Britt-Marie Anderlid
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Explore the profile of Britt-Marie Anderlid including associated specialties, affiliations and a list of published articles.
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84
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2160
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Recent Articles
1.
Ek M, Kvarnung M, Pettersson M, Johansson Soller M, Anderlid B, Thonberg H, et al.
Sci Rep
. 2024 Dec;
14(1):30343.
PMID: 39639090
Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The...
2.
Mastropasqua F, Oksanen M, Soldini C, Alatar S, Arora A, Ballarino R, et al.
Biol Open
. 2023 Oct;
12(10).
PMID: 37815090
Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U (HNRNPU) have been identified in several neurodevelopmental disorders (NDDs). HNRNPU is widely expressed in the human brain and shows the highest postnatal expression...
3.
Nordenskjold A, Lagerstedt-Robinson K, Anderlid B, Lundin J
Eur J Med Genet
. 2023 Aug;
66(10):104824.
PMID: 37633646
We describe a boy born with hypospadias and later diagnosed with vesicoureteral reflux and mild cognitive disability. Routine diagnostic investigation by karyotyping, chromosomal microarray (CMA) and trio analysis with whole...
4.
Kolbjer S, Martin Munoz D, Ortqvist A, Pettersson M, Hammarsjo A, Anderlid B, et al.
Brain Commun
. 2023 Aug;
5(4):fcad213.
PMID: 37614989
Polymicrogyria is estimated to be one of the most common brain malformations, accounting for ∼16% of malformations of cortical development. However, the prevalence and incidence of polymicrogyria is unknown. Our...
5.
Ek M, Nilsson D, Engvall M, Malmgren H, Thonberg H, Pettersson M, et al.
Front Neurol
. 2023 Jun;
14:1170005.
PMID: 37273706
Introduction: Neuromuscular disorders (NMDs) have a heterogeneous etiology. A genetic diagnosis is key to personalized healthcare and access to targeted treatment for the affected individuals. Methods: In this study, 861...
6.
Koza S, Tabet A, Bonaglia M, Andres S, Anderlid B, Aten E, et al.
Eur J Med Genet
. 2023 Apr;
66(7):104773.
PMID: 37120077
This paper focuses on genetic counselling in Phelan-McDermid syndrome (PMS), a rare neurodevelopmental disorder caused by a deletion 22q13.3 or a pathogenic variant in SHANK3. It is one of a...
7.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, et al.
Genet Med
. 2023 Apr;
25(8):100856.
PMID: 37092537
Purpose: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental...
8.
Gazdagh G, Hunt D, Gonzalez A, Rodriguez M, Chaudhry A, Madruga M, et al.
Am J Med Genet A
. 2023 Mar;
191(7):1722-1740.
PMID: 36987741
The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to...
9.
Lindstrand A, Ek M, Kvarnung M, Anderlid B, Bjorck E, Carlsten J, et al.
Genet Med
. 2022 Sep;
24(11):2296-2307.
PMID: 36066546
Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines...
10.
Verberne E, van der Laan L, Haghshenas S, Rooney K, Levy M, Alders M, et al.
Int J Mol Sci
. 2022 Jul;
23(14).
PMID: 35887345
(Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial features. encodes...