Daniel C Koboldt
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Explore the profile of Daniel C Koboldt including associated specialties, affiliations and a list of published articles.
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113
Citations
21765
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Recent Articles
1.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
Nat Commun
. 2025 Feb;
16(1):1703.
PMID: 39962046
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by...
2.
Showpnil I, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, et al.
NPJ Genom Med
. 2024 Dec;
9(1):66.
PMID: 39695126
Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting complex genomic rearrangements. Here we used Pacific Biosciences circular consensus sequencing to resolve complex rearrangements...
3.
Ramadesikan S, Showpnil I, Marhabaie M, Daley A, Varga E, Gurusamy U, et al.
HGG Adv
. 2024 Nov;
6(1):100379.
PMID: 39497417
De novo variants in CSNK2A1 cause autosomal dominant Okur-Chung neurodevelopmental syndrome (OCNDS). OCNDS has an evolving clinical phenotype predominantly characterized by intellectual disability, global delays, dysmorphic features, and immunological manifestations....
4.
Gong M, Li J, Qin Z, Machado Bressan Wilke M, Liu Y, Li Q, et al.
Am J Hum Genet
. 2024 Oct;
111(11):2392-2410.
PMID: 39419027
Microtubule affinity-regulating kinase 2 (MARK2) contributes to establishing neuronal polarity and developing dendritic spines. Although large-scale sequencing studies have associated MARK2 variants with autism spectrum disorder (ASD), the clinical features...
5.
Seaby E, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, et al.
Brain
. 2024 Oct;
PMID: 39405200
DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes...
6.
Stojkic I, Prince B, Kuehn H, Gil Silva A, Varga E, Rosenzweig S, et al.
Clin Immunol
. 2024 May;
264:110244.
PMID: 38734037
Common variable immune deficiency (CVID) is a heterogenous group of disorders characterized by varying degrees of hypogammaglobulinemia, recurrent infections, and autoimmunity. Currently, pathogenic variants are identified in approximately 20-30% of...
7.
Bhat S, Rousseau J, Michaud C, Lourenco C, Stoler J, Louie R, et al.
Am J Hum Genet
. 2024 Mar;
111(4):761-777.
PMID: 38503299
Ion channels mediate voltage fluxes or action potentials that are central to the functioning of excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) consists of...
8.
Gurusamy U, Ramadesikan S, Marhabaie M, Colwell C, Hunter J, Leung M, et al.
Front Genet
. 2024 Feb;
14:1298574.
PMID: 38304066
Leigh syndrome is a rare, genetic, and severe mitochondrial disorder characterized by neuromuscular issues (ataxia, seizure, hypotonia, developmental delay, dystonia) and ocular abnormalities (nystagmus, atrophy, strabismus, ptosis). It is caused...
9.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
medRxiv
. 2024 Jan;
PMID: 38260255
encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene...
10.
Miller K, Rivaldi A, Shinagawa N, Sran S, Navarro J, Westfall J, et al.
Nat Genet
. 2023 Oct;
55(11):1920-1928.
PMID: 37872450
Somatic mosaicism is a known cause of neurological disorders, including developmental brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic genetic alterations arising in fetal development. Here we...