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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2020 | 1 |
2022 | 2 |
2024 | 0 |
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5 results
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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Genome Med. 2022 Sep 30;14(1):113. doi: 10.1186/s13073-022-01113-y.
Genome Med. 2022.
PMID: 36180924
Free PMC article.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF.
Lima AR, et al.
Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10.
Hum Mutat. 2022.
PMID: 35344616
Free PMC article.
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Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski JR, McCann-Crosby B, Potocki L.
Franciskovich R, et al.
Am J Med Genet A. 2020 Sep;182(9):2077-2084. doi: 10.1002/ajmg.a.61741. Epub 2020 Jul 13.
Am J Med Genet A. 2020.
PMID: 32656927
Free PMC article.
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.
Vetrini F, et al.
Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0.
Genome Med. 2019.
PMID: 30819258
Free PMC article.
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Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.
Hartono SP, Vargas-Hernández A, Ponsford MJ, Chinn IK, Jolles S, Wilson K, Forbes LR.
Hartono SP, et al.
J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13.
J Clin Immunol. 2018.
PMID: 30317461
No abstract available.
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