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Page 1
A qualitative exploration of children's lives with rare diseases.
Buckle N, Rogers Y, O'Toole D, McNulty S, Kroll T, Gibbs L, Somanadhan S. Buckle N, et al. Among authors: mcnulty s. Child Care Health Dev. 2024 Jul;50(4):e13294. doi: 10.1111/cch.13294. Child Care Health Dev. 2024. PMID: 38924454
Children and young people's experiences of living with rare diseases: An integrative review.
Somanadhan S, O'Donnell R, Bracken S, McNulty S, Sweeney A, O'Toole D, Rogers Y, Flynn C, Awan A, Baker M, O'Neill A, McAneney H, Gibbs L, Larkin P, Kroll T. Somanadhan S, et al. Among authors: mcnulty s. J Pediatr Nurs. 2023 Jan-Feb;68:e16-e26. doi: 10.1016/j.pedn.2022.10.014. Epub 2022 Nov 25. J Pediatr Nurs. 2023. PMID: 36443134 Review.
Co-mast: Harmonized seed production data for woody plants across US long-term research sites.
Nigro KM, Barton JH, Macias D, Chaudhary VB, Pearse IS, Bell DM, Chen A, Cleavitt NL, Crone EE, Greene DF, Holland EP, Johnstone JF, Koenig WD, Lyon NJ, Miller TEX, Schulze M, Snell RS, Zimmerman JK, Knops JMH, McNulty S, Parmenter RR, Winterstein MA, Zlotin RI, LaMontagne JM, Redmond MD. Nigro KM, et al. Among authors: mcnulty s. Ecology. 2024 Dec 12:e4463. doi: 10.1002/ecy.4463. Online ahead of print. Ecology. 2024. PMID: 39665135
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: mcnulty s. Am J Hum Genet. 2024 Nov 7;111(11):2411-2426. doi: 10.1016/j.ajhg.2024.08.022. Epub 2024 Sep 23. Am J Hum Genet. 2024. PMID: 39317201 Free PMC article.
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: mcnulty s. Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127. Epub 2024 Aug 30. Ann Clin Transl Neurol. 2024. PMID: 39215466 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: mcnulty s. medRxiv [Preprint]. 2024 May 29:2024.05.28.24307502. doi: 10.1101/2024.05.28.24307502. medRxiv. 2024. Update in: Am J Hum Genet. 2024 Nov 7;111(11):2411-2426. doi: 10.1016/j.ajhg.2024.08.022 PMID: 38854136 Free PMC article. Updated. Preprint.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: mcnulty s. bioRxiv [Preprint]. 2024 May 6:2024.05.03.592369. doi: 10.1101/2024.05.03.592369. bioRxiv. 2024. Update in: Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127 PMID: 38765987 Free PMC article. Updated. Preprint.
339 results