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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.
Am J Hum Genet. 2019.
PMID: 31495489
Free PMC article.
A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ.
Aljeaid D, et al.
Am J Med Genet A. 2019 Jun;179(6):1010-1014. doi: 10.1002/ajmg.a.61018. Epub 2019 Mar 20.
Am J Med Genet A. 2019.
PMID: 30895720
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Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM.
Grand K, et al. Among authors: aljeaid d.
Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4.
Am J Med Genet A. 2019.
PMID: 30719864
Free PMC article.
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium; Alkuraya FS, Casanova JL, Gleeson JG.
Scott EM, et al.
Nat Genet. 2016 Sep;48(9):1071-6. doi: 10.1038/ng.3592. Epub 2016 Jul 18.
Nat Genet. 2016.
PMID: 27428751
Free PMC article.
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Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.
Aljeaid D, Sanchez AI, Wakefield E, Chadwell SE, Moore N, Prada CE, Zhang W.
Aljeaid D, et al.
Am J Med Genet A. 2019 Apr;179(4):608-614. doi: 10.1002/ajmg.a.61072. Epub 2019 Feb 14.
Am J Med Genet A. 2019.
PMID: 30762279
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Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome.
Monteil DC, Shikany A, Aljeaid D, Parrott A, Tretter JT, James J, Martin LJ, Weaver KN.
Monteil DC, et al. Among authors: aljeaid d.
J Pediatr. 2020 Jun;221:188-195.e1. doi: 10.1016/j.jpeds.2020.03.005.
J Pediatr. 2020.
PMID: 32446479
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Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency.
Shaik NA, Saud Al-Saud NB, Abdulhamid Aljuhani T, Jamil K, Alnuman H, Aljeaid D, Sultana N, El-Harouni AA, Awan ZA, Elango R, Banaganapalli B.
Shaik NA, et al. Among authors: aljeaid d.
Front Mol Biosci. 2022 Nov 24;9:1051511. doi: 10.3389/fmolb.2022.1051511. eCollection 2022.
Front Mol Biosci. 2022.
PMID: 36504721
Free PMC article.
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