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: rs2295583

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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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs2295583

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: GNAS: 258-138A>T; rs2295583

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics

Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P

Publication Date: 2018

Variant appearance in text: rs2295583

PubMed Link: 29375670

Variant Present in the following documents:

• 13039_2018_357_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2295583

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2295583

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1

View BVdb publication page

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Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

The Journal Of Clinical Endocrinology And Metabolism

Richard, Nicolas N; Molin, Arnaud A; Coudray, Nadia N; Rault-Guillaume, Pauline P; Jüppner, Harald H; Kottler, Marie-Laure ML

Publication Date: 2013-09

Variant appearance in text: rs2295583

PubMed Link: 23884777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics

Mengel-From, Jonas J; Wong, Terence H TH; Morling, Niels N; Rees, Jonathan L JL; Jackson, Ian J IJ

Publication Date: 2009-12-30

Variant appearance in text: rs2295583

PubMed Link: 20042077

Variant Present in the following documents:

• Main text
• 1471-2156-10-88.pdf

View BVdb publication page

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