Olinger E, Wilson I, Orr S, Barroso-Gil M, Neatu R, Atan D
Genet Med Open. 2024; 2:101834.
PMID: 39669628
PMC: 11613694.
DOI: 10.1016/j.gimo.2024.101834.
Clowes V, Taylor J, Pagnamenta A
J Med Genet. 2024; 62(2):54-56.
PMID: 39663108
PMC: 11877027.
DOI: 10.1136/jmg-2024-110422.
Hartill V, Kabir M, Best S, Shaikh Qureshi W, Baross S, Lord J
Eur J Hum Genet. 2024; .
PMID: 39587356
DOI: 10.1038/s41431-024-01744-2.
de Bruijn S, Panneman D, Weisschuh N, Cadena E, Boonen E, Holtes L
Front Genet. 2024; 15:1469686.
PMID: 39507620
PMC: 11537883.
DOI: 10.3389/fgene.2024.1469686.
Josephs K, Seaby E, May P, Theotokis P, Yu J, Andreou A
Genome Med. 2024; 16(1):125.
PMID: 39472908
PMC: 11520845.
DOI: 10.1186/s13073-024-01390-9.
A proteogenomic atlas of the human neural retina.
Riepe T, Stemerdink M, Salz R, Duenas Rey A, de Bruijn S, Boonen E
Front Genet. 2024; 15:1451024.
PMID: 39371417
PMC: 11450717.
DOI: 10.3389/fgene.2024.1451024.
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green D, Michaud V, Lasseaux E, Plaisant C, Fitzgerald T, Birney E
Nat Commun. 2024; 15(1):8436.
PMID: 39349469
PMC: 11443028.
DOI: 10.1038/s41467-024-52763-y.
Heterogeneous SSTR2 target expression and a novel :: fusion clone in a progressive metastatic lesion following Lutetium-DOTATATE molecular radiotherapy in neuroblastoma: a case report.
Park S, Fransson S, Sundquist F, Nilsson J, Gryback P, Wessman S
Front Oncol. 2024; 14:1408729.
PMID: 39324010
PMC: 11422106.
DOI: 10.3389/fonc.2024.1408729.
Integrative identification of non-coding regulatory regions driving metastatic prostate cancer.
Woo B, Moussavi-Baygi R, Karner H, Karimzadeh M, Yousefi H, Lee S
Cell Rep. 2024; 43(9):114764.
PMID: 39276353
PMC: 11466230.
DOI: 10.1016/j.celrep.2024.114764.
Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing.
Sadeghi-Alavijeh O, Chan M, Doctor G, Voinescu C, Stuckey A, Kousathanas A
J Clin Invest. 2024; 134(19).
PMID: 39190485
PMC: 11444187.
DOI: 10.1172/JCI181467.
Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts.
Zhou W, Karan K, Gu W, Klein H, Sturm G, De Jager P
PLoS Biol. 2024; 22(8):e3002723.
PMID: 39172952
PMC: 11340991.
DOI: 10.1371/journal.pbio.3002723.
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.
Furukawa S, Kato M, Ishiyama A, Kumada T, Yoshida T, Takeshita E
J Hum Genet. 2024; 69(12):629-637.
PMID: 39123069
DOI: 10.1038/s10038-024-01283-0.
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
Pei Y, Tanguy M, Giess A, Dixit A, Wilson L, Gibbons R
Genes (Basel). 2024; 15(7).
PMID: 39062704
PMC: 11276380.
DOI: 10.3390/genes15070925.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P
Am J Hum Genet. 2024; 111(6):1140-1164.
PMID: 38776926
PMC: 11179413.
DOI: 10.1016/j.ajhg.2024.04.018.
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O, Malka S, Owen N, Aliyev E, Vempalli F, Ocieczek P
BMC Genomics. 2024; 25(1):484.
PMID: 38755526
PMC: 11097485.
DOI: 10.1186/s12864-024-10353-8.
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
Cesana D, Cicalese M, Calabria A, Merli P, Caruso R, Volpin M
Nat Commun. 2024; 15(1):3662.
PMID: 38688902
PMC: 11061298.
DOI: 10.1038/s41467-024-47866-5.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan S, Gradisch R, Vogel F, Coffey A, Salyakina D, Soler D
Eur J Hum Genet. 2024; 32(8):912-919.
PMID: 38565639
PMC: 11291759.
DOI: 10.1038/s41431-024-01600-3.
Comparison of structural variant callers for massive whole-genome sequence data.
Joe S, Park J, Kim J, Kim S, Park J, Yeo M
BMC Genomics. 2024; 25(1):318.
PMID: 38549092
PMC: 10976732.
DOI: 10.1186/s12864-024-10239-9.
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L
NPJ Genom Med. 2024; 9(1):21.
PMID: 38519481
PMC: 10959942.
DOI: 10.1038/s41525-024-00411-1.
Proteogenomic analysis of enriched HGSOC tumor epithelium identifies prognostic signatures and therapeutic vulnerabilities.
Bateman N, Abulez T, Soltis A, McPherson A, Choi S, Garsed D
NPJ Precis Oncol. 2024; 8(1):68.
PMID: 38480868
PMC: 10937683.
DOI: 10.1038/s41698-024-00519-8.