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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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2020 | 1 |
2022 | 3 |
2024 | 0 |
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Page 1
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A. 2022 Dec;188(12):3516-3524. doi: 10.1002/ajmg.a.62940. Epub 2022 Aug 7.
Am J Med Genet A. 2022.
PMID: 35934918
Free PMC article.
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT.
Deisseroth CA, et al.
Ann Neurol. 2022 Jul;92(1):138-153. doi: 10.1002/ana.26359. Epub 2022 Apr 16.
Ann Neurol. 2022.
PMID: 35340043
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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT.
Magyar CL, et al.
Am J Med Genet A. 2022 Jun;188(6):1868-1874. doi: 10.1002/ajmg.a.62704. Epub 2022 Feb 23.
Am J Med Genet A. 2022.
PMID: 35194938
Review.
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M; Undiagnosed Diseases Network; Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT.
Mao D, et al.
Am J Hum Genet. 2020 Apr 2;106(4):570-583. doi: 10.1016/j.ajhg.2020.02.016. Epub 2020 Mar 19.
Am J Hum Genet. 2020.
PMID: 32197074
Free PMC article.
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