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Year Number of Results
1982 1
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1990 1
1991 1
1992 1
1993 2
1994 1
1995 2
2001 1
2008 1
2009 1
2010 2
2011 10
2012 7
2013 2
2014 4
2015 5
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2017 10
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2019 19
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2021 20
2022 5
2023 4
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114 results

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Page 1
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Jee YH, Lui JC, Marafi D, Xia ZJ, Bhatia R, Zhou E, Herman I, Temnycky A, Whalen P, Elliot G, Leschek EW, Wijngaard R, van Beek R, de Vreugd A, de Vries MC, van Karnebeek CDM, Oud MM, Markello TC, Barnes KM, Alrohaif H, Freeze HH, Gahl WA, Malicdan MCV, Posey JE, Lupski JR, Baron J. Jee YH, et al. Among authors: markello tc. Genet Med Open. 2024 Dec 16;3:101915. doi: 10.1016/j.gimo.2024.101915. eCollection 2025. Genet Med Open. 2024. PMID: 40129681 Free PMC article.
ATP1A3 Mutation in Adult Rapid-Onset Ataxia.
Sweadner KJ, Toro C, Whitlow CT, Snively BM, Cook JF, Ozelius LJ, Markello TC, Brashear A. Sweadner KJ, et al. Among authors: markello tc. PLoS One. 2016 Mar 18;11(3):e0151429. doi: 10.1371/journal.pone.0151429. eCollection 2016. PLoS One. 2016. PMID: 26990090 Free PMC article.
Recent advances in the treatment of cystinosis.
Schneider JA, Clark KF, Greene AA, Reisch JS, Markello TC, Gahl WA, Thoene JG, Noonan PK, Berry KA. Schneider JA, et al. Among authors: markello tc. J Inherit Metab Dis. 1995;18(4):387-97. doi: 10.1007/BF00710051. J Inherit Metab Dis. 1995. PMID: 7494398 Free article. Review.
MED23-associated intellectual disability in a non-consanguineous family.
Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. Trehan A, et al. Among authors: markello tc. Am J Med Genet A. 2015 Jun;167(6):1374-80. doi: 10.1002/ajmg.a.37047. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25845469 Free PMC article.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network; Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. Chao HT, et al. Among authors: markello tc. Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017372 Free PMC article.
114 results