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Category: GENE Publications

Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.

February 20, 2025
Blatt J, Hildebrandt C, Nieman E, Adams MC, McNamee L, Borst AJ. Pediatr Blood Cancer. 2025 May;72(5):e31610. doi: 10.1002/pbc.31610. Epub 2025 Feb 20. PMID: 39976419.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

February 5, 2025
Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T,...

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

January 29, 2025
Sandal P, Jong CJ, Merrill RA, Kollman GJ, Paden AH, Bend EG, Sullivan J, Spillmann RC, Shashi V, Vulto-van Silfhout AT, Pfundt R, de Vries BBA, Li PP, Bicknell LS, Strack S. Hum Mol Genet. 2025 Jan 29;34(2):193-203. doi: 10.1093/hmg/ddae166. PMCID: PMC11780858. PMID: 39565297.

Heterozygous UBR5 variants result in a neurodevelopmental disorder with autism, epilepsy and genital anomalies.

January 2, 2025
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E,...

A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.

December 1, 2024
Cope HL, Milko LV, Jalazo ER, Crissman BG, Foreman AKM, Powell BC, deJong NA, Hunter JE, Boyea BL, Forsythe AN, Wheeler AC, Zimmerman RS, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Hruska KS, Kruszka P, Kucera KS, Berg JS, Powell CM, Peay HL. Genet Med. 2024 Dec;26(12):101290. doi: 10.1016/j.gim.2024.101290. Epub 2024...

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.

September 1, 2024
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print. PMID: 39252529

Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey. 

September 1, 2024
Muenzer J, Amartino H, Burton BK, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Fertek D, Merberg D, Natarajan M, Whiteman DAH, Giugliani R. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108576. doi: 10.1016/j.ymgme.2024.108576. Epub 2024 Sep 10. PMID: 39303318.