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: RELN: T1873I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: RELN: 5618C>T; Thr1873Ile

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Translational Psychiatry

Teles E Silva, André Luíz AL; Glaser, Talita T; Griesi-Oliveira, Karina K; Corrêa-Velloso, Juliana J; Wang, Jaqueline Yu Ting JYT; da Silva Campos, Gabriele G; Ulrich, Henning H; Balan, Andrea A; Zarrei, Mehdi M; Higginbotham, Edward J EJ; Scherer, Stephen W SW; Passos-Bueno, Maria Rita MR; Sertié, Andrea Laurato AL

Publication Date: 2022-06-06

Variant appearance in text: RELN: T1873I

PubMed Link: 35668055

Variant Present in the following documents:

• Main text
• 41398_2022_Article_1997.pdf

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: RELN: T1873I; rs41275239

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: RELN: T1873I

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 17

View BVdb publication page

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Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

European Journal Of Human Genetics : Ejhg

Wiszniewski, Wojciech W; Gawlinski, Pawel P; Gambin, Tomasz T; Bekiesinska-Figatowska, Monika M; Obersztyn, Ewa E; Antczak-Marach, Dorota D; Akdemir, Zeynep Hande Coban ZHC; Harel, Tamar T; Karaca, Ender E; Jurek, Marta M; Sobecka, Katarzyna K; Nowakowska, Beata B; Kruk, Malgorzata M; Terczynska, Iwona I; Goszczanska-Ciuchta, Alicja A; Rudzka-Dybala, Mariola M; Jamroz, Ewa E; Pyrkosz, Antoni A; Jakubiuk-Tomaszuk, Anna A; Iwanowski, Piotr P; Gieruszczak-Bialek, Dorota D; Piotrowicz, Malgorzata M; Sasiadek, Maria M; Kochanowska, Iwona I; Gurda, Barbara B; Steinborn, Barbara B; Dawidziuk, Mateusz M; Castaneda, Jennifer J; Wlasienko, Pawel P; Bezniakow, Natalia N; Jhangiani, Shalini N SN; Hoffman-Zacharska, Dorota D; Bal, Jerzy J; Szczepanik, Elzbieta E; Boerwinkle, Eric E; Gibbs, Richard A RA; Lupski, James R JR

Publication Date: 2018-08

Variant appearance in text: RELN: 5618C>T; Thr1873Ile

PubMed Link: 29706646

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RELN: 5618C>T; Thr1873Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: RELN: 5618C>T; T1873I; rs41275239

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: RELN: T1873I; rs41275239

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 1

View BVdb publication page

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