Damien Sanlaville
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Explore the profile of Damien Sanlaville including associated specialties, affiliations and a list of published articles.
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221
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4238
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Recent Articles
1.
Essid M, Karoui S, Zribi M, Ben Younes T, Januel L, Lafont E, et al.
Clin Genet
. 2025 Feb;
PMID: 39993789
Kohlschütter-Tönz Syndrome (KTS) is an ultra-rare autosomal recessive disorder, characterized by a clinical triad: infantile-onset epilepsy, global developmental delay, and amelogenesis imperfecta. KTS is caused by pathogenic variants in ROGDI,...
2.
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...
3.
Ganesh V, Riquin K, Chatron N, Yoon E, Lamar K, Aziz M, et al.
N Engl J Med
. 2024 Oct;
391(16):1511-1518.
PMID: 39442041
encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in...
4.
LaFlamme C, Rastin C, Sengupta S, Pennington H, Russ-Hall S, Schneider A, et al.
Nat Commun
. 2024 Aug;
15(1):6524.
PMID: 39107278
Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but remain...
5.
Viora-Dupont E, Robert F, Chassagne A, Pelissier A, Staraci S, Sanlaville D, et al.
Eur J Hum Genet
. 2024 May;
32(9):1166-1183.
PMID: 38802530
Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set...
6.
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...
7.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, et al.
Epilepsia Open
. 2024 Mar;
9(3):951-959.
PMID: 38544349
Objectives: Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non-dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic...
8.
Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, et al.
Am J Med Genet A
. 2024 Mar;
194(7):e63580.
PMID: 38511524
Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2,...
9.
Ganesh V, Riquin K, Chatron N, Lamar K, Aziz M, Monin P, et al.
medRxiv
. 2024 Mar;
PMID: 38496558
Genes encoding long non-coding RNAs (lncRNAs) comprise a large fraction of the human genome, yet haploinsufficiency of a lncRNA has not been shown to cause a Mendelian disease. is a...
10.
Jourdy Y, Chatron N, Fretigny M, Zawadzki C, Lienhart A, Stieltjes N, et al.
J Thromb Haemost
. 2024 Mar;
22(6):1616-1626.
PMID: 38484912
Background: No F8 genetic abnormality is detected in approximately 1% to 2% of patients with severe hemophilia A (HA) using conventional genetic approaches. In these patients, deep intronic variation or...