Emmanuelle Szenker-Ravi
Overview
Explore the profile of Emmanuelle Szenker-Ravi including associated specialties, affiliations and a list of published articles.
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Articles
17
Citations
217
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Recent Articles
1.
Szenker-Ravi E, Ott T, Yusof A, Chopra M, Khatoo M, Pak B, et al.
Am J Hum Genet
. 2025 Jan;
112(2):353-373.
PMID: 39753129
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ...
2.
Yap K, Hou Lim A, Thomas B, Bonnard C, Szenker-Ravi E, Chong Y, et al.
Respirol Case Rep
. 2024 Oct;
12(11):e70057.
PMID: 39479223
Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with mutations. We report a novel compound mutation in the gene in an...
3.
Chundru V, Zhang Z, Walter K, Lindsay S, Danecek P, Eberhardt R, et al.
Nat Genet
. 2024 Sep;
56(10):2046-2053.
PMID: 39313616
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of...
4.
Khabou B, Sahari U, Ben Issa A, Bouchaala W, Szenker-Ravi E, Ng A, et al.
J Hum Genet
. 2024 Jul;
69(11):591-597.
PMID: 38987656
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In this study, we reported...
5.
Derrick C, Szenker-Ravi E, Santos-Ledo A, Alqahtani A, Yusof A, Eley L, et al.
Hum Mol Genet
. 2023 Oct;
33(2):150-169.
PMID: 37815931
Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a diverse range of tissues and organs including the brain,...
6.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia P, Bonnard C, et al.
EMBO Mol Med
. 2023 Jan;
15(2):e16478.
PMID: 36652330
Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non-coding regions, which make up 98% of the genome, cannot be captured....
7.
Hein R, Wu J, Holloway E, Frum T, Conchola A, Tsai Y, et al.
Dev Cell
. 2022 Jun;
57(13):1598-1614.e8.
PMID: 35679862
The human respiratory epithelium is derived from a progenitor cell in the distal buds of the developing lung. These "bud tip progenitors" are regulated by reciprocal signaling with surrounding mesenchyme;...
8.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Xuan Goh W, Chong Y, et al.
Nat Genet
. 2022 Mar;
54(6):906.
PMID: 35304595
No abstract available.
9.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Xuan Goh W, Chong Y, et al.
Nat Genet
. 2021 Dec;
54(1):62-72.
PMID: 34903892
The vertebrate left-right axis is specified during embryogenesis by a transient organ: the left-right organizer (LRO). Species including fish, amphibians, rodents and humans deploy motile cilia in the LRO to...
10.
Chai G, Szenker-Ravi E, Chung C, Li Z, Wang L, Khatoo M, et al.
N Engl J Med
. 2021 Sep;
385(14):1292-1301.
PMID: 34587386
Background: Structural birth defects occur in approximately 3% of live births; most such defects lack defined genetic or environmental causes. Despite advances in surgical approaches, pharmacologic prevention remains largely out...