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Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 479 - 488
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1543 - 1546
1p36 deletion syndrome is a well‐described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies... 
distress | 1p36 | hypoxic ischemic encephalopathy | GENETICS & HEREDITY | Encephalopathy | Neuroimaging | Phenotypes | Periventricular leukomalacia | Clonal deletion | Ischemia | Cognitive ability | Medical records | Hypoxia | Substantia alba | Patients | Seizures
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 542 - 551
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features and intellectual disability caused by haploinsufficiency of the NSD1... 
hyperinsulinism | Sotos syndrome | sacrococcygeal teratoma | NSD1 | overgrowth syndrome | hypoglycemia | SOTOS-SYNDROME | GENETICS & HEREDITY | CELL | Gene mutations | Genetic aspects | Neonates | Phenotypes | Nsd1 gene | Clonal deletion | Mutation | Hypoglycemia | Gene deletion | Genotypes | Haploinsufficiency
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or... 
genotype–phenotype correlation | NF1 | p.Met992del | learning difficulties | neurofibroma | GENETICS & HEREDITY | Genotype & phenotype | Brain cancer
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
by Novati, S. Calchi and Gould, A and Udalski, A and Menzies, J.W and Bond, I.A and Shvartzvald, Y and Street, R.A and Hundertmark, M and Beichman, C.A and Yee, J.C and Carey, S and Poleski, R and Skowron, J and Kozłowski, S and Mróz, P and Pietrukowicz, P and Pietrzyński, G and Szymański, M.K and Soszyński, I and Ulaczyk, K and Wyrzykowski, Ł and Albrow, M and Beaulieu, J.P and Caldwell, J.A.R and Cassan, A and Coutures, C and Danielski, C and Prester, D. Dominis and Donatowicz, J and Lončarić, K and McDougall, A and Morales, J.C and Ranc, C and Zhu, W and Abe, F and Barry, R.K and Bennett, D.P and Bhattacharya, A and Fukunaga, D and Inayama, K and Koshimoto, N and Namba, S and Sumi, T and Suzuki, D and Tristram, P.J and Wakiyama, Y and Yonehara, A and Maoz, D and Kaspi, S and Friedmann, M and Bachelet, E and Jaimes, R. Figuera and Bramich, D.M and Tsapras, Y and Horne, K and Snodgrass, C and Wambsganss, J and Steele, I.A and Kains, N and Bozza, V and Dominik, M and JØrgensen, U.G and Alsubai, K.A and Ciceri, S and D'Ago, G and HaugbØlle, T and Hessman, F.V and Hinse, T.C and Juncher, D and Korhonen, H and Mancini, L and Popovas, A and Rabus, M and Rahvar, S and Scarpetta, G and Schmidt, R.W and Skottfelt, J and Southworth, J and Starkey, D and Surdej, J and Wertz, O and Zarucki, M and Gaudi, B.S and Pogge, R.W and Depoy, D.L and The MiNDSTEp Consortium and The MOA Collaboration and The Wise Grp and The FUN Collaboration and The OGLE Collaboration and The PLANET Collaboration and The RoboNet Collaboration
Astrophysical Journal, ISSN 0004-637X, 05/2015, Volume 804, Issue 1, pp. 1 - 25
We present microlens parallax measurements for 21 (apparently) isolated lenses observed toward the Galactic bulge that were imaged simultaneously from Earth... 
gravitational lensing: micro | planets and satellites: dynamical evolution and stability | planetary systems | NETWORK | ISOLATED STAR | MACHOS | SPACE-TELESCOPE | PHOTOMETRY | ASTRONOMY & ASTROPHYSICS | MASS | FREQUENCY | SYSTEMS | COMPANIONS | BULGE | Earth | Planets | Galaxies | Planet detection | Galactic bulge | Parallax | Bars | Lenses | Physics - Earth and Planetary Astrophysics
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 305 - 316
Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations.... 
neurodevelopmental disorder | FBXO11 | intellectual disability | INTELLECTUAL-DISABILITY | GENE | UBIQUITIN LIGASE | OTITIS-MEDIA | PATHWAY | GROWTH | GENETICS & HEREDITY | HUMANS | MUTATIONS | PROMOTES | FAMILY | Physiological aspects | Care and treatment | Genetic aspects | Research | Genetic variation | Mental retardation | Life Sciences | Genetics | Human genetics | Report
Journal Article