Giedre Grigelioniene

About me
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CV
Public outreach and news

About me

Associate Professor
*Associate Professor and Team leader*
Research group: Clinical Genetics, Department of Molecular Medicine and
Surgery [1]
[1] https://ki.se/en/mmk/clinical-genetics

Research

Genetic skeletal syndromes: Causes and mechanism behind rare and ultrarare genetic syndromes with skeletal malformations and growth abnormalities

Articles

Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2025;197(3):e63935
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
Batkovskyte D; Swolin-Eide D; Hammarsjo A; Saether KB; Thunstrom S; Lundin J; Eisfeldt J; Lindstrand A; Nordgren A; Astrom E; Grigelioniene G
Article: CLINICAL GENETICS. 2025
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency
Stavren-Eriksson E; Hammarsjo A; Lindstrand A; Nordgren A; Grigelioniene G; Pigg MH
Journal article: CLINICAL GENETICS. 2025;107(1):78-82
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect
Gregersen PA; Hammarsjo A; Graversen L; Brix N; Lindelof H; Jensen UB; Farholt S; Rubak S; Bjerre J; Piticchio SG; Terkelsen T; Nishimura G; Hellfritzsch MB; Grigelioniene G
Journal article: HUMAN GENOME VARIATION. 2024;11(1):44
Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing
Nakajima E; Yokohama Y; Sugiyama S; Taketazu M; Mitsube K; Yamada T; Hammarsjoe A; Grigelioniene G; Nishimura G; Makita Y
Article: CLINICAL GENETICS. 2024;105(1):87-91
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome
Batkovskyte D; Komatsu M; Hammarsjo A; Pooh R; Shimokawa O; Ikegawa S; Grigelioniene G; Nishimura G; Yamada T
Article: NPJ GENOMIC MEDICINE. 2023;8(1):39
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Jacob P; Lindelof H; Rustad CF; Sutton VR; Moosa S; Udupa P; Hammarsjo A; Bhavani GS; Batkovskyte D; Tveten K; Dalal A; Horemuzova E; Nordgren A; Tham E; Shah H; Merckoll E; Orellana L; Nishimura G; Girisha KM; Grigelioniene G
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63
Pacheco NP; Pettersson M; Lindstrand A; Grigelioniene G
Article: RADIOGRAPHICS. 2023;43(5):e220067
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis
Handa A; Grigelioniene G; Nishimura G
Journal article: PATHOLOGY. 2023;55:s19-s20
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: HGG ADVANCES. 2023;4(1):100148
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
Young C; Batkovskyte D; Kitamura M; Shvedova M; Mihara Y; Akiba J; Zhou W; Hammarsjo A; Nishimura G; Yatsuga S; Grigelioniene G; Kobayashi T
Article: FRONTIERS IN GENETICS. 2023;14:1174046
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
Flores AG; Nordgren I; Pettersson M; Dias-Santagata D; Nilsson D; Hammarsjo A; Lindstrand A; Batkovskyte D; Wiggs J; Walton DS; Goldenberg P; Eisfeldt J; Lin AE; Lachman RS; Nishimura G; Grigelioniene G
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: HUMAN MUTATION. 2022;43(11):1567-1575
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation
Eisfeldt J; Rezayee F; Pettersson M; Lagerstedt K; Malmgren H; Falk A; Grigelioniene G; Lindstrand A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2022;107(4):e1610-e1619
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib
Milioto A; Reyes M; Hanna P; Kiuchi Z; Turan S; Zeve D; Agarwal C; Grigelioniene G; Chen A; Mericq V; Frangos M; Ten S; Mantovani G; Salusky IB; Tebben P; Juppner H
Article: NPJ GENOMIC MEDICINE. 2022;7(1):11
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Zhao S; Zhang Y; Hallgrimsdottir S; Zuo Y; Li X; Batkovskyte D; Liu S; Lindelof H; Wang S; Hammarsjo A; Yang Y; Ye Y; Wang L; Yan Z; Lin J; Yu C; Chen Z; Niu Y; Wang H; Zhao Z; Liu P; Qiu G; Posey JE; Wu Z; Lupski JR; Micule I; Anderlid B-M; Voss U; Sulander D; Kuchinskaya E; Nordgren A; Nilsson O; Zhang TJ; Grigelioniene G; Wu N
Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:862908
Case Report: Inversion of LMX1B-A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
Lindelof H; Horemuzova E; Voss U; Nordgren A; Grigelioniene G; Hammarsjo A
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: GENOME MEDICINE. 2021;13(1):40
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(2):517-527
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
Botto LD; Meeths M; Campos-Xavier B; Bergamaschi R; Mazzanti L; Scarano E; Finocchi A; Cancrini C; Zirn B; Kuehnle I; Kramm CM; Alanay Y; Jones WD; Irving M; Sabir A; Henter J-I; Borgstrom B; Nordgren A; Hammarsjo A; Putti C; Mozzato C; Zuccarello D; Nishimura G; Bonafe L; Grigelioniene G; Unger S; Superti-Furga A
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(2):226-235
SLC4A2 Deficiency Causes a New Type of Osteopetrosis
Xue J-Y; Grigelioniene G; Wang Z; Nishimura G; Iida A; Matsumoto N; Tham E; Miyake N; Ikegawa S; Guo L
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Stevenson RE; Ha T; Cavalcanti DP; Miyahara H; Skinner SA; Aguirre MA; Akcoeren Z; Utine GE; Chiu T; Shimizu K; Hammarsjoe A; Boduroglu K; Moore HW; Louie RJ; Arts P; Merrihew AN; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Article: GENETICS IN MEDICINE. 2020;22(5):857-866
Defining the clinical phenotype of Saul-Wilson syndrome
Ferreira CR; Zein WM; Huryn LA; Merker A; Berger SI; Wilson WG; Tiller GE; Wolfe LA; Merideth M; Carvalho DR; Duker AL; Bratke H; Haug MG; Rohena L; Hove HB; Xia Z-J; Ng BG; Freeze HH; Gabriel M; Russi AHS; Brick L; Kozenko M; Earl DL; Tham E; Nishimura G; Phillips JA; Gahl WA; Hamid R; Jackson AP; Grigelioniene G; Bober MB
Article: JOURNAL OF EXPERIMENTAL MEDICINE. 2020;217(3):e20191306
Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome
Chen Y-H; Grigelioniene G; Newton PT; Gullander J; Elfving M; Hammarsjo A; Batkovskyte D; Alsaif HS; Kurdi WIY; Abdulwahab F; Shanmugasundaram V; Devey L; Bacrot S; Brodszki J; Huber C; Hamel B; Gisselsson D; Papadogiannakis N; Jedrycha K; Gurtl-Lackner B; Chagin AS; Nishimura G; Aschenbrenner D; Alkuraya FS; Laurence A; Cormier-Daire V; Uhlig HH
Article: GENOME MEDICINE. 2019;11(1):68
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: NATURE MEDICINE. 2019;25(4):583-590
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjo A; Marsk E; Nordgren A; Nordenskjold M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(4):553-567
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira CR; Xia Z-J; Clement A; Parry DA; Davids M; Taylan F; Sharma P; Turgeon CT; Blanco-Sanchez B; Ng BG; Logan CV; Wolfe LA; Solomon BD; Cho MT; Douglas G; Carvalho DR; Bratke H; Haug MG; Phillips JB; Wegner J; Tiemeyer M; Aoki K; Nordgren A; Hammarsjo A; Duker AL; Rohena L; Hove HB; Ek J; Adams D; Tifft CJ; Onyekweli T; Weixel T; Macnamara E; Radtke K; Powis Z; Earl D; Gabriel M; Russi AHS; Brick L; Kozenko M; Tham E; Raymond KM; Phillips JAIII; Tiller GE; Wilson WG; Hamid R; Malicdan MCV; Nishimura G; Grigelioniene G; Jackson A; Westerfield M; Bober MB; Gahl WA; Freeze HH
Article: HUMAN MUTATION. 2018;39(10):1456-1467
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson M; Vaz R; Hammarsjo A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018;176(9):1819-1829
Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length
Merker A; Neumeyer L; Hertel NT; Grigelioniene G; Mohnike K; Hagenas L
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018;176(8):1723-1734
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
Merker A; Neumeyer L; Hertel NT; Grigelioniene G; Makitie O; Mohnike K; Hagenas L
Article: NATURE GENETICS. 2018;50(5):657-661
Deconvolution of seed and RNA-binding protein crosstalk in RNAi-based functional genomics
Suzuki HI; Spengler RM; Grigelioniene G; Kobayashi T; Sharp PA
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(4):753-760
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal GF; Nishimura G; Voss U; Bertola DR; Astrom E; Svensson J; Yamamoto GL; Hammarsjo A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E
Article: SCIENTIFIC REPORTS. 2017;7(1):15585
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjo A; Wang Z; Vaz R; Taylan F; Sedghi M; Girisha KM; Chitayat D; Neethukrishna K; Shannon P; Godoy R; Gowrishankar K; Lindstrand A; Nasiri J; Baktashian M; Newton PT; Guo L; Hofmeister W; Pettersson M; Chagin AS; Nishimura G; Yan L; Matsumoto N; Nordgren A; Miyake N; Grigelioniene G; Ikegawa S
Journal article: PEDIATRIC RHEUMATOLOGY. 2017;15:44
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gs Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler M-L; Makitie O; Juppner H
Article: JOURNAL OF HUMAN GENETICS. 2017;62(4):503-506
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Wang Z; Horemuzova E; Iida A; Guo L; Liu Y; Matsumoto N; Nishimura G; Nordgren A; Miyake N; Tham E; Grigelioniene G; Ikegawa S
Article: PLOS ONE. 2017;12(5):e0176466
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study
Andersson K; Dahllof G; Lindahl K; Kindmark A; Grigelioniene G; Astrom E; Malmgren B
Article: ORAL DISEASES. 2017;23(1):42-49
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes
Malmgren B; Andersson K; Lindahl K; Kindmark A; Grigelioniene G; Zachariadis V; Dahllof G; Astrom E
Article: SKELETAL RADIOLOGY. 2016;45(11):1557-1560
Autosomal recessive brachyolmia: early radiological findings
Handa A; Tham E; Wang Z; Horemuzova E; Grigelioniene G
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(8):1577-1585
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Taylan F; Costantini A; Coles N; Pekkinen M; Heon E; Siklar Z; Berberoglu M; Kampe A; Kiykim E; Grigelioniene G; Tuysuz B; Makitie O
Article: BONE. 2016;87:11-18
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate
Lindahl K; Kindmark A; Rubin C-J; Malmgren B; Grigelioniene G; Soderhall S; Ljunggren O; Astrom E
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(4):796-805
Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion
Takatani R; Molinaro A; Grigelioniene G; Tafaj O; Watanabe T; Reyes M; Sharma A; Singhal V; Raymond FL; Linglart A; Jueppner H
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E; Eklund EA; Hammarsjo A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albage M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
Article: ORPHANET JOURNAL OF RARE DISEASES. 2016;11:1
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Kuchinskaya E; Grigelioniene G; Hammarsjo A; Lee H-R; Hogberg L; Grigelionis G; Kim O-H; Nishimura G; Cho T-J
Article: PLOS ONE. 2016;11(3):e0150555
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
Wang Z; Iida A; Miyake N; Nishiguchi KM; Fujita K; Nakazawa T; Alswaid A; Albalwi MA; Kim O-H; Cho T-J; Lim G-Y; Isidor B; David A; Rustad CF; Merckoll E; Westvik J; Stattin E-L; Grigelioniene G; Kou I; Nakajima M; Ohashi H; Smithson S; Matsumoto N; Nishimura G; Ikegawa S
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1176-1185
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(8):1042-1050
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta
Lindahl K; Astrom E; Rubin C-J; Grigelioniene G; Malmgren B; Ljunggren O; Kindmark A
Article: CLINICAL GENETICS. 2015;87(3):273-278
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
Makitie O; Geiberger S; Horemuzova E; Hagenas L; Mostrom E; Nordenskjold M; Grigelioniene G; Nordgren A
Article: HORMONE RESEARCH IN PAEDIATRICS. 2015;83(5):361-364
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment
Reynaert N; Ockeloen CW; Savendahl L; Beckers D; Devriendt K; Kleefstra T; Carels CEL; Grigelioniene G; Nordgren A; Francois I; de Zegher F; Casteels K
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjold M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Anneren G; Arner M; Pettersson M; Jantti N; Rosberg H-E; Cattini PA; Nordenskjold A; Makitie O; Grigelioniene G; Nordgren A
Article: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2014;24(4):353-359
A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
Soderhall C; Lundin J; Lagerstedt-Robinson K; Grigelioniene G; Lackgren G; Kockum CC; Nordenskjold A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164(7):1635-1641
Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
Grigelioniene G; Geiberger S; Horemuzova E; Mostrom E; Jantti N; Neumeyer L; Astrom E; Nordenskjold M; Nordgren A; Makitie O
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161(10):2554-2558
The Phenotype Range of Achondrogenesis 1A
Grigelioniene G; Geiberger S; Papadogiannakis N; Makitie O; Nishimura G; Nordgren A; Conner P
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T; Lundin J; Anderlid B-M; Gorski JL; Grigelioniene G; Knight SJL; Krepischi ACV; Nordenskjold A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;92(6):990-995
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Unger S; Gorna MW; Le Bechec A; Do Vale-Pereira S; Bedeschi MF; Geiberger S; Grigelioniene G; Horemuzova E; Lalatta F; Lausch E; Magnan C; Nampoothiri S; Nishimura G; Petrella D; Rojas-Ringeling F; Utsunomiya A; Zabel B; Pradervand S; Harshman K; Campos-Xavier B; Bonafe L; Superti-Furga G; Stevenson B; Superti-Furga A
Article: HUMAN MUTATION. 2012;33(7):1063-1066
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Laurell T; VanderMeer JE; Wenger AM; Grigelioniene G; Nordenskjold A; Arner M; Ekblom AG; Bejerano G; Ahituv N; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011;155A(6):1404-1408
Extending the Phenotype of Lethal Skeletal Dysplasia Type al Gazali
Grigelioniene G; Papadogiannakis N; Conner P; Geiberger S; Nishikawa M; Nakayama M
Article: JOURNAL OF MEDICAL GENETICS. 2010;47(10):704-709
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
Dai J; Kim O-H; Cho T-J; Schmidt-Rimpler M; Tonoki H; Takikawa K; Haga N; Miyoshi K; Kitoh H; Yoo W-J; Choi I-H; Song H-R; Jin D-K; Kim H-T; Kamasaki H; Bianchi P; Grigelioniene G; Nampoothiri S; Minagawa M; Miyagawa S-I; Fukao T; Marcelis C; Jansweijer MCE; Hennekam RCM; Bedeschi F; Mustonen A; Jiang Q; Ohashi H; Furuichi T; Unger S; Zabel B; Lausch E; Superti-Furga A; Nishimura G; Ikegawa S
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009;149A(7):1407-1414
Clinical and Molecular Characterization of Duplications Encompassing the Human SHOX Gene Reveal a Variable Effect on Stature
Thomas NS; Harvey JF; Bunyan DJ; Rankin J; Grigelioniene G; Bruno DL; Tan TY; Tomkins S; Hastings R
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2009;84(2):188-196
Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
Heinz-Erian P; Mueller T; Krabichler B; Schranz M; Becker C; Rueschendorf F; Nuernberg P; Rossier B; Vujic M; Booth IW; Holmberg C; Wijmenga C; Grigelioniene G; Kneepkens CMF; Rosipal S; Mistrik M; Kappler M; Michaud L; Doczy L-C; Siu VM; Krantz M; Zoller H; Utermann G; Janecke AR
Article: BMC GENOMICS. 2007;8:1-16
Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus
Hansson CM; Buckley PG; Grigelioniene G; Piotrowski A; Hellstrom AR; Mantripragada K; Jarbo C; Mathiesen T; Dumanski JP
Article: ACTA RADIOLOGICA. 2005;46(2):200-207
Metacarpophalangeal pattern profile analysis in Leri-Weill dyschondrosteosis
Laurencikas E; Söderman E; Grigelioniene G; Hagenäs L; Jorulf H
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2003;116A(1):61-65
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
Ross JL; Bellus G; Scott CI; Abboudi J; Grigelioniene G; Zinn AR
Article: HUMAN GENETICS. 2001;109(5):551-558
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson SA; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson N; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
Article: ACTA PAEDIATRICA. 2000;89(9):1072-1076
Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia
Grigelioniené G; Eklöf O; Laurencikas E; Ollars B; Hertel NT; Dumanski JP; Hagenäs L
Article: HUMAN GENETICS. 2000;107(2):145-149
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia
Grigelioniene G; Eklöf O; Ivarsson SA; Westphal O; Neumeyer L; Kedra D; Dumanski J; Hagenäs L
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1999;84(1):370-373
Demonstration of estrogen receptor-β immunoreactivity in human growth plate cartilage
Nilsson LO; Boman A; Sävendahl L; Grigelioniene G; Ohlsson C; Ritzen EM; Wroblewski J
Journal article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 1999;84(1):370-373
Demonstration of Estrogen Receptor- Immunoreactivity in Human Growth Plate Cartilage
Nilsson LO
Article: HUMAN MUTATION. 1998;11(4):333
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia
Grigelioniene G; Hagenas L; Eklof O; Neumeyer L; Haereid PE; Anvret M
Journal article: HUMAN MUTATION. 1998;11(4):333
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
Balzano N; Villani GR; Grosso M; Izzo P; Di Natale P
Article: PEDIATRIC RESEARCH. 1996;40(6):809-814
Cerebrospinal fluid of newborn infants contains a deglycosylated form of the intermediate filament nestin
Grigelioniene G; Blennow M; Torok C; Fried G; Dahlin I; Lendahl U; Lagercrantz H
Journal article: PEDIATRIC RESEARCH. 1996;40(3):531
Intermediate Filament Nestin is Present in the Cerebrospinal Fluid of Children. 97
Grigelioniené G; Blennow M; Marchini G; Wahlquist Y; Lendahl U
Journal article: PEDIATRIC RESEARCH. 1996;39(Suppl 4):373
THE EMBRYONIC INTERMEDIATE FILAMENT PROTEIN NESTIN IS PRESENT IN THE CEREBROSPINAL FLUID OF NICU INFANTS. † 2223
Blennow M; Grigelioniené G; Török C; Lendahl U; Lagercrantz H
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All other publications

Report: NATURE GENETICS. 2024;56(11):2287-2294
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Saether KB; Hoijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjo A; Hammond CK; Ng OH; Hesketh S; Hettiarachchi D; Soller MJ; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Wiklander ML; Makay P; Maiga AB; Maya-Gonzalez C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjo S; Ottosson J; Ozbek U; Ozdemir O; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; de la Paz MP; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin E-L; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tumer Z; van Zelst-Stams WAG; Verloes A; Vasterviga E; Wang S; Yang R; Yamamoto S; Yepez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V; Lindstrand A; Buske OJ; Cederroth M; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:395-396
Inversion of LMX1B-a novel cause of nail-patella syndrome in a Swedish family
Lindelof H; Horemuzova E; Nordgren A; Voss U; Hammarsjo A; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
Genome Sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders
Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Miyahara H; Eriksson G; Ha T; Utine GE; Chiu T; Shimizu K; Hammarsjo A; Boduroglu K; Arts P; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
Published conference paper: RADIOGRAPHICS. 2021;41(1):192-209
Radiologic Features of Type II and Type XI Collagenopathies
Handa A; Grigelioniene G; Nishimura G
Editorial comment: EBIOMEDICINE. 2020;62:103091
Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways
Grigelioniene G; Nishimura G
Review: JAPANESE JOURNAL OF RADIOLOGY. 2020;38(3):193-206
Skeletal ciliopathies: a pattern recognition approach
Handa A; Voss U; Hammarsjo A; Grigelioniene G; Nishimura G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
Increased yield of genetic diagnoses in skeletal ciliopathies using massively parallel sequencing, structural variant and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Taylan F; Batkovskyte D; Anderlid B; Lin AE; Shimizu K; Beleza-Meireles A; Chung B; Voss U; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
Integration of genome sequencing into health care - experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities
Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
Conference publication: 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
G G; HI S; F T; F M; ZU B; UM A; S T; E H; A L; MA W; G G; A H; E M; A N; M N; DR E; ML W; G N; PA S; T K
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1272
KIAA0753 mutations in skeletal ciliopathies: unveiling disease mechanisms
Vaz R; Hammarsjo A; Taylan F; Chitayat D; Grigelioniene G; Lindstrand A
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533
Family trio analysis in rare syndromes - Clinical experience and outcome
Lagerstedt-Robinson K; Anderlid B; Nordgren A; Grigelioniene G; Kvarnung M; Gustavsson P; Tham E; Nilsson D; Soller MJ; Nordenskjold M; Lindstrand A; Malmgren H
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1830
A novel pathogenic TBX5 variant in a family with Holt-Oram syndrome: reverse phenotyping counts
Pacheco NP; Lagerstedt-Robinson K; Tesi B; Hammarsjo A; Mannila M; Lindstrand A; Grigelioniene G
Letter: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(7):1377-1378
Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information
Tham E; Grigelionis G; Hammarsjo A; Grigelioniene G
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
Experiences from whole genome sequencing in diagnostics - broad in silico panels and introducing structural variant detection
Nilsson D; Robinson KL; Malmgren H; Karlsson M; Gustavsson P; Hammarsjo A; Grigelioniene G; Arce MP; Tham E; Pigg MH; Anderlid B; Nordgren A; Jorholt J; Kvarnung M; Sejersen T; Lieden A; Lundin J; Eisfeldt J; Lindstrand A; Wirta V; Nordenskjold M
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675
Whole exome sequencing in rare syndromes using family trios - Clinical experience and outcome
Lagerstedt-Robinson K; Anderlid B; Nordgren A; Kvarnung M; Lindstrand A; Grigelioniene G; Tham E; Gustavsson P; Nilsson D; Nordenskjold M; Malmgren H
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(12):3132-3135
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome
Pekkinen M; Grigelioniene G; Akin L; Shah K; Karaer K; Kurtoglu S; Ekbote A; Aycan Z; Sagsak E; Danda S; Astrom E; Makitie O
Meeting abstract: MOLECULAR GENETICS AND METABOLISM. 2016;117(2):S107
Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients
Solyom A; Mitchell J; Ehlert K; Tanpaiboon P; Magnusson B; Grigelioniene G; Huegle B; Guelbert N; Arslan N; Makay B; Ozen S; Batu ED; Selim L; Hadipour Z; Hadipour F; Cuevas-Cid A; Puri R; Simonaro C; He X; Schuchman E
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170(1):266-269
Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu
Hammarsjo A; Nordgren A; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Wedren S; Nordenskjold M; Nishimura G; Grigelioniene G
Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1270
Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015)
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BWM; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RLE; Smeets EEJ; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJJ; van Heumen CC; Yntema HG; Carels CEL; Kleefstra T
Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(8):1112
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta (vol 23, pg 1112, 2015)
Lindahl K; Astroem E; Rubin C-J; Grigelioniene G; Malmgren B; Ljunggren O; Kindmark A
Meeting abstract: ANNALS OF THE RHEUMATIC DISEASES. 2015;74:838-839
FARBER DISEASE: FIRST NATURAL HISTORY COHORT DEMONSTRATES A BROAD CLINICAL SPECTRUM WITH IMPLICATIONS FOR JUVENILE IDIOPATHIC ARTHRITIS PATIENTS
Solyom A; Ehlert K; Huegle B; Magnusson B; Grigelioniene G; Guelbert N; Gardner-Medwin J; Tanpaiboon P; Jung L; Puri R; DiRocco M; Mitchell J; Beck M; Simonaro C; Schuchman E
Letter: CLINICAL GENETICS. 2015;87(5):496-498
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
Conference publication: ARTHRITIS & RHEUMATOLOGY. 2015;67
Farber Disease: Important Differential Diagnostic Information for JIA and Other Inflammatory Arthritis Phenotypes Is Revealed By Data from the Largest Clinical Cohort to Date
Solyom A; Huegle B; Magnusson B; Makay B; Arslan N; Mitchell J; Tanpaiboon P; Guelbert N; Puri R; Jung L; Grigelioniene G; Ehlert K; Beck M; Simonaro C; Schuchman E
Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2009;72:241
Genotype-phenotype variations in a family with an unique X to 15 rearrangement
Lindgren AC; Lindstrand A; Hagenas L; Malmgren H; Blennow E; Grigelioniene G
Conference publication: CHROMOSOME RESEARCH. 2009;17:187
Array-CGH as a method for detection of monogenic disorders
Anderlid B; Grigelioniene G; Schoumans J; Kvarnung M; Ann N
Book chapter: THE SKELETON. 2004;p. 349-359
Genetics of Achondroplasia and Hypochondroplasia
Grigelioniene G
Doctoral thesis: 2001
Clinical and genetic investigation of hypochondroplasia and dyschondrosteosis
Grigelioniene G
Published conference paper: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY. 2000;74(5):383-386
Estrogens and human growth
Ritzén EM; Nilsson O; Grigelioniene G; Holst M; Sävendahl L; Wroblewski J
Conference publication: PEDIATRIC RESEARCH. 1996;39(4):2223
The embryonic intermediate filament protein nestin is present in the cerebrospinal fluid of NICU infants.
Blennow M; Grigelioniene G; Torok C; Lendahl U; Lagercrantz F
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Grants

Congenital Skeletal Disorders: Clinical Characterization and Identification of Underlying Molecular Mechanisms
Stiftelsen Frimurare Barnhuset i Stockholm
1 September 2024 - 31 August 2025
Dramatic reduction of mice used for genetic manipulations employing novel technology for gene-targeting.
Swedish Research Council
1 January 2024 - 31 December 2026
Decoding the Genetic Landscape of Skeletal Diseases
Swedish Research Council
1 January 2023 - 31 December 2025
Congenital skeletal disorders: identification of molecular mechanisms and clinical characterisation.
Swedish Research Council
1 January 2019 - 31 December 2021

Employments

Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degrees and Education

Docent, Karolinska Institutet, 2017
Doctor Of Philosophy, Department of Women's and Children's Health, Karolinska Institutet, 2001

Supervision

Ida Nordgren, 2021
Hillevi Lindelöf, 2020
Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved, https://openarchive.ki.se/articles/thesis/Genetic_studies_of_rare_skeletal_disorders_to_solve_the_unsolved/26903353?file=48945721
Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis, https://openarchive.ki.se/articles/thesis/Genetic_causes_and_underlying_disease_mechanisms_in_early-onset_osteoporosis/26919550?file=48964903

About me

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