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» Authors » Meena Balasubramanian

Meena Balasubramanian

Explore the profile of Meena Balasubramanian including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 98
Citations 1060
Followers 0
Related Specialties
Genetics
Neurology
Pediatrics
Top 10 Co-Authors
Michael J Parker
Nicholas J Bishop
Paul Arundel
Kath Smith
Emily Woods
Farah Kanani
Michael Spiller
Schaida Schirwani
Bart E Wagner
Shadi Albaba
Published In
Am J Med Genet A
Clin Dysmorphol
Clin Genet
Eur J Hum Genet
Eur J Med Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
Copeland H, Low K, Wynn S, Ahmed A, Arthur V, Balasubramanian M, et al.
Genet Med Open . 2025 Jan; 2():101864. PMID: 39822267
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Methods: Individuals in the Deciphering Developmental Disorders study who had a...
2.
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations
Jeanne M, Ronce N, Remize S, Arpin S, Baujat G, Breton S, et al.
J Med Genet . 2025 Jan; PMID: 39798962
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom...
3.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, et al.
Genet Med . 2024 Dec; 27(3):101348. PMID: 39737487
Purpose: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental...
4.
"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project
Stafford-Smith B, Gurasashvili J, Peter M, Daniel M, Balasubramanian M, Bownass L, et al.
Eur J Hum Genet . 2024 Nov; PMID: 39496896
Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In...
5.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
Rots D, Bouman A, Yamada A, Levy M, Dingemans A, de Vries B, et al.
Am J Hum Genet . 2024 Jul; 111(8):1605-1625. PMID: 39013458
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1...
6.
Clinical and molecular characterization of patients with YWHAG-related epilepsy
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, et al.
Epilepsia . 2024 Mar; 65(5):1439-1450. PMID: 38491959
Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial...
7.
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism
Woods E, Holmes N, Albaba S, Evans I, Balasubramanian M
Clin Genet . 2024 Feb; 105(5):470-487. PMID: 38420660
ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of...
8.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Niggl E, Bouman A, Briere L, Hoogenboezem R, Wallaard I, Park J, et al.
Am J Hum Genet . 2023 Aug; 110(8):1414-1435. PMID: 37541189
Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously abundant protein involved in mRNA processing. Genetic variants in other members of the HNRNP family have been associated with neurodevelopmental disorders....
9.
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Lee S, Ochoa E, Badura-Stronka M, Donnelly D, Lederer D, Lynch S, et al.
Eur J Hum Genet . 2023 Jul; 31(9):1040-1047. PMID: 37407733
HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of HNRNPU have been implicated in various human...
10.
Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong M, Phadke R, et al.
Neuromuscul Disord . 2022 Dec; 33(1):50-57. PMID: 36522252
Individuals with biallelic TBCK pathogenic variants present in infancy with distinctive facial features, profound hypotonia, severe intellectual impairment and epilepsy. Although rare, it may mimic other neurogenetic disorders leading to...