Publications:

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.

Human Genome Variation

Liu, Yanqiu Y; Mao, Liangwei L; Huang, Hui H; Li, Wei W; Man, Jianfen J; Zhang, Wenqian W; Wang, Lina L; Li, Long L; Sun, Yan Y; Zhai, Teng T; Guo, Xueqin X; Du, Lique L; Huang, Jin J; Li, Hao H; Wan, Yang Y; Wei, Xiaoming X

Publication Date: 2023-05-22

Variant appearance in text: APOE: 502C>T; R168C; rs867594573

PubMed Link: 37217505

Variant Present in the following documents:

• 41439_2023_238_MOESM1_ESM.xlsx, sheet 1

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Advances in the Diagnosis and Treatment of Krabbe Disease.

International Journal Of Neonatal Screening

Wenger, David A DA; Luzi, Paola P; Rafi, Mohammad A MA

Publication Date: 2021-08-18

Variant appearance in text: APOE: 502C>T; R168C

PubMed Link: 34449528

Variant Present in the following documents:

• Main text

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Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

Diagnostic Pathology

da Silveira-Neto, Joaquim Nelito JN; de Oliveira Ahn, Guilherme Jinson GJ; de Menezes Neves, Precil Diego Miranda PDM; Baptista, Vinicius Augusto Ferreira VAF; de Almeida Araújo, Stanley S; Wanderley, David Campos DC; Watanabe, Andréia A; Watanabe, Elieser Hitoshi EH; Murai, Neide Missae NM; Bertollo, Eny Maria Goloni EMG; Vieira-Neto, Osvaldo Merege OM; Dantas, Márcio M; de Antônio, Sergio Ricardo SR; Costa, Roberto Silva RS; Baptista, Maria Alice Sperto Ferreira MASF; Moysés-Neto, Miguel M; Onuchic, Luiz Fernando LF

Publication Date: 2021-07-26

Variant appearance in text: APOE: 502C>T; R168C

PubMed Link: 34311745

Variant Present in the following documents:

• Main text
• 13000_2021_Article_1119.pdf

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Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Plos One

Cruchaga, Carlos C; Haller, Gabe G; Chakraverty, Sumitra S; Mayo, Kevin K; Vallania, Francesco L M FL; Mitra, Robi D RD; Faber, Kelley K; Williamson, Jennifer J; Bird, Tom T; Diaz-Arrastia, Ramon R; Foroud, Tatiana M TM; Boeve, Bradley F BF; Graff-Radford, Neill R NR; St Jean, Pamela P; Lawson, Michael M; Ehm, Margaret G MG; Mayeux, Richard R; Goate, Alison M AM; ,

Publication Date: 2012

Variant appearance in text: APOE: R168C

PubMed Link: 22312439

Variant Present in the following documents:

• Main text
• pone.0031039.pdf

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