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American Journal of Respiratory Cell and Molecular Biology, ISSN 1044-1549, 12/2017, Volume 57, Issue 6, pp. 711 - 720
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1396 - 1404
Purpose: Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood are a population that is probably enriched for... 
mortality | genetic diagnosis | infancy | diagnostic odyssey | neonatal intensive care unit | CHROMOSOMAL MICROARRAY | COST-EFFECTIVENESS | CHILDREN | RATES | IMPACT | MALFORMATIONS | INTENSIVE-CARE-UNIT | GENETICS & HEREDITY | ODYSSEY | Laboratories | Genetic disorders
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Stephan and Stessman, Holly A.F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W.M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Andrews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L.I and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A.L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E.L.M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Andreas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E and Granzow, Martin and Santen, Gijs W.E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ... and Deciphering Dev Dis Study and Undiagnosed Dis Network and GEM HUGO and Deciphering Developmental Disorders Study and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Journal Article
by Brownstein, Catherine A and Beggs, Alan H and Homer, Nils and Merriman, Barry and Yu, Timothy W and Flannery, Katherine C and DeChene, Elizabeth T and Towne, Meghan C and Savage, Sarah K and Price, Emily N and Holm, Ingrid A and Luquette, Lovelace J and Lyon, Elaine and Majzoub, Joseph and Neupert, Peter and McCallie, David and Szolovits, Peter and Willard, Huntington F and Mendelsohn, Nancy J and Temme, Renee and Finkel, Richard S and Yum, Sabrina W and Medne, Livija and Sunyaev, Shamil R and Adzhubey, Ivan and Cassa, Christopher A and De Bakker, Paul I.W and Duzkale, Hatice and Dworzyński, Piotr and Fairbrother, William and Francioli, Laurent and Funke, Birgit H and Giovanni, Monica A and Handsaker, Robert E and Lage, Kasper and Lebo, Matthew S and Lek, Monkol and Leshchiner, Ignaty and MacArthur, Daniel G and McLaughlin, Heather M and Murray, Michael F and Pers, Tune H and Polak, Paz P and Raychaudhuri, Soumya and Rehm, Heidi L and Soemedi, Rachel and Stitziel, Nathan O and Vestecka, Sara and Supper, Jochen and Gugenmus, Claudia and Klocke, Bernward and Hahn, Alexander and Schubach, Max and Menzel, Mortiz and Biskup, Saskia and Freisinger, Peter and Deng, Mario and Braun, Martin and Perner, Sven and Smith, Richard J.H and Andorf, Janeen L and Huang, Jian and Ryckman, Kelli and Sheffield, Val C and Stone, Edwin M and Bair, Thomas and Ann Black-Ziegelbein, E and Braun, Terry A and Darbro, Benjamin and DeLuca, Adam P and Kolbe, Diana L and Scheetz, Todd E and Shearer, Aiden E and Sompallae, Rama and Wang, Kai and Bassuk, Alexander G and Edens, Erik and Mathews, Katherine and Moore, Steven A and Shchelochkov, Oleg A and Trapane, Pamela and Bossler, Aaron and Campbell, Colleen A and Heusel, Jonathan W and Kwitek, Anne and Maga, Tara and Panzer, Karin and Wassink, Thomas and Van Daele, Douglas and Azaiez, Hela and Booth, Kevin and Meyer, Nic and Segal, Michael M and Williams, Marc S and Tromp, Gerard and White, Peter and Corsmeier, Donald and Fitzgerald-Butt, Sara and Herman, Gail and Lamb-Thrush, Devon and ... and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
Genome Biology, ISSN 1474-7596, 2014, Volume 15, Issue 3, pp. R53 - R53
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 560 - 569
Journal Article
Muscle & Nerve, ISSN 0148-639X, 05/2017, Volume 55, Issue 5, pp. 761 - 765
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 02/2019, Volume 62, Issue 2, pp. 137 - 143
Genomic sequencing has allowed for the characterization of new gene-to-disease relationships, as well as the identification of variants in established disease... 
Phenotypic expansion | Oligophrenin | Whole exome sequencing | Mendelian disease | OLIGOPHRENIN-1 | ABNORMALITIES | GENOTYPE | DELETION | FAMILY | INTELLECTUAL DISABILITY | LINKED MENTAL-RETARDATION | GENETICS & HEREDITY | PATIENT | MUTATIONS
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2014, Volume 22, Issue 10, pp. 1229 - 1232
The constellation of clinico-pathological and laboratory findings including massive hepatomegaly, steatosis, and marked hypertriglyceridemia in infancy is... 
hypertriglyceridemia | steatohepatitis | hepatomegaly | GPD1 | CELLS | DIHYDROXYACETONE PHOSPHATE-PATHWAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | DEHYDROGENASE | DEFICIENCY | COA | LIVER | GENETICS & HEREDITY | GLYCEROLIPID BIOSYNTHESIS | Fatty Liver - genetics | Glycerol-3-Phosphate Dehydrogenase (NAD+) - metabolism | Carnitine O-Palmitoyltransferase - genetics | Genome-Wide Association Study | Hypertriglyceridemia - genetics | Humans | Infant | Hepatomegaly - genetics | Sequence Analysis, DNA | DNA Copy Number Variations | Fatty Liver - diagnosis | Carnitine O-Palmitoyltransferase - metabolism | Gene Deletion | Hepatomegaly - diagnosis | Female | Heterozygote | Mutation | Hypertriglyceridemia - diagnosis | Child | Glycerol-3-Phosphate Dehydrogenase (NAD+) - genetics | Dehydrogenases | Dihydroxyacetone | Laboratories | Cardiomyopathy | Copy number | Genomics | Liver | Families & family life | Dihydroxyacetone phosphate | Biosynthesis | Medical schools | Proteins | Ultrasonic imaging | NADH | Clonal deletion | Glycerol-3-phosphate | Phosphate | Rodents | Fibroblasts | Deoxyribonucleic acid--DNA | Enzymes | Glycerol-3-phosphate dehydrogenase | Glycerol | Triglycerides | Hypoglycemia | Apolipoproteins | Patients | Gpd1 protein | Carnitine | Steatosis | NAD | Medicine | Hospitals | Biopsy | Hypertriglyceridemia | Skin | DNA sequencing | Short Report
Journal Article