Publications:

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Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.

Nature Medicine

Lopera, Francisco F; Marino, Claudia C; Chandrahas, Anita S AS; O'Hare, Michael M; Villalba-Moreno, Nelson David ND; Aguillon, David D; Baena, Ana A; Sanchez, Justin S JS; Vila-Castelar, Clara C; Ramirez Gomez, Liliana L; Chmielewska, Natalia N; Oliveira, Gabriel M GM; Littau, Jessica Lisa JL; Hartmann, Kristin K; Park, Kyungeun K; Krasemann, Susanne S; Glatzel, Markus M; Schoemaker, Dorothee D; Gonzalez-Buendia, Lucia L; Delgado-Tirado, Santiago S; Arevalo-Alquichire, Said S; Saez-Torres, Kahira L KL; Amarnani, Dhanesh D; Kim, Leo A LA; Mazzarino, Randall C RC; Gordon, Harper H; Bocanegra, Yamile Y; Villegas, Andres A; Gai, Xiaowu X; Bootwalla, Moiz M; Ji, Jianling J; Shen, Lishuang L; Kosik, Kenneth S KS; Su, Yi Y; Chen, Yinghua Y; Schultz, Aaron A; Sperling, Reisa A RA; Johnson, Keith K; Reiman, Eric M EM; Sepulveda-Falla, Diego D; Arboleda-Velasquez, Joseph F JF; Quiroz, Yakeel T YT

Publication Date: 2023-05-15

Variant appearance in text: RELN: S630R

PubMed Link: 37188781

Variant Present in the following documents:

• 41591_2023_2318_MOESM1_ESM.pdf

View BVdb publication page

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New Strategies for the Treatment of Neuropsychiatric Disorders Based on Reelin Dysfunction.

International Journal Of Molecular Sciences

Tsuneura, Yumi Y; Nakai, Tsuyoshi T; Mizoguchi, Hiroyuki H; Yamada, Kiyofumi K

Publication Date: 2022-02-06

Variant appearance in text: RELN: S630R

PubMed Link: 35163751

Variant Present in the following documents:

• Main text
• ijms-23-01829.pdf

View BVdb publication page

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New Strategies for the Treatment of Neuropsychiatric Disorders Based on Reelin Dysfunction.

International Journal Of Molecular Sciences

Tsuneura, Yumi Y; Nakai, Tsuyoshi T; Mizoguchi, Hiroyuki H; Yamada, Kiyofumi K

Publication Date: 2022-02-06

Variant appearance in text: RELN: S630R

PubMed Link: 35163751

Variant Present in the following documents:

• Main text
• ijms-23-01829.pdf

View BVdb publication page

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Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.

Genes

Dhaliwal, Jasleen J; Qiao, Ying Y; Calli, Kristina K; Martell, Sally S; Race, Simone S; Chijiwa, Chieko C; Glodjo, Armansa A; Jones, Steven S; Rajcan-Separovic, Evica E; Scherer, Stephen W SW; Lewis, Suzanne S

Publication Date: 2021-07-08

Variant appearance in text: RELN: 1888A>C; Ser630Arg

PubMed Link: 34356069

Variant Present in the following documents:

• Main text
• genes-12-01053.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: RELN: Ser630Arg; rs115734214

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Chinese Medical Journal

Liu, Shuang S; You, Yan Y; Chen, Dan D; Qian, Jia-Ming JM; Li, Ji J

Publication Date: 2019-12-20

Variant appearance in text: RELN: S630R; rs115734214

PubMed Link: 31764169

Variant Present in the following documents:

• cm9-132-3001-s001.xlsx, sheet 1

View BVdb publication page

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In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.

Elife

Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: rs115734214

PubMed Link: 30958262

Variant Present in the following documents:

• elife-41608-supp9.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: RELN: S630R; rs115734214

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

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: 1888A>C; Ser630Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: RELN: S630R; rs115734214

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: RELN: S630R; rs115734214

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: RELN: S630R; rs115734214

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: RELN: S630R; rs115734214

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: RELN: S630R; rs115734214

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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