Publications:

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: LIPA: 599T>C; Leu200Pro; rs121965086

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children.

Acg Case Reports Journal

Saad, Michelle M; Syed, Sabeen S

Publication Date: 2021-01

Variant appearance in text: LAL: 599T>C

PubMed Link: 33457437

Variant Present in the following documents:

• Main text

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Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics

Vrablik, Michal M; Tichý, Lukas L; Freiberger, Tomas T; Blaha, Vladimir V; Satny, Martin M; Hubacek, Jaroslav A JA

Publication Date: 2020

Variant appearance in text: LIPA: Leu200Pro

PubMed Link: 33133164

Variant Present in the following documents:

• Main text
• fgene-11-574474.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LIPA: 599T>C; Leu200Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LIPA: L200P; rs121965086

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CESD: L200P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LIPA: L200P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

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Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Hepatology (Baltimore, Md.)

Scott, Stuart A SA; Liu, Benny B; Nazarenko, Irina I; Martis, Suparna S; Kozlitina, Julia J; Yang, Yao Y; Ramirez, Charina C; Kasai, Yumi Y; Hyatt, Tommy T; Peter, Inga I; Desnick, Robert J RJ

Publication Date: 2013-09

Variant appearance in text: CESD: 599T>C

PubMed Link: 23424026

Variant Present in the following documents:

• Main text

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