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Publikationer

Publikationer Sällsyntafonden stödjer.

2023

Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis
13 April 2023
Handa A, Grigelioniene G, Nishimura G. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067. PMID: 37053103. 

Expanding the phenotype of Seckel syndrome associatedwith biallelic loss-of-function variants inCEP63
5 April 2023
Pekkola Pacheco N, Pettersson M, Lindstrand A, Grigelioniene G. Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63. Am J Med Genet A. 2023 Apr 5. doi: 10.1002/ajmg.a.63200. Epub ahead of print. PMID: 37017437.

Al-Gazali Skeletal Dysplasia Constitutes the Lethal EndofADAMTSL2-Related Disorders
10 March 2023
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, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö 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. Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. J Bone Miner Res. 2023 Mar 10.  PMID: 36896612. doi: 10.1002/jbmr.4799.

Social feedback enhances learning in Williams syndrome
24 januari 2023
Kleberg JL, Willfors C, Björlin Avdic H, Riby D, Galazka MA, Guath M, Nordgren A, Strannegård C. Social feedback enhances learning in Williams syndrome. Sci Rep. 2023 Jan 4;13(1):164. doi: 10.1038/s41598-022-26055-8. PMID: 36599864; PMCID: PMC9813264.  

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
12 January 2023
Young C, Batkovskyte D, Kitamura M, Shvedova M, Mihara Y, Akiba J, Zhou W, Hammarsjö A, Nishimura G, Yatsuga S, Grigelioniene G, Kobayashi T. A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay. HGG Adv. 2022 Oct 4;4(1):100148. doi: 10.1016/j.xhgg.2022.100148. PMID: 36299998; PMCID: PMC9589026.

 

2022

Genome sequencing is a sensitive first-line test to
diagnose individuals with intellectual disability
6 September 2022
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. PMID: 36066546.

Complex genomic rearrangements: an underestimated cause of rare diseases
8 July 2022.
Schuy J, Grochowski CM, Carvalho CMB, Lindstrand A. Complex genomic rearrangements: an underestimated cause of rare diseases. Trends Genet. 2022 Nov;38(11):1134-1146. doi: 10.1016/j.tig.2022.06.003. Epub 2022 Jul 9. PMID: 35820967; PMCID: PMC9851044.

Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
13 june 2022
Lindelöf H, Horemuzova E, Voss U, Nordgren A, Grigelioniene G, Hammarsjö A. Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up. Front Endocrinol (Lausanne). 2022 Jun 13;13:862908. doi: 10.3389/fendo.2022.862908. PMID: 35769074; PMCID: PMC9235307. 

Williams syndrome: reduced orienting to other’s eyes in a hypersocial phenotype
31 March 2022
Kleberg JL, Riby D, Fawcett C, Björlin Avdic H, Frick MA, Brocki KC, Högström J, Serlachius E, Nordgren A, Willfors C. Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype. J Autism Dev Disord. 2022 Apr 20:1–12. doi: 10.1007/s10803-022-05563-6. Epub ahead of print. PMID: 35445369; PMCID: PMC9020553. 

Expanding the mutation and phenotype spectrum of
MYH3-associated skeletal disorders
15 February 2022
Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, Liu S, Lindelöf H, Wang S, Hammarsjö 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 BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhang TJ, Grigelioniene G, Wu N. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med. 2022 Feb 15;7(1):11. doi: 10.1038/s41525-021-00273-x. PMID: 35169139; PMCID: PMC8847563.

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
4 February 2022
Frisk S, Wachtmeister A, Laurell T, Lindstrand A, Jäntti N, Malmgren H, Lagerstedt-Robinson K, Tesi B, Taylan F, Nordgren A. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Mol Genet Genomic Med. 2022 Apr;10(4):e1880. doi: 10.1002/mgg3.1880. Epub 2022 Feb 4. PMID: 35118825; PMCID: PMC9000944. 

A somatic UBA2 variant preceded ETV6-RUNX1 in the
concordant BCP-ALL of monozygotic twins
4 January 2022 
Bang B, Eisfeldt J, Barbany G, Harila-Saari A, Heyman M, Zachariadis V, Taylan F, Nordgren A. A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins. Blood Adv. 2022 Jan 4:bloodadvances.2021005703. doi: 10.1182/bloodadvances.2021005703. Epub ahead of print. PMID: 34982829

2021

Williams syndrome: on the role of intellectual abilities in anxiety
7 november 2021
Willfors C, Riby DM, van der Poll M, Ekholm K, Avdic Björlin H, Kleberg JL, Nordgren A. Williams syndrome: on the role of intellectual abilities in anxiety. Orphanet J Rare Dis. 2021 Nov 7;16(1):472. doi: 10.1186/s13023-021-02098-4. PMID: 34743752; PMCID: PMC8573929. 

SLC4A2Deficiency Causes a New Type of Osteopetrosis
20 October 2021
Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L. SLC4A2 Deficiency Causes a New Type of Osteopetrosis. J Bone Miner Res. 2022 Feb;37(2):226-235. doi: 10.1002/jbmr.4462. Epub 2021 Nov 11. PMID: 34668226.

 

Sidan uppdaterad: 2023-04-10

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