision Medicine Center, Milwaukee, WI.; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI.; Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.; Walkiewicz MA; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Murphy PM; Molecular Signaling Section, Laboratory of Molecular Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.; Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

Schultz-Rogers L; Mayo Clinic.; Lach FP; The Rockefeller University.; Rickman KA; The Rockefeller University.; Ferrer A; Mayo Clinic.; Mangaonkar AA; Mayo Clinic.; Schwab TL; Mayo Clinic.; Schmitz CT; Mayo Clinic.; Clark KJ; Mayo Clinic.; Dsouza NR; Medical College of Wisconsin.; Zimmermann MT; Medical College of Wisconsin.; Litzow M; Mayo Clinic.; Jacobi N; Hennepin County Medical Center.; Klee EW; Mayo Clinic.; Smogorzewska A; The Rockefeller University.; Patnaik MM; Mayo Clinic.

Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE

Brunet T; Institute of Human Genetics, Technical University Munich, Munich, Germany. theresa.brunet@mri.tum.de.; McWalter K; GeneDx, Inc., Gaithersburg, MD, USA.; Mayerhanser K; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Anbouba GM; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Armstrong-Javors A; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA.; Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Baugh E; Institute for Genomic Medicine, Columbia University, New York, NY, USA.; Begtrup A; GeneDx, Inc., Gaithersburg, MD, USA.; Bupp CP; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.; Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.; Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Del Rey Jimenez JC; St George's Genomics Service, St George's University Hospitals NHS FT, London, UK.; Demmer L; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Fleischer N; FDNA Inc., Boston, MA, USA.; Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Ghate S; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA.; Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.; Green SR; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA.; Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.; Kdissa A; CENTOGENE AG, Rostock, Germany.; Klee D; Department of Diagnostic and Interventional Radiology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Lancaster E; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.; McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London, UK.; Meeks NJL; Department of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Mittag D; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA.; Moore H; INTEGRIS Pediatric Specialties/Medical Genetics, Oklahoma City, OK, USA.; Olsen AK; Department of Pediatric, Soerlandet Sykehus Kristiansand, Kristiansand, Norway.; Ortiz D; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Parsons G; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Person RE; GeneDx, Inc., Gaithersburg, MD, USA.; Punj S; GeneDx, Inc., Gaithersburg, MD, USA.; Ramos-Rivera GA; Department of Pediatric Neurology, National Institute of Children's Diseases, Bratislava, Slovakia.; Sacoto MJG; GeneDx, Inc., Gaithersburg, MD, USA.; Bradley Schaefer G; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA.; Schnur RE; GeneDx, Inc., Gaithersburg, MD, USA.; Scott TM; Texas Children's Hospital, Houston, TX, USA.; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA.; Scott DA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.; Serbinski CR; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Siu VM; Department of Pediatrics, Western University, London, ON, Canada.; Stadheim BF; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway.; Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Švantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia.; Velsher L; Genetics Program, North York General Hospital, Toronto, ON, Canada.; Wargowski DS; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA.; Wentzensen IM; GeneDx, Inc., Gaithersburg, MD, USA.; Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Winkelmann J; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Neurogenetics, Technische Universität München, Munich, Germany.; Yap P; Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand.; Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Zech M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Meitinger T; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany.; Wagner M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Sigafoos AN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Lee HB; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: mtzimmermann@mcw.edu.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu.

Publisher: Pergamon Press Country of Publication: United States NLM ID: 0326377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2472 (Electronic) Linking ISSN: 00493848 NLM ISO Abbreviation: Thromb Res Subsets: MEDLINE

Čierny M; Department of Neurology, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: m.cierny@mail.muni.cz.; Hooshmand SI; Department of Neurology, Medical College of Wisconsin, Milwaukee, WI, USA.; Fee D; Department of Neurology, Medical College of Wisconsin, Milwaukee, WI, USA.; Tripathi S; Precision Medicine Simulation Unit, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Dsouza NR; Precision Medicine Simulation Unit, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; La Pean Kirschner A; Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Zimmermann MT; Precision Medicine Simulation Unit, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Brennan R; Department of Neurology, Medical College of Wisconsin, Milwaukee, WI, USA.

Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE

Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, 72202, USA.; Lombardo R; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.; Hopkin R; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.; Linehan AR; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Simpson J; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Agre KE; Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA; Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.; Stephens MC; Pediatric Gastroenterology, Mayo Clinic, Rochester, MN, 55905, USA.; Grothe RM; Pediatric Gastroenterology, Mayo Clinic, Rochester, MN, 55905, USA.; Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA.; Xie Y; GeneDx, Gaithersburg, MD, 20877, USA.; Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Urrutia RA; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.; Cole CR; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, 45267, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA; Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA. Electronic address: klee.eric@mayo.edu.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA. Electronic address: mtzimmermann@mcw.edu.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE