Publications:

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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: LHB: I35T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model

Journal Of Clinical Research In Pediatric Endocrinology

Kotan, Leman Damla LD

Publication Date: 2022-08-25

Variant appearance in text: rs34349826

PubMed Link: 35438269

Variant Present in the following documents:

• JCRPE-14-293.pdf

View BVdb publication page

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Effect of Genetic Variants of Gonadotropins and Their Receptors on Ovarian Stimulation Outcomes: A Delphi Consensus.

Frontiers In Endocrinology

Conforti, Alessandro A; Tüttelmann, Frank F; Alviggi, Carlo C; Behre, Hermann M HM; Fischer, Robert R; Hu, Liang L; Polyzos, Nikolaos P NP; Chuderland, Dana D; Rama Raju, Gottumukkala Achyuta GA; D'Hooghe, Thomas T; Simoni, Manuela M; Sunkara, Sesh K SK; Longobardi, Salvatore S

Publication Date: 2021

Variant appearance in text: LHB: Ile35Thr; rs34349826

PubMed Link: 35178027

Variant Present in the following documents:

• Main text
• fendo-12-797365.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: LHB: 104T>C; I35T; rs34349826

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Re-analysis of Genetic Risks for Chronic Fatigue Syndrome From 23andMe Data Finds Few Remain.

Frontiers In Pediatrics

Bedford, Felice L FL; Greshake Tzovaras, Bastian B

Publication Date: 2021

Variant appearance in text: rs34349826

PubMed Link: 33816394

Variant Present in the following documents:

• Main text
• fped-09-590040.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: LHB: I35T

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study.

Frontiers In Pediatrics

Perez, Melanie M; Jaundoo, Rajeev R; Hilton, Kelly K; Del Alamo, Ana A; Gemayel, Kristina K; Klimas, Nancy G NG; Craddock, Travis J A TJA; Nathanson, Lubov L

Publication Date: 2019

Variant appearance in text: rs34349826

PubMed Link: 31179255

Variant Present in the following documents:

• Main text
• fped-07-00206.pdf

View BVdb publication page

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Pathophysiological mechanisms of gonadotropins- and steroid hormones-related genes in etiology of polycystic ovary syndrome.

Iranian Journal Of Basic Medical Sciences

Shaaban, Zahra Z; Khoradmehr, Arezoo A; Jafarzadeh Shirazi, Mohammad Reza MR; Tamadon, Amin A

Publication Date: 2019-01

Variant appearance in text: rs34349826

PubMed Link: 30944702

Variant Present in the following documents:

• Main text
• IJBMS-22-003.pdf

View BVdb publication page

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Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques.

Plos One

Branavan, Umayal U; Muneeswaran, Kajan K; Wijesundera, Sulochana S; Jayakody, Surangi S; Chandrasekharan, Vishvanath V; Wijeyaratne, Chandrika C

Publication Date: 2018

Variant appearance in text: rs34349826

PubMed Link: 30596735

Variant Present in the following documents:

• Main text
• pone.0209830.pdf

View BVdb publication page

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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: rs34349826

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: LHB: 104T>C; I35T; rs34349826

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism.

Journal Of Assisted Reproduction And Genetics

Yang, Xiaoyu X; Ochin, H H; Shu, Li L; Liu, Jinyong J; Shen, Jiandong J; Liu, Jiayin J; Lin, Changsong C; Cui, Yugui Y

Publication Date: 2018-05

Variant appearance in text: LHB: Ile35Thr

PubMed Link: 29476300

Variant Present in the following documents:

• Main text

View BVdb publication page

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MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Scientific Reports

Rinner, Beate B; Gandolfi, Greta G; Meditz, Katharina K; Frisch, Marie-Therese MT; Wagner, Karin K; Ciarrocchi, Alessia A; Torricelli, Federica F; Koivuniemi, Raili R; Niklander, Johanna J; Liegl-Atzwanger, Bernadette B; Lohberger, Birgit B; Heitzer, Ellen E; Ghaffari-Tabrizi-Wizsy, Nassim N; Zweytick, Dagmar D; Zalaudek, Iris I

Publication Date: 2017-05-18

Variant appearance in text: LHB: 104T>C; Ile35Thr

PubMed Link: 28522871

Variant Present in the following documents:

• 41598_2017_2197_MOESM1_ESM.pdf

View BVdb publication page

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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Oncotarget

Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP

Publication Date: 2016-11-22

Variant appearance in text: LHB: I35T

PubMed Link: 27791198

Variant Present in the following documents:

• oncotarget-07-77163-s003.xlsx, sheet 21
• oncotarget-07-77163-s003.xlsx, sheet 20
• oncotarget-07-77163-s002.xlsx, sheet 20
• oncotarget-07-77163-s002.xlsx, sheet 21

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LHB: I35T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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'Carriers of variant luteinizing hormone (V-LH) among 1593 Baltic men have significantly higher serum LH'.

Andrology

Punab, A M AM; Grigorova, M M; Punab, M M; Adler, M M; Kuura, T T; Poolamets, O O; Vihljajev, V V; Žilaitienė, B B; Erenpreiss, J J; Matulevičius, V V; Laan, M M

Publication Date: 2015-05

Variant appearance in text: rs34349826

PubMed Link: 25820123

Variant Present in the following documents:

• Main text
• ANDR-3-512.pdf

View BVdb publication page

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj

O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ

Publication Date: 2013

Variant appearance in text: LHB: 104T>C; Ile35Thr; rs34349826

PubMed Link: 24109560

Variant Present in the following documents:

• peerj-01-177-s010.xlsx, sheet 1

View BVdb publication page

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Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

Human Reproduction Update

Simoni, M M; Tempfer, C B CB; Destenaves, B B; Fauser, B C J M BC

Publication Date: 2008

Variant appearance in text: LHB: I35T

PubMed Link: 18603647

Variant Present in the following documents:

• Main text
• dmn024.pdf

View BVdb publication page

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