Candy Kumps
Overview
Explore the profile of Candy Kumps including associated specialties, affiliations and a list of published articles.
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Articles
34
Citations
673
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Recent Articles
1.
Sabeh P, Dumas S, Maios C, Daghar H, Korzeniowski M, Rousseau J, et al.
Am J Hum Genet
. 2024 Dec;
112(1):75-86.
PMID: 39721588
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29...
2.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med
. 2024 Dec;
27(4):101347.
PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
3.
Kumps C, Dhaenens E, Kerkhof J, McConkey H, Alders M, Sadikovic B, et al.
Eur J Hum Genet
. 2023 Sep;
31(12):1350-1354.
PMID: 37736838
No abstract available.
4.
Christensen M, Levy A, Mohammadi N, Niceta M, Kaiyrzhanov R, Dentici M, et al.
Clin Genet
. 2022 May;
102(2):98-109.
PMID: 35616059
Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from...
5.
Coursimault J, Guerrot A, Morrow M, Schramm C, Zamora F, Shanmugham A, et al.
Hum Genet
. 2021 Nov;
141(1):65-80.
PMID: 34748075
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo...
6.
Li D, March M, Fortugno P, Cox L, Matsuoka L, Monetta R, et al.
Hum Genet
. 2021 Apr;
140(7):1061-1076.
PMID: 33811546
Teebi hypertelorism syndrome (THS; OMIM 145420) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of THS have been...
7.
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli M, Pinto A, et al.
Clin Genet
. 2020 Dec;
99(3):462-474.
PMID: 33368194
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype...
8.
Kumps C, Dhaenens E, Vergult S, Leus J, Van Coster R, Jansen A, et al.
Clin Genet
. 2020 Dec;
99(3):449-456.
PMID: 33340101
Pathogenic variants in the RBM10 gene cause a rare X-linked disorder described as TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left vena cava superior) syndrome. We report...
9.
Monaghan T, Bliwise D, Denys M, Goessaert A, Decalf V, Kumps C, et al.
Age Ageing
. 2020 Feb;
49(3):439-445.
PMID: 32043123
Background: this study compares diuresis rate, sodium clearance and free water clearance (FWC) by age and time of day (nighttime vs. daytime) in subjects with and without nocturnal polyuria (NP)...
10.
Mus L, Lambertz I, Claeys S, Kumps C, Van Loocke W, Van Neste C, et al.
Sci Rep
. 2020 Jan;
10(1):218.
PMID: 31937834
Neuroblastoma is an aggressive childhood cancer arising from sympatho-adrenergic neuronal progenitors. The low survival rates for high-risk disease point to an urgent need for novel targeted therapeutic approaches. Detailed molecular...