Carol Saunders
Overview
Explore the profile of Carol Saunders 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
55
Citations
657
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
1.
Le C, Argilli E, George E, Kalayci T, Uyguner Z, Karaman B, et al.
medRxiv
. 2024 Nov;
PMID: 39502664
encodes a Class II basic helix-loop-helix transcription factor (bHLH). It is expressed exclusively in the retina and central nervous system (CNS), and functions as an important regulator of retinogenesis and...
2.
Del Viso F, Zhou D, Starling S, Fleming E, Saunders C
Am J Med Genet A
. 2024 Sep;
197(2):e63886.
PMID: 39305124
Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may...
3.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, et al.
Nat Commun
. 2024 Sep;
15(1):7909.
PMID: 39256359
Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively...
4.
Banks E, Francis V, Lin S, Kharfallah F, Fonov V, Levesque M, et al.
Nat Commun
. 2024 Aug;
15(1):7239.
PMID: 39174524
Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a...
5.
Fellmann F, Saunders C, ODonohue M, Reid D, McFadden K, Montel-Lehry N, et al.
JCI Insight
. 2024 Aug;
9(17).
PMID: 39088281
Diamond-Blackfan anemia syndrome (DBA) is a ribosomopathy associated with loss-of-function variants in more than 20 ribosomal protein (RP) genes. Here, we report the genetic, functional, and biochemical dissection of 2...
6.
Banks E, Francis V, Lin S, Kharfallah F, Fonov V, Levesque M, et al.
medRxiv
. 2024 Feb;
PMID: 38352438
Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of epilepsies in which altered brain development leads to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopment....
7.
Coffman K, Engleman K, Shaffer E, Allison T, Saunders C
Pediatr Neurol
. 2023 May;
144:78-79.
PMID: 37196599
No abstract available.
8.
Amudhavalli S, Paolillo V, Lawson C, Patterson M, Kussmann J, Nopper A, et al.
Am J Med Genet A
. 2023 Feb;
191(5):1425-1429.
PMID: 36814386
Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre-mRNA processing U-rich small nuclear ribonuclear...
9.
Palmer E, Pusch M, Picollo A, Forwood C, Nguyen M, Suckow V, et al.
Mol Psychiatry
. 2022 Nov;
28(2):668-697.
PMID: 36385166
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype...
10.
Del Viso F, Zhou D, Thiffault I, Lawson C, Cross L, Jenkins J, et al.
Am J Med Genet A
. 2022 Oct;
191(1):259-264.
PMID: 36301021
De novo variants in FOXP4 were recently associated with a neurodevelopmental disorder characterized by speech and language delay, growth abnormalities, hypotonia, and variable congenital abnormalities, including congenital diaphragmatic hernia, cervical...