Daniel L Polla
Overview
Explore the profile of Daniel L Polla 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
11
Citations
194
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.
Bertoli-Avella A, Radefeldt M, Al-Ali R, Pardo L, Lemke S, Leubauer A, et al.
Eur J Hum Genet
. 2025 Jan;
PMID: 39870877
We aimed to assess the impact of splicing variants reported in our laboratory to gain insight into their clinical relevance. A total of 108 consecutive individuals, for whom 113 splicing...
2.
Rus C, Polla D, Di Bucchianico S, Fischer S, Hartkamp J, Hartmann G, et al.
Sci Rep
. 2023 Oct;
13(1):18550.
PMID: 37899458
Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6...
3.
Polla D, Edmondson A, Duvet S, March M, Sousa A, Lehman A, et al.
Am J Hum Genet
. 2021 Jun;
108(7):1342-1349.
PMID: 34143952
EDEM3 encodes a protein that converts ManGlcNAc isomer B to ManGlcNAc. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be...
4.
Polla D, Fard M, Tabatabaei Z, Habibzadeh P, Levchenko O, Nikuei P, et al.
Genet Med
. 2021 Apr;
23(7):1246-1254.
PMID: 33824500
Purpose: To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder. Methods: A combination of exome sequencing and gene matching tools was used to identify...
5.
Vissers L, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, et al.
Am J Hum Genet
. 2020 Jun;
107(1):164-172.
PMID: 32553196
CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals with heterozygous de novo...
6.
Dias C, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, et al.
Am J Hum Genet
. 2019 Nov;
105(5):1048-1056.
PMID: 31668703
NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing...
7.
Richard E, Polla D, Assir M, Contreras M, Shahzad M, Khan A, et al.
Am J Hum Genet
. 2019 Oct;
105(4):869-878.
PMID: 31564433
Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized by limited cognitive abilities and impaired adaptive behaviors. In recent years, exome sequencing (ES) has been instrumental in deciphering...
8.
Polla D, Rahikkala E, Bode M, Maatta T, Varilo T, Loman T, et al.
Eur J Hum Genet
. 2019 Sep;
28(4):532.
PMID: 31506600
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
9.
Polla D, Saunders H, de Vries B, van Bokhoven H, de Brouwer A
Mol Genet Genomic Med
. 2019 Aug;
7(10):e00861.
PMID: 31414730
Background: Eight different deletions and point variants of the X-chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a...
10.
Polla D, Rahikkala E, Bode M, Maatta T, Varilo T, Loman T, et al.
Eur J Hum Genet
. 2019 Mar;
27(8):1235-1243.
PMID: 30914828
Intellectual disability (ID), megalencephaly, frontal predominant pachygyria, and seizures, previously called "thin" lissencephaly, are reported to be caused by recessive variants in CRADD. Among five families of different ethnicities identified,...