Publications:

---

Pharmacogenetics-based population pharmacokinetic analysis and dose optimization of valproic acid in Chinese southern children with epilepsy: Effect of ABCB1 gene polymorphism.

Frontiers In Pharmacology

Shen, Xianhuan X; Chen, Xinyi X; Lu, Jieluan J; Chen, Qing Q; Li, Wenzhou W; Zhu, Jiahao J; He, Yaodong Y; Guo, Huijuan H; Xu, Chenshu C; Fan, Xiaomei X

Publication Date: 2022

Variant appearance in text: rs10167228

PubMed Link: 36506519

Variant Present in the following documents:

• Main text
• fphar-13-1037239.pdf

View BVdb publication page

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs10167228

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

Annals Of Medicine

Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF

Publication Date: 2022-12

Variant appearance in text: rs10167228

PubMed Link: 35801810

Variant Present in the following documents:

• Main text
• IANN_54_2096257.pdf

View BVdb publication page

---

Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research

Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H

Publication Date: 2022

Variant appearance in text: rs10167228

PubMed Link: 35136380

Variant Present in the following documents:

• Main text
• GR2022-1168703.pdf

View BVdb publication page

---

Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research

Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H

Publication Date: 2022

Variant appearance in text: rs10167228

PubMed Link: 35136380

Variant Present in the following documents:

• Main text
• GR2022-1168703.pdf

View BVdb publication page

---

A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy.

International Journal Of Molecular Sciences

Naimo, Giuseppina Daniela GD; Guarnaccia, Maria M; Sprovieri, Teresa T; Ungaro, Carmine C; Conforti, Francesca Luisa FL; Andò, Sebastiano S; Cavallaro, Sebastiano S

Publication Date: 2019-07-30

Variant appearance in text: rs10167228

PubMed Link: 31366017

Variant Present in the following documents:

• Main text
• ijms-20-03717-s001.pdf
• ijms-20-03717.pdf

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs10167228

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs10167228

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---