Carol Saunders
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Explore the profile of Carol Saunders including associated specialties, affiliations and a list of published articles.
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55
Citations
657
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Recent Articles
11.
Li J, Lei W, Zhang P, Rapaport F, Seeleuthner Y, Lyu B, et al.
J Exp Med
. 2021 Sep;
218(11).
PMID: 34473196
Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of common variable immunodeficiency (CVID). However, the causal link between NFKB1 variants and CVID has not...
12.
Berrios C, Hurley E, Willig L, Thiffault I, Saunders C, Pastinen T, et al.
Genet Med
. 2021 Jul;
23(12):2289-2299.
PMID: 34257423
Purpose: Efforts have been made to standardize laboratory variant interpretation, but clinicians are ultimately tasked with clinical correlation and application of genetic test results in patient care. This study aimed...
13.
Cadieux-Dion M, Gannon J, Newell B, Nopper A, Jenkins J, Heese B, et al.
Pediatr Dermatol
. 2021 Apr;
38(3):655-658.
PMID: 33870574
Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life-threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is...
14.
Cadieux-Dion M, Hughes S, Engleman K, Rush E, Saunders C
Am J Med Genet A
. 2021 Feb;
185(5):1515-1518.
PMID: 33559401
Nager syndrome epitomizes the acrofacial dysostoses, which are characterized by craniofacial and limb defects. The craniofacial defects include midfacial retrusion, downslanting palpebral fissures, prominent nasal bridge, and micrognathia. Limb malformations...
15.
Drivas T, Li D, Nair D, Alaimo J, Alders M, Altmuller J, et al.
Eur J Hum Genet
. 2020 Jun;
28(10):1422-1431.
PMID: 32483341
There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported...
16.
Thiffault I, Atherton A, Heese B, Abdelmoity A, Pawar K, Farrow E, et al.
Cold Spring Harb Mol Case Stud
. 2020 May;
6(3).
PMID: 32358097
Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the...
17.
Gallo V, Cirillo E, Prencipe R, Lepore A, Del Vecchio L, Scalia G, et al.
J Clin Med
. 2020 Mar;
9(3).
PMID: 32192142
Very high IgM levels represent the hallmark of hyper IgM (HIGM) syndromes, a group of primary immunodeficiencies (PIDs) characterized by susceptibility to infections and malignancies. Other PIDs not fulfilling the...
18.
Jacobson J, Willig L, Gatti J, Strickland J, Egan A, Saunders C, et al.
Endocrinology
. 2020 Feb;
161(5).
PMID: 32010941
Differences of sex development (DSDs) are a constellation of conditions that result in genital ambiguity or complete sex reversal. Although determining the underlying genetic variants can affect clinical management, fewer...
19.
Kang S, Vanoye C, Misra S, Echevarria D, Calhoun J, OConnor J, et al.
Ann Neurol
. 2019 Oct;
86(6):899-912.
PMID: 31600826
Objective: Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number of KCNB1 variants...
20.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, et al.
Am J Hum Genet
. 2019 Jul;
105(3):631-639.
PMID: 31353024
Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay,...