Publications:

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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes

Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A

Publication Date: 2022-06-01

Variant appearance in text: APOB: 10708C>T; His3570Tyr

PubMed Link: 35741760

Variant Present in the following documents:

• Main text
• genes-13-00999.pdf

View BVdb publication page

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Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G

Publication Date: 2021-11

Variant appearance in text: APOB: 10708C>T; His3570Tyr; rs201736972

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

View BVdb publication page

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Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Cellular & Molecular Immunology

Lehmkuhl, Peter P; Gentz, Magdalena M; Garcia de Otezya, Andres Caballero AC; Grimbacher, Bodo B; Schulze-Koops, Hendrik H; Skapenko, Alla A

Publication Date: 2021-07

Variant appearance in text: APOB: 10708C>T; His3570Tyr; rs201736972

PubMed Link: 34059789

Variant Present in the following documents:

• 41423_2021_701_MOESM2_ESM.xlsx, sheet 2
• 41423_2021_701_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient.

Cureus

Juhász, Lilla L; Balogh, István I; Madar, László L; Kovács, Beáta B; Harangi, Mariann M

Publication Date: 2020-12-20

Variant appearance in text: APOB: 10708C>T; His3570Tyr

PubMed Link: 33489595

Variant Present in the following documents:

• Main text
• cureus-0012-00000012184.pdf

View BVdb publication page

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: APOB: 10708C>T; His3570Tyr; rs201736972

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: APOB: 10708C>T; His3570Tyr

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: APOB: H3570Y; rs201736972

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 8

View BVdb publication page

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