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Michael F Buckley

Explore the profile of Michael F Buckley including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 50
Citations 1258
Followers 0
Related Specialties
Genetics
General Medicine
Molecular Biology
Top 10 Co-Authors
Tony Roscioli
Ying Zhu
George Elakis
Edwin P Kirk
Carey-Anne Evans
David Mowat
Peter J Taylor
Simon T Cliffe
Kerith-Rae Dias
Christian Gilissen
Published In
Genet Med
Am J Med Genet A
Hum Mutat
Am J Hum Genet
Eur J Hum Genet
Affiliations
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Recent Articles
1.
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
de Hayr L, Blok L, Dias K, Long J, Begemann A, Moir R, et al.
Genet Med . 2024 Dec; 27(1):101253. PMID: 39636576
Purpose: This study details a novel syndromic form of autosomal recessive intellectual disability resulting from recessive variants in GTF3C3, encoding a key component of the DNA-binding transcription factor IIIC, which...
2.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Dias K, Shrestha R, Schofield D, Evans C, OHeir E, Zhu Y, et al.
Genet Med . 2024 Jan; 26(5):101076. PMID: 38258669
Purpose: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively. Methods: ES, GS, epigenetic signatures, and long-read sequencing...
3.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
Forwood C, Ashton K, Zhu Y, Zhang F, Dias K, Standen K, et al.
Am J Med Genet C Semin Med Genet . 2023 Sep; 193(3):e32056. PMID: 37654076
Heterozygous ARID1B variants result in Coffin-Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to ARID1B...
4.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, et al.
Am J Hum Genet . 2023 May; 110(6):963-978. PMID: 37196654
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the...
5.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
Kuroda Y, Iwata-Otsubo A, Dias K, Temple S, Nagao K, de Hayr L, et al.
Genet Med . 2023 Apr; 25(7):100861. PMID: 37087635
Purpose: This study aimed to establish variants in CBX1, encoding heterochromatin protein 1β (HP1β), as a cause of a novel syndromic neurodevelopmental disorder. Methods: Patients with CBX1 variants were identified,...
6.
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
Thomas-Wilson A, Schacht J, Chitayat D, Blaser S, Reynoso Santos F, Glaser K, et al.
Am J Med Genet A . 2023 Apr; 191(7):1935-1941. PMID: 37031378
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this...
7.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
Strong A, Rao S, von Hardenberg S, Li D, Cox L, Lee P, et al.
Am J Med Genet A . 2023 Feb; 191(5):1227-1239. PMID: 36751037
AMOTL1 encodes angiomotin-like protein 1, an actin-binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of...
8.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor A, Sullivan J, et al.
Am J Hum Genet . 2023 Feb; 110(3):499-515. PMID: 36724785
Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the conserved Triple T (TTT) complex that modulates activity of...
9.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Ewans L, Minoche A, Schofield D, Shrestha R, Puttick C, Zhu Y, et al.
Eur J Hum Genet . 2022 Aug; 30(10):1121-1131. PMID: 35970915
Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole exome sequencing (WES); however, additional diagnostic yields and costs remain undefined. We investigated differences between diagnostic and cost outcomes of...
10.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Dias K, Carlston C, Blok L, de Hayr L, Nawaz U, Evans C, et al.
Genet Med . 2022 Aug; 24(9):1952-1966. PMID: 35916866
Purpose: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor...