Publications:

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Microvascular and macrovascular complications of type 2 diabetes mellitus: Exome wide association analyses.

Frontiers In Endocrinology

Mansour, Afnan A; Mousa, Mira M; Abdelmannan, Dima D; Tay, Guan G; Hassoun, Ahmed A; Alsafar, Habiba H

Publication Date: 2023

Variant appearance in text: rs146350220

PubMed Link: 37033211

Variant Present in the following documents:

• Main text
• fendo-14-1143067.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: SEPTIN14: R45T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Biomedical Reports

Aitkulova, Akbota A; Mukhtarova, Kymbat K; Zholdybayeva, Elena E; Medetov, Yerkin Y; Dzhamantayeva, Botagoz B; Kassymbek, Kuat K; Utupov, Talgat T; Akhmetollayev, Ilyas I; Akshulakov, Serik S; Kulmambetova, Gulmira G; Ramankulov, Yerlan Y

Publication Date: 2022-08

Variant appearance in text: SEPTIN14: R45T; rs146350220

PubMed Link: 35815187

Variant Present in the following documents:

• Supplementary_Data.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: SEPT14: R45T; rs146350220

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: SEPT14: 134G>C; rs146350220

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: SEPT14: R45T; rs146350220

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Human Molecular Genetics

Pagnamenta, Alistair T AT; Howard, Malcolm F MF; Wisniewski, Eva E; Popitsch, Niko N; Knight, Samantha J L SJ; Keays, David A DA; Quaghebeur, Gerardine G; Cox, Helen H; Cox, Phillip P; Balla, Tamas T; Taylor, Jenny C JC; Kini, Usha U

Publication Date: 2015-07-01

Variant appearance in text: SEPT14: 134G>C

PubMed Link: 25855803

Variant Present in the following documents:

• supp_ddv117_ddv117supp_table2.xls, sheet 1

View BVdb publication page

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