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Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
HGG Adv. 2022 Dec 20;4(1):100168. doi: 10.1016/j.xhgg.2022.100168. eCollection 2023 Jan 12.
HGG Adv. 2022.
PMID: 36583168
Free PMC article.
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D; University of Washington Center for Mendelian Genomics; Tsai AC, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ.
Sobering AK, et al. Among authors: yearwood kr.
HGG Adv. 2022 Mar 26;3(3):100102. doi: 10.1016/j.xhgg.2022.100102. eCollection 2022 Jul 14.
HGG Adv. 2022.
PMID: 35469323
Free PMC article.
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A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.
Verdi G, Li D, Elsea SH, Nelson B, Bhoj EJ, Hakonarson H, Yearwood KR, Upadhya S, Gluschitz S, Smith JL, Sobering AK.
Verdi G, et al. Among authors: yearwood kr.
Mol Genet Genomic Med. 2022 Apr;10(4):e1900. doi: 10.1002/mgg3.1900. Epub 2022 Feb 21.
Mol Genet Genomic Med. 2022.
PMID: 35189041
Free PMC article.
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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Sobering AK, Li D, Beighley JS, Carey JC, Donald T, Elsea SH, Figueroa KP, Gerdts J, Hamlet A, Mirzaa GM, Nelson B, Pulst SM, Smith JL, Tassone F, Toriello HV, Walker RH, Yearwood KR, Bhoj EJ.
Sobering AK, et al. Among authors: yearwood kr.
Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1030-1041. doi: 10.1002/ajmg.c.31871. Epub 2020 Dec 4.
Am J Med Genet C Semin Med Genet. 2020.
PMID: 33274544
Free PMC article.
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ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK.
Alsharhan H, et al. Among authors: yearwood kr.
J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26.
J Inherit Metab Dis. 2021.
PMID: 33734437
Free PMC article.
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Presentation and care of a family with Huntington disease in a resource-limited community.
Charles J, Lessey L, Rooney J, Prokop I, Yearwood K, Da Breo H, Rooney P, Walker RH, Sobering AK.
Charles J, et al.
J Clin Mov Disord. 2017 Apr 12;4:4. doi: 10.1186/s40734-017-0050-6. eCollection 2017.
J Clin Mov Disord. 2017.
PMID: 28413688
Free PMC article.
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