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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 De novo substitutions of TRPM3 cause intellectual disability and epilepsy
by Dyment, DA and Terhal, PA and Rustad, CF and Tveten, K and Griffith, C and Jayakar, P and Shinawi, M and Ellingwood, S and Smith, R and van Gassen, K and McWalter, K and Innes, AM and Lines, MA
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 10/2019, Volume 27, Issue 10, pp. 1611 - 1618
The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic encephalopathies frequently associated with rare de novo... 
CHANNELS | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Transient receptor potential proteins | Channel opening | Phenotypes | Coding | Intellectual disabilities | Epilepsy | Proline | Haploinsufficiency | Brief Communication | Medical genetics
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3. Full Text Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
by Yuan, Bo and Neira, Juanita and Pehlivan, Davut and Santiago-Sim, Teresa and Song, Xiaofei and Rosenfeld, Jill and Posey, Jennifer E and Patel, Vipulkumar and Jin, Weihong and Adam, Margaret P and Baple, Emma L and Dean, John and Fong, Chin-To and Hickey, Scott E and Hudgins, Louanne and Leon, Eyby and Madan-Khetarpal, Suneeta and Rawlins, Lettie and Rustad, Cecilie F and Stray-Pedersen, Asbjørg and Tveten, Kristian and Wenger, Olivia and Diaz, Jullianne and Jenkins, Laura and Martin, Laura and McGuire, Marianne and Pietryga, Marguerite and Ramsdell, Linda and Slattery, Leah and Abid, Farida and Bertuch, Alison A and Grange, Dorothy and Immken, LaDonna and Schaaf, Christian P and Van Esch, Hilde and Bi, Weimin and Cheung, Sau Wai and Breman, Amy M and Smith, Janice L and Shaw, Chad and Crosby, Andrew H and Eng, Christine and Yang, Yaping and Lupski, James R and Xiao, Rui and Liu, Pengfei and DDD Study
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 663 - 675
Purpose: Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic... 
STAG1 | STAG2 | Cohesin pathway | Clinical exome sequencing (CES) | Atypical cohesinopathies | COMPLEX | VARIANTS | COHESIN | DEVELOPMENTAL DELAY | INTELLECTUAL DISABILITY | MUTATIONS CAUSE | NIPBL | GENETICS & HEREDITY | DE-LANGE-SYNDROME | PROTEINS | cohesin pathway | clinical exome sequencing (CES)
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4. Full Text Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
by Smith, Miriam J and Isidor, Bertand and Beetz, Christian and Williams, Simon G and Bhaskar, Sanjeev S and Richer, Wilfrid and OʼSullivan, James and Anderson, Beverly and Daly, Sarah B and Urquhart, Jill E and Fryer, Alan and Rustad, Cecilie F and Mills, Samantha J and Samii, Amir and du Plessis, Daniel and Halliday, Dorothy and Barbarot, Sebastien and Bourdeaut, Franck and Newman, William G and Evans, D Gareth
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 2, pp. 141 - 147
OBJECTIVES:We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation. METHODS:We... 
EXCLUSION | FAMILIAL SCHWANNOMATOSIS | FREQUENCY | NF2 | DIAGNOSTIC-CRITERIA | NEUROFIBROMATOSIS TYPE-2 | VESTIBULAR SCHWANNOMAS | EXPRESSION | CLINICAL NEUROLOGY | Genetic Predisposition to Disease | Humans | Male | Neurofibromatoses - genetics | Transcription Factors - genetics | Loss of Heterozygosity | Sequence Analysis, DNA | Neurilemmoma - genetics | Neuroma, Acoustic - genetics | Pedigree | Skin Neoplasms - genetics | Germ-Line Mutation | Female | 216
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