| Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients H Stranneheim, K Lagerstedt-Robinson, M Magnusson, M Kvarnung, ... Genome Medicine 13, 1-15, 2021 | 227 | 2021 |
| Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta K Lindahl, E Åström, CJ Rubin, G Grigelioniene, B Malmgren, ... European Journal of Human Genetics 23 (8), 1042-1050, 2015 | 224 | 2015 |
| Demonstration of estrogen receptor-β immunoreactivity in human growth plate cartilage LO Nilsson, A Boman, L Sävendahl, G Grigelioniene, C Ohlsson, ... The Journal of Clinical Endocrinology & Metabolism 84 (1), 370-373, 1999 | 164 | 1999 |
| FAM111A mutations result in hypoparathyroidism and impaired skeletal development S Unger, MW Górna, A Le Béchec, S Do Vale-Pereira, MF Bedeschi, ... The American Journal of Human Genetics 92 (6), 990-995, 2013 | 140 | 2013 |
| Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway R Acuna-Hidalgo, D Schanze, A Kariminejad, A Nordgren, ... The American Journal of Human Genetics 95 (3), 285-293, 2014 | 137 | 2014 |
| From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying … A Lindstrand, J Eisfeldt, M Pettersson, CMB Carvalho, M Kvarnung, ... Genome medicine 11, 1-23, 2019 | 132 | 2019 |
| Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea P Heinz-Erian, T Müller, B Krabichler, M Schranz, C Becker, ... The American Journal of Human Genetics 84 (2), 188-196, 2009 | 130 | 2009 |
| Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus CM Hansson, PG Buckley, G Grigelioniene, A Piotrowski, AR Hellström, ... BMC genomics 8, 1-16, 2007 | 111 | 2007 |
| Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study K Andersson, G Dahllöf, K Lindahl, A Kindmark, G Grigelioniene, ... PLoS One 12 (5), e0176466, 2017 | 105 | 2017 |
| Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations CW Ockeloen, MH Willemsen, S De Munnik, BW Van Bon, N De Leeuw, ... European Journal of Human Genetics 23 (9), 1176-1185, 2015 | 99 | 2015 |
| Gain-of-function mutation of microRNA-140 in human skeletal dysplasia G Grigelioniene, HI Suzuki, F Taylan, F Mirzamohammadi, ... Nature medicine 25 (4), 583-590, 2019 | 97 | 2019 |
| Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family J Dai, OH Kim, TJ Cho, M Schmidt-Rimpler, H Tonoki, K Takikawa, ... Journal of medical genetics 47 (10), 704-709, 2010 | 79 | 2010 |
| Growth in achondroplasia: development of height, weight, head circumference, and body mass index in a European cohort A Merker, L Neumeyer, NT Hertel, G Grigelioniene, O Mäkitie, K Mohnike, ... American journal of medical genetics Part A 176 (8), 1723-1734, 2018 | 70 | 2018 |
| Different mutations in PDE4D associated with developmental disorders with mirror phenotypes A Lindstrand, G Grigelioniene, D Nilsson, M Pettersson, W Hofmeister, ... Journal of medical genetics 51 (1), 45-54, 2014 | 70 | 2014 |
| Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes B Malmgren, K Andersson, K Lindahl, A Kindmark, G Grigelioniene, ... Oral diseases 23 (1), 42-49, 2017 | 68 | 2017 |
| A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation CR Ferreira, ZJ Xia, A Clément, DA Parry, M Davids, F Taylan, P Sharma, ... The American Journal of Human Genetics 103 (4), 553-567, 2018 | 67 | 2018 |
| Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity G Grigelioniene, J Schoumans, L Neumeyer, S Ivarsson, O Eklöf, ... Human genetics 109, 551-558, 2001 | 65 | 2001 |
| Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature NS Thomas, JF Harvey, DJ Bunyan, J Rankin, G Grigelioniene, DL Bruno, ... American Journal of Medical Genetics Part A 149 (7), 1407-1414, 2009 | 61 | 2009 |
| Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia G Grigelioniene, O Eklöf, SA Ivarsson, O Westphal, L Neumeyer, D Kedra, ... Human genetics 107, 145-149, 2000 | 60 | 2000 |
| Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome YH Chen, G Grigelioniene, PT Newton, J Gullander, M Elfving, ... Journal of Experimental Medicine 217 (3), e20191306, 2020 | 59 | 2020 |
