Publications:

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Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis.

Biomedicines

Bogusławska, Dżamila M DM; Kraszewski, Sebastian S; Skulski, Michał M; Potoczek, Stanisław S; Kuliczkowski, Kazimierz K; Sikorski, Aleksander F AF

Publication Date: 2023-03-05

Variant appearance in text: SPTA1: Arg2141Trp; rs41273519

PubMed Link: 36979763

Variant Present in the following documents:

• Main text
• biomedicines-11-00784.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SPTA1: 6421C>T; Arg2141Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

Disease Markers

Perfilyeva, Anastassiya A; Bespalova, Kira K; Perfilyeva, Yuliya Y; Skvortsova, Liliya L; Musralina, Lyazzat L; Zhunussova, Gulnur G; Khussainova, Elmira E; Iskakova, Ulzhan U; Bekmanov, Bakhytzhan B; Djansugurova, Leyla L

Publication Date: 2022

Variant appearance in text: SPTA1: 6421C>T; Arg2141Trp; rs41273519

PubMed Link: 36199823

Variant Present in the following documents:

• DM2022-1509994.pdf

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Destabilization of mutated human PUS3 protein causes intellectual disability.

Human Mutation

Lin, Ting-Yu TY; Smigiel, Robert R; Kuzniewska, Bozena B; Chmielewska, Joanna J JJ; Kosińska, Joanna J; Biela, Mateusz M; Biela, Anna A; Kościelniak, Anna A; Dobosz, Dominika D; Laczmanska, Izabela I; Chramiec-Głąbik, Andrzej A; Jeżowski, Jakub J; Nowak, Jakub J; Gos, Monika M; Rzonca-Niewczas, Sylwia S; Dziembowska, Magdalena M; Ploski, Rafał R; Glatt, Sebastian S

Publication Date: 2022-09-20

Variant appearance in text: SPTA1: 6421C>T; Arg2141Trp

PubMed Link: 36125428

Variant Present in the following documents:

• HUMU-43-2063-s002.xlsx, sheet 3

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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: SPTA1: 6421C>T; Arg2141Trp

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SPTA1: R2141W; rs41273519

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: SPTA1: R2141W

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing for diagnosis of congenital hemolytic anemia.

Orphanet Journal Of Rare Diseases

Mansour-Hendili, Lamisse L; Aissat, Abdelrazak A; Badaoui, Bouchra B; Sakka, Mehdi M; Gameiro, Christine C; Ortonne, Valérie V; Wagner-Ballon, Orianne O; Pissard, Serge S; Picard, Véronique V; Ghazal, Khaldoun K; Bahuau, Michel M; Guitton, Corinne C; Mansour, Ziad Z; Duplan, Mylène M; Petit, Arnaud A; Costedoat-Chalumeau, Nathalie N; Michel, Marc M; Bartolucci, Pablo P; Moutereau, Stéphane S; Funalot, Benoît B; Galactéros, Frédéric F

Publication Date: 2020-07-08

Variant appearance in text: SPTA1: R2141W; rs41273519

PubMed Link: 32641076

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1425.pdf

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: SPTA1: 6421C>T; Arg2141Trp

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM5_ESM.xlsx, sheet 2

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: SPTA1: R2141W; rs41273519

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SPTA1: 6421C>T; Arg2141Trp; rs41273519

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Oncotarget

Anastasaki, Corina C; Dahiya, Sonika S; Gutmann, David H DH

Publication Date: 2017-07-18

Variant appearance in text: SPTA1: R2141W; rs41273519

PubMed Link: 28548933

Variant Present in the following documents:

• oncotarget-08-47574-s002.xlsx, sheet 1

View BVdb publication page

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Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia

Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R

Publication Date: 2017-07

Variant appearance in text: SPTA1: R2141W

PubMed Link: 27899802

Variant Present in the following documents:

• leu2016365x3.xlsx, sheet 1

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Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Blood Cells, Molecules & Diseases

Niss, Omar O; Chonat, Satheesh S; Dagaonkar, Neha N; Almansoori, Marya O MO; Kerr, Karol K; Rogers, Zora R ZR; McGann, Patrick T PT; Quarmyne, Maa-Ohui MO; Risinger, Mary M; Zhang, Kejian K; Kalfa, Theodosia A TA

Publication Date: 2016-10

Variant appearance in text: SPTA1: 6421C>T; R2141W

PubMed Link: 27667160

Variant Present in the following documents:

• Main text

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: SPTA1: R2141W; rs41273519

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: SPTA1: R2141W; rs41273519

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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