Publications:

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2021-10-25

Variant appearance in text: LDLR: 2027del; Gly676fs

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2022-02

Variant appearance in text: LDLR: 2027del; Gly676fs

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: LDLR: 2027delG; G676Afs*33

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.pdf

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Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.

Frontiers In Medicine

Awan, Zuhier Ahmed ZA; Rashidi, Omran M OM; Al-Shehri, Bandar Ali BA; Jamil, Kaiser K; Elango, Ramu R; Al-Aama, Jumana Y JY; Hegele, Robert A RA; Banaganapalli, Babajan B; Shaik, Noor A NA

Publication Date: 2021

Variant appearance in text: LDLR: 2026delG; G676Afs*33; rs875989937

PubMed Link: 34249980

Variant Present in the following documents:

• Main text
• fmed-08-694668.pdf

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology

Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ

Publication Date: 2021-08-01

Variant appearance in text: LDLR: 2027del; Gly676Alafs

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

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Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting.

Advances In Therapy

Mahzari, Moeber M; Zarif, Hawazen H

Publication Date: 2021-05

Variant appearance in text: LDLR: 2026delG; G676Afs*33

PubMed Link: 33829367

Variant Present in the following documents:

• Main text
• 12325_2021_Article_1720.pdf

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Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Global Heart

Alnouri, Fahad F; Al-Allaf, Faisal A FA; Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Alabdullah, Moheeb M; Alammari, Dalal D; Alanazi, Menwar M; Alkaf, Fahmi F; Allehyani, Abeer A; Alotaiby, Mohammad A MA; Alshehri, Abdullah A; Bouazzaoui, Abdellatif A; Karrar, Hussam H; Taher, Mohiuddin M MM

Publication Date: 2020-02-28

Variant appearance in text: LDLR: 2027delG; G676Afs*33

PubMed Link: 32489792

Variant Present in the following documents:

• Main text
• gh-15-1-759.pdf

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The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.

The Open Cardiovascular Medicine Journal

Alallaf, Faisal F; H Nazar, Fatima Amanullah FA; Alnefaie, Majed M; Almaymuni, Adel A; Rashidi, Omran Mohammed OM; Alhabib, Khalid K; Alnouri, Fahad F; Alama, Mohamed-Nabil MN; Athar, Mohammad M; Awan, Zuhier Z

Publication Date: 2017

Variant appearance in text: LDLR: 2026delG; G676Afs*33

PubMed Link: 28868092

Variant Present in the following documents:

• Main text
• TOCMJ-11-66.pdf

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