Publications:

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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: LDLR: 1478_1479delCT; Ser493Cysfs*42

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

View BVdb publication page

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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports

Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS

Publication Date: 2021-01

Variant appearance in text: LDLR: 1478_1479delCT; Ser493Cysfs*42

PubMed Link: 33269076

Variant Present in the following documents:

• Main text
• Supplementary_Data.pdf
• br-14-01-01391.pdf

View BVdb publication page

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Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

Jama Network Open

Costain, Gregory G; Walker, Susan S; Marano, Maria M; Veenma, Danielle D; Snell, Meaghan M; Curtis, Meredith M; Luca, Stephanie S; Buera, Jason J; Arje, Danielle D; Reuter, Miriam S MS; Thiruvahindrapuram, Bhooma B; Trost, Brett B; Sung, Wilson W L WWL; Yuen, Ryan K C RKC; Chitayat, David D; Mendoza-Londono, Roberto R; Stavropoulos, D James DJ; Scherer, Stephen W SW; Marshall, Christian R CR; Cohn, Ronald D RD; Cohen, Eyal E; Orkin, Julia J; Meyn, M Stephen MS; Hayeems, Robin Z RZ

Publication Date: 2020-09-01

Variant appearance in text: LDLR: 1476_1477del

PubMed Link: 32960281

Variant Present in the following documents:

• Main text

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: LDLR: 1478_1479delCT; Ser493Cysfs*42

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Buonaiuto, Alessio A; Calcaterra, Ilenia I; Palma, Daniela D; Maione, Giovanna G; Iannuzzo, Gabriella G; Di Minno, Matteo Nicola Dario MND; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2020-01-14

Variant appearance in text: LDLR: 1478_1479delCT; Ser493Cysfs*42

PubMed Link: 31947532

Variant Present in the following documents:

• Main text
• jcm-09-00219.pdf

View BVdb publication page

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications

Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH

Publication Date: 2019-10-25

Variant appearance in text: LDLR: 1478_1479del

PubMed Link: 31653860

Variant Present in the following documents:

• 41467_2019_12869_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 1478_1479delCT; Ser493Cysfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Journal Of Lipid Research

Romano, Maria M; Di Taranto, Maria Donata MD; Mirabelli, Peppino P; D'Agostino, Maria Nicoletta MN; Iannuzzi, Arcangelo A; Marotta, Gennaro G; Gentile, Marco M; Raia, Maddalena M; Di Noto, Rosa R; Del Vecchio, Luigi L; Rubba, Paolo P; Fortunato, Giuliana G

Publication Date: 2011-11

Variant appearance in text: LDLR: 1478_1479delCT; Ser493CysfsX42

PubMed Link: 21865347

Variant Present in the following documents:

• Main text

View BVdb publication page

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