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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438.
medRxiv. 2024.
PMID: 38645094
Free PMC article.
Preprint.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS.
Byrne AB, et al. Among authors: liebelt je.
Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1.
Nat Med. 2024.
PMID: 37429925
No abstract available.
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS.
Byrne AB, et al. Among authors: liebelt je.
Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19.
Nat Med. 2023.
PMID: 36658419
Free PMC article.
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Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS.
Byrne AB, et al. Among authors: liebelt je.
J Med Genet. 2020 Jul;57(7):454-460. doi: 10.1136/jmedgenet-2019-106700. Epub 2020 Jan 27.
J Med Genet. 2020.
PMID: 31988067
Free PMC article.
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Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
Yap P, Liebelt JE, Amor DJ, Moore L, Savarirayan R.
Yap P, et al. Among authors: liebelt je.
Am J Med Genet A. 2016 May;170A(5):1363-6. doi: 10.1002/ajmg.a.37548. Epub 2016 Jan 11.
Am J Med Genet A. 2016.
PMID: 26754439
No abstract available.
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A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.
Hattersley K, Laurie KJ, Liebelt JE, Gecz J, Durkin SR, Craig JE, Burdon KP.
Hattersley K, et al. Among authors: liebelt je.
BMC Med Genet. 2010 Nov 19;11:165. doi: 10.1186/1471-2350-11-165.
BMC Med Genet. 2010.
PMID: 21092079
Free PMC article.
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A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.
Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gecz J, Liebelt JE, Craig JE.
Burdon KP, et al. Among authors: liebelt je.
Am J Med Genet A. 2009 Feb 15;149A(4):633-9. doi: 10.1002/ajmg.a.32726.
Am J Med Genet A. 2009.
PMID: 19291767
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Nail-patella syndrome and its association with glaucoma: a review of eight families.
Mimiwati Z, Mackey DA, Craig JE, Mackinnon JR, Rait JL, Liebelt JE, Ayala-Lugo R, Vollrath D, Richards JE.
Mimiwati Z, et al. Among authors: liebelt je.
Br J Ophthalmol. 2006 Dec;90(12):1505-9. doi: 10.1136/bjo.2006.092619. Epub 2006 Jul 6.
Br J Ophthalmol. 2006.
PMID: 16825280
Free PMC article.
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