Patrick Callier
Overview
Explore the profile of Patrick Callier including associated specialties, affiliations and a list of published articles.
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102
Citations
1744
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Recent Articles
1.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...
2.
Georgievski A, Bellaye P, Tournier B, Choubley H, Pais de Barros J, Herbst M, et al.
Cell Death Dis
. 2024 May;
15(5):328.
PMID: 38734740
We created valrubicin-loaded immunoliposomes (Val-ILs) using the antitumor prodrug valrubicin, a hydrophobic analog of daunorubicin. Being lipophilic, valrubicin readily incorporated Val-lLs that were loaded with specific antibodies. Val-ILs injected intravenously...
3.
Billes A, Pujalte M, Jedraszak G, Amsallem D, Boudry-Labis E, Boute O, et al.
Clin Genet
. 2024 Apr;
106(3):234-246.
PMID: 38561231
Xq28 int22h-1/int22h-2 duplication is the result of non-allelic homologous recombination between int22h-1/int22h-2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent...
4.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, et al.
Am J Hum Genet
. 2023 Nov;
110(12):2015-2028.
PMID: 37979581
We examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents contributing to neurodevelopmental disease risk in children....
5.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, et al.
medRxiv
. 2023 Jun;
PMID: 37292616
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in...
6.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, et al.
Am J Hum Genet
. 2023 Apr;
110(5):790-808.
PMID: 37071997
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative...
7.
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, et al.
Front Cell Dev Biol
. 2023 Mar;
11:1021920.
PMID: 36926521
Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OMIM (Online...
8.
Chevarin M, Alcantara D, Albuisson J, Collonge-Rame M, Populaire C, Selmani Z, et al.
Oncotarget
. 2023 Feb;
14:111-125.
PMID: 36749285
In oncogenetics, some patients could be considered as "extreme phenotypes", such as those with very early onset presentation or multiple primary malignancies, unusually high numbers of cancers of the same...
9.
Colin E, Duffourd Y, Tisserant E, Relator R, Bruel A, Mau-Them F, et al.
Front Cell Dev Biol
. 2022 Nov;
10:1021785.
PMID: 36393831
Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of...
10.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, et al.
Am J Med Genet A
. 2022 Nov;
191(2):445-458.
PMID: 36369750
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion...