Pauline Burger
Overview
Explore the profile of Pauline Burger including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
73
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Recent Articles
1.
Baer S, Rebert M, Burger P, Mandel J, Villeneuve N, Gibaud M, et al.
Eur J Paediatr Neurol
. 2025 Jan;
54:121-129.
PMID: 39889538
SLC6A1 (Solute Carrier Family 6 Member 1) variants are associated with SLC6A1-neurodevelopmental disorders (SLC6A1-NDD), which manifest as early-onset epilepsy, intellectual developmental disorder, and autism spectrum disorder. There have been over...
2.
Colin F, Burger P, Mazzucotelli T, Strehle A, Kummeling J, Collot N, et al.
Genet Med Open
. 2024 Dec;
1(1):100817.
PMID: 39669247
Purpose: GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent...
3.
Trinel M, Dubois C, Burger P, Plainfosse H, Azoulay S, Verger-Dubois G, et al.
Chem Biodivers
. 2024 Sep;
22(1):e202402139.
PMID: 39316583
Ostrya carpinifolia L., a member of the Betulaceae family, is a tree endemic to the Mediterranean basin that is well known for the hardness of its wood. In this study,...
4.
Draksler T, Bouman A, Gucek A, Novak E, Burger P, Colin F, et al.
Eur J Med Genet
. 2024 Sep;
72:104974.
PMID: 39299514
Kleefstra syndrome (KLEFS1) is a rare genetic neurodevelopmental disorder affecting multiple body systems. It continues to be under-researched, and its prevalence remains unknown. This paper builds on the international KLEFS1...
5.
Forbes E, Morison L, Lelik F, Howell T, Debono S, Goel H, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2024 Feb;
195(6):e32971.
PMID: 38421120
Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies....
6.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N, Abou Jamra R, Afenjar A, et al.
Mol Genet Genomic Med
. 2024 Jan;
12(1):e2363.
PMID: 38284452
Introduction And Methods: We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. Results: These two series include several symptoms...
7.
Shalev D, Koolen D, de Vries B, Blum Meirovitch S, Mandel J, Burger P, et al.
Can J Ophthalmol
. 2023 Dec;
59(6):e796-e802.
PMID: 38145626
Objectives: Koolen-de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited....
8.
Mollereau B, Hayflick S, Escalante R, Mauthe M, Papandreou A, Iuso A, et al.
Autophagy
. 2023 Aug;
19(12):3234-3239.
PMID: 37565733
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disease associated with severe cognitive and motor deficits. BPAN pathophysiology and phenotypic spectrum are still emerging due to the fact that mutations...
9.
Bouman A, Bouwmeester R, van Vlimmeren L, Burger P, Mandel J, de Vries B, et al.
Am J Med Genet A
. 2023 Jun;
191(9):2346-2355.
PMID: 37350176
The Koolen-de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual disability, characteristic facial features, epilepsy, cardiovascular and urogenital malformations, and various musculoskeletal disorders. Scoliosis is a...
10.
Burger P, Colin F, Strehle A, Mazzucotelli T, Collot N, Coutelle R, et al.
J Neural Transm (Vienna)
. 2022 Nov;
130(3):459-471.
PMID: 36436153
Intellectual disability with or without manifestations of autism and/or epilepsy affects 1-2% of the population, and it is estimated that more than 30-50% of these cases have a single genetic...