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1. Full Text Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
by Stray-Pedersen, Asbjørg, MD, PhD and Sorte, Hanne Sørmo, MS and Samarakoon, Pubudu, MS and Gambin, Tomasz, PhD and Chinn, Ivan K., MD and Coban Akdemir, Zeynep H., PhD and Erichsen, Hans Christian, MD, PhD and Forbes, Lisa R., MD and Gu, Shen, PhD and Yuan, Bo, PhD and Jhangiani, Shalini N., MS and Muzny, Donna M., MS and Rødningen, Olaug Kristin, PhD and Sheng, Ying, PhD and Nicholas, Sarah K., MD, PhD and Noroski, Lenora M., MD, MPH and Seeborg, Filiz O., MD, MPH and Davis, Carla M., MD and Canter, Debra L., MS and Mace, Emily M., PhD and Vece, Timothy J., MD and Allen, Carl E., MD, PhD and Abhyankar, Harshal A., MS and Boone, Philip M., MD, PhD and Beck, Christine R., PhD and Wiszniewski, Wojciech, MD, PhD and Fevang, Børre, MD, PhD and Aukrust, Pål, MD, PhD and Tjønnfjord, Geir E., MD, PhD and Gedde-Dahl, Tobias, MD, PhD and Hjorth-Hansen, Henrik, MD, PhD and Dybedal, Ingunn, MD, PhD and Nordøy, Ingvild, MD, PhD and Jørgensen, Silje F., MD and Abrahamsen, Tore G., MD, PhD and Øverland, Torstein, MD and Bechensteen, Anne Grete, MD, PhD and Skogen, Vegard, MD, PhD and Osnes, Liv T.N., MD, PhD and Kulseth, Mari Ann, PhD and Prescott, Trine E., MD and Rustad, Cecilie F., MD and Heimdal, Ketil R., MD, PhD and Belmont, John W., MD, PhD and Rider, Nicholas L., DO and Chinen, Javier, MD, PhD and Cao, Tram N., MS and Smith, Eric A., BSc and Caldirola, Maria Soledad, BSc and Bezrodnik, Liliana, MD and Lugo Reyes, Saul Oswaldo, MD and Espinosa Rosales, Francisco J., MD and Guerrero-Cursaru, Nina Denisse, BSc and Pedroza, Luis Alberto, PhD and Poli, Cecilia M., MD and Franco, Jose L., MD, PhD and Trujillo Vargas, Claudia M., PhD and Aldave Becerra, Juan Carlos, MD and Wright, Nicola, MD and Issekutz, Thomas B., MD and Issekutz, Andrew C., MD and Abbott, Jordan, MD and Caldwell, Jason W., DO and Bayer, Diana K., DO and Chan, Alice Y., MD, PhD and Aiuti, Alessandro, MD, PhD and Cancrini, Caterina, MD, PhD and Holmberg, Eva, MD and West, Christina, MD, PhD and Burstedt, Magnus, MD, PhD and Karaca, Ender, MD and Yesil, Gözde, MD and Artac, Hasibe, MD and Bayram, Yavuz, MD and Atik, Mehmed Musa, BSc and Eldomery, Mohammad K., MD and Ehlayel, Mohammad S., MD, PhD and Jolles, Stephen, MD, PhD and Flatø, Berit, MD, PhD and Bertuch, Alison A., MD, PhD and Hanson, I. Celine, MD and Zhang, Victor W., PhD and Wong, Lee-Jun, PhD and Hu, Jianhong, PhD and Walkiewicz, Magdalena, PhD and Yang, Yaping, PhD and Eng, Christine M., MD and Boerwinkle, Eric, PhD and Gibbs, Richard A., PhD and Shearer, William T., MD, PhD and Lyle, Robert, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (Hon) and Medicinska fakulteten and Institutionen för klinisk vetenskap and Pediatrik and Umeå universitet
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 232 - 245
Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300... 
Allergy and Immunology | Primary immunodeficiency disease | whole-exome sequencing | copy number variants | WHOLE-GENOME | PRACTICE PARAMETER | SEVERE INTELLECTUAL DISABILITY | CHRONIC GRANULOMATOUS-DISEASE | COMMON VARIABLE IMMUNODEFICIENCY | GENETIC-VARIANTS | IMMUNOLOGY | MISSENSE MUTATIONS | IMMUNE DYSREGULATION | ALLERGY | SEQUENCE | GERMLINE MUTATIONS | Genomics | Humans | Middle Aged | Child, Preschool | Infant | Male | DNA Copy Number Variations | Young Adult | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Aged | High-Throughput Nucleotide Sequencing | Child | Immunological deficiency syndromes | Mutation | Laboratories | Genes | Colleges & universities | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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2. Full Text Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
by Yu, Hui, PhD and Zhang, Victor Wei, MD, PhD and Stray-Pedersen, Asbjørg, MD, PhD and Hanson, Imelda Celine, MD and Forbes, Lisa R., MD and de la Morena, M. Teresa, MD and Chinn, Ivan K., MD and Gorman, Elizabeth, PhD and Mendelsohn, Nancy J., MD and Pozos, Tamara, MD, PhD and Wiszniewski, Wojciech, MD, PhD and Nicholas, Sarah K., MD and Yates, Anne B., MD and Moore, Lindsey E., DO and Berge, Knut Erik, MD, PhD and Sorte, Hanne, MS and Bayer, Diana K., DO and ALZahrani, Daifulah, MD and Geha, Raif S., MD and Feng, Yanming, PhD and Wang, Guoli, PhD and Orange, Jordan S., MD, PhD and Lupski, James R., MD, PhD, DSc (hon) and Wang, Jing, MD and Wong, Lee-Jun, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 1142 - 1151.e2
Background Primary immunodeficiency diseases (PIDDs) are inherited disorders of the immune system. The most severe form, severe combined immunodeficiency... 
Allergy and Immunology | molecular diagnostics | severe combined immunodeficiency newborn screening | Severe combined immunodeficiency | next-generation sequencing | DEFECTS | INFECTIONS | OMENN SYNDROME | IMMUNOLOGY | ALLERGY | DISEASE | ARTEMIS | EXPERIENCE | TBX1 HAPLOINSUFFICIENCY | MUTATIONS | THYMUS TRANSPLANTATION | DELETIONS | Genetic Variation | Pathology, Molecular - trends | Severe Combined Immunodeficiency - genetics | Severe Combined Immunodeficiency - diagnosis | Humans | Adolescent | Female | Male | Pathology, Molecular - standards | Child | Sequence Analysis, DNA | Allergy | Medical colleges | Immunodeficiency | Medical genetics | B cells | T cells | Allergic reaction | Analysis | Genes | Genomics | Mortality | T cell receptors | Mutation | Genetic testing | Kinases | Medical screening | Deoxyribonucleic acid--DNA | Defects
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3. Full Text Whole Exome Sequencing Identifies Potential Defects in Multiple Immunodeficiency-Associated Genes in Individual Patients and Families with Primary Immunodeficiency Diseases
by Chinn, Ivan, MD and Forbes, Lisa R., MD and Nicholas, Sarah K., MD and Mace, Emily, PhD and Coban-Akdemir, Zeynep, PhD and Rider, Nicholas L., DO, FAAAAI and Jhangiani, Shalini N and Wiszniewski, Wojciech K., MD, PhD and Gibbs, Richard A., MD and Lupski, James R., (MD/PhD) and Orange, Jordan, MD, PhD, FAAAAI
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. AB172 - AB172
  [...]9 families with likely molecular diagnoses had one variant in a PIDD-associated gene, an atypical presentation for that gene defect, and other relevant... 
Allergy and Immunology | Medical colleges | Genes | Genotype & phenotype | Defects
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4. Full Text The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy
by Pehlivan, Davut and Beck, Christine R and Okamoto, Yuji and Harel, Tamar and Akdemir, Zeynep H. C and Jhangiani, Shalini N and Withers, Marjorie A and Goksungur, Meryem Tuba and Carvalho, Claudia M. B and Czesnik, Dirk and Gonzaga-Jauregui, Claudia and Wiszniewski, Wojciech and Muzny, Donna M and Gibbs, Richard A and Rautenstrauss, Bernd and Sereda, Michael W and Lupski, James R
Genetics in Medicine, ISSN 1098-3600, 05/2016, Volume 18, Issue 5, pp. 443 - 451
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute... 
Genetic Predisposition to Disease | Neural Conduction - genetics | Humans | Child, Preschool | Male | DNA Copy Number Variations - genetics | Mitochondrial Proteins - genetics | Polyneuropathies - physiopathology | Myelin Proteins - genetics | Motor Neurons - pathology | Charcot-Marie-Tooth Disease - genetics | Motor Neurons - metabolism | Exome - genetics | Comparative Genomic Hybridization | GTP Phosphohydrolases - genetics | Age of Onset | Myelin P0 Protein - genetics | Polymorphism, Single Nucleotide - genetics | Polyneuropathies - genetics | Adult | Female | Charcot-Marie-Tooth Disease - physiopathology | High-Throughput Nucleotide Sequencing - methods | exome sequencing | PRICKLE1 | array comparative genomic hybridization | Charcot-Marie-Tooth disease | MPZ
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