Bertrand Isidor
Overview
Explore the profile of Bertrand Isidor including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
319
Citations
6052
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Schmid C, Gregor A, Ruiz A, Manso Bazus C, Herman I, Ammouri F, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39668183
While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled...
12.
Berger E, Jauss R, Ranells J, Zonic E, von Wintzingerode L, Wilson A, et al.
Genet Med
. 2024 Nov;
:101326.
PMID: 39540377
Purpose: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of...
13.
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...
14.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, et al.
Calcif Tissue Int
. 2024 Sep;
115(5):591-598.
PMID: 39316135
Osteoporosis is a skeletal disorder characterized by abnormal bone microarchitecture and low bone mineral density (BMD), responsible for an increased risk of fractures and skeletal fragility. It is a common...
15.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
Ann Neurol
. 2024 Sep;
PMID: 39301775
Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed...
16.
Ham H, Jing H, Lamborn I, Kober M, Koval A, Berchiche Y, et al.
Science
. 2024 Sep;
385(6715):eadd8947.
PMID: 39298586
Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in , which encodes G, a key component in heterotrimeric G...
17.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas M, Yang J, et al.
Sci Adv
. 2024 Sep;
10(37):eado5545.
PMID: 39270020
Inositol 1,4,5-trisphosphate (IP3) receptor type 1 (), (), and () encode the IP3 receptor (IP3R), a key player in intracellular calcium release. In four unrelated patients, we report that an...
18.
Jury J, Benoist J, Joubert M, Quelin C, Besnard T, Conrad S, et al.
Clin Genet
. 2024 Sep;
106(6):776-781.
PMID: 39221916
Glutathione synthetase deficiency is a rare inborn metabolic disease usually caused by biallelic variants in GSS. Clinical severity varies from isolated hemolytic anemia, sometimes associated with chronic metabolic acidosis and...
19.
Cuinat S, Bezieau S, Deb W, Mercier S, Vignard V, Isidor B, et al.
Genes Dis
. 2024 Sep;
11(6):101130.
PMID: 39220754
The recent advances in high throughput sequencing technology have drastically changed the practice of medical diagnosis, allowing for rapid identification of hundreds of genes causing human diseases. This unprecedented progress...
20.
Chettle J, Louie R, Larner O, Best R, Chen K, Morris J, et al.
HGG Adv
. 2024 Aug;
5(4):100345.
PMID: 39182167
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single...