Publications:

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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

European Journal Of Human Genetics : Ejhg

Pennings, Maartje M; Meijer, Rowdy P P RPP; Gerrits, Monique M; Janssen, Jannie J; Pfundt, Rolph R; de Leeuw, Nicole N; Gilissen, Christian C; Gardeitchik, Thatjana T; Schouten, Meyke M; Voermans, Nicol N; van de Warrenburg, Bart B; Kamsteeg, Erik-Jan EJ

Publication Date: 2023-02-13

Variant appearance in text: SPG7: 1045G>A

PubMed Link: 36781956

Variant Present in the following documents:

• 41431_2023_1312_MOESM4_ESM.pdf

View BVdb publication page

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The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.

Frontiers In Neurology

Huang, Yu Tong YT; Giacomini, Paul S PS; Massie, Rami R; Venkateswaran, Sunita S; Trudelle, Anne-Marie AM; Fadda, Giulia G; Sharifian-Dorche, Maryam M; Boudjani, Hayet H; Poliquin-Lasnier, Laurence L; Airas, Laura L; Saveriano, Alexander W AW; Ziller, Matthias Georg MG; Miller, Elka E; Martinez-Rios, Claudia C; Wilson, Nagwa N; Davila, Jorge J; Rush, Carolina C; Longbrake, Erin E EE; Longoni, Giulia G; Macaron, Gabrielle G; Bernard, Geneviève G; Tampieri, Donatella D; Antel, Jack J; Brais, Bernard B; La Piana, Roberta R

Publication Date: 2022

Variant appearance in text: SPG7: Gly349Ser

PubMed Link: 35959404

Variant Present in the following documents:

• Main text
• fneur-13-928493.pdf

View BVdb publication page

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Npj Genomic Medicine

Boonsawat, Paranchai P; Horn, Anselm H C AHC; Steindl, Katharina K; Baumer, Alessandra A; Joset, Pascal P; Kraemer, Dennis D; Bahr, Angela A; Ivanovski, Ivan I; Cabello, Elena M EM; Papik, Michael M; Zweier, Markus M; Oneda, Beatrice B; Sirleto, Pietro P; Burkhardt, Tilo T; Sticht, Heinrich H; Rauch, Anita A

Publication Date: 2022-07-29

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 35906228

Variant Present in the following documents:

• 41525_2022_316_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: SPG7: G349S

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: SPG7: G349S; rs141659620

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine

van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J

Publication Date: 2021-09-16

Variant appearance in text: SPG7: G349S

PubMed Link: 34531397

Variant Present in the following documents:

• Main text
• 41525_2021_238_MOESM1_ESM.pdf
• 41525_2021_Article_238.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SPG7: G349S

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.

Journal Of Neurology

Osmanovic, Alma A; Widjaja, Maylin M; Förster, Alisa A; Weder, Julia J; Wattjes, Mike P MP; Lange, Inken I; Sarikidi, Anastasia A; Auber, Bernd B; Raab, Peter P; Christians, Anne A; Preller, Matthias M; Petri, Susanne S; Weber, Ruthild G RG

Publication Date: 2020-09

Variant appearance in text: SPG7: G349S; rs141659620

PubMed Link: 32447552

Variant Present in the following documents:

• Main text
• 415_2020_Article_9861.pdf
• 415_2020_9861_MOESM1_ESM.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: SPG7: 1045G>A; rs141659620

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: SPG7: 1045G>A; Gly349Ser; rs141659620

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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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: SPG7: 1045G>A; rs141659620

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SPG7: G349S; rs141659620

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.

Neurology. Genetics

Hewamadduma, Channa A CA; Hoggard, Nigel N; O'Malley, Ronan R; Robinson, Megan K MK; Beauchamp, Nick J NJ; Segamogaite, Ruta R; Martindale, Jo J; Rodgers, Tobias T; Rao, Ganesh G; Sarrigiannis, Ptolemaios P; Shanmugarajah, Priya P; Zis, Panagiotis P; Sharrack, Basil B; McDermott, Christopher J CJ; Shaw, Pamela J PJ; Hadjivassiliou, Marios M

Publication Date: 2018-12

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 30533525

Variant Present in the following documents:

• Main text
• NG2018007690.pdf

View BVdb publication page

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Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Annals Of Neurology

Jia, Xiaoming X; Madireddy, Lohith L; Caillier, Stacy S; Santaniello, Adam A; Esposito, Federica F; Comi, Giancarlo G; Stuve, Olaf O; Zhou, Yuan Y; Taylor, Bruce B; Kilpatrick, Trevor T; Martinelli-Boneschi, Filippo F; Cree, Bruce A C BAC; Oksenberg, Jorge R JR; Hauser, Stephen L SL; Baranzini, Sergio E SE

Publication Date: 2018-07

Variant appearance in text: SPG7: 1045G>A; G349S

PubMed Link: 29908077

Variant Present in the following documents:

• ANA-84-51-s004.pdf

View BVdb publication page

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

American Journal Of Human Genetics

Punj, Sumit S; Akkari, Yassmine Y; Huang, Jennifer J; Yang, Fei F; Creason, Allison A; Pak, Christine C; Potter, Amiee A; Dorschner, Michael O MO; Nickerson, Deborah A DA; Robertson, Peggy D PD; Jarvik, Gail P GP; Amendola, Laura M LM; Schleit, Jennifer J; Simpson, Dana Kostiner DK; Rope, Alan F AF; Reiss, Jacob J; Kauffman, Tia T; Gilmore, Marian J MJ; Himes, Patricia P; Wilfond, Benjamin B; Goddard, Katrina A B KAB; Richards, C Sue CS

Publication Date: 2018-06-07

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 29754767

Variant Present in the following documents:

• Main text

View BVdb publication page

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iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Cell Death & Disease

Melguizo-Sanchis, Dario D; Xu, Yaobo Y; Taheem, Dheraj D; Yu, Min M; Tilgner, Katarzyna K; Barta, Tomas T; Gassner, Katja K; Anyfantis, George G; Wan, Tengfei T; Elango, Ramu R; Alharthi, Sameer S; El-Harouni, Ashraf A AA; Przyborski, Stefan S; Adam, Soheir S; Saretzki, Gabriele G; Samarasinghe, Sujith S; Armstrong, Lyle L; Lako, Majlinda M

Publication Date: 2018-01-26

Variant appearance in text: SPG7: G349S; rs141659620

PubMed Link: 29374141

Variant Present in the following documents:

• 41419_2017_141_MOESM8_ESM.xlsx, sheet 2

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: SPG7: 1045G>A; Gly349Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Frontiers In Molecular Neuroscience

Krüger, Stefanie S; Battke, Florian F; Sprecher, Andrea A; Munz, Marita M; Synofzik, Matthis M; Schöls, Ludger L; Gasser, Thomas T; Grehl, Torsten T; Prudlo, Johannes J; Biskup, Saskia S

Publication Date: 2016

Variant appearance in text: SPG7: 1045G>A; G349S; rs141659620

PubMed Link: 27790088

Variant Present in the following documents:

• Main text
• fnmol-09-00092.pdf

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: SPG7: G349S

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Brain : A Journal Of Neurology

Kullar, Peter J PJ; Quail, Jenna J; Lindsey, Phillip P; Wilson, Janet A JA; Horvath, Rita R; Yu-Wai-Man, Patrick P; Gorman, Grainne S GS; Taylor, Robert W RW; Ng, Yi Y; McFarland, Robert R; Moore, Brian C J BC; Chinnery, Patrick F PF

Publication Date: 2016-06

Variant appearance in text: SPG7: Gly349Ser

PubMed Link: 27016405

Variant Present in the following documents:

• Main text
• aww051.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SPG7: G349S; rs141659620

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

European Journal Of Human Genetics : Ejhg

Choquet, Karine K; Tétreault, Martine M; Yang, Sharon S; La Piana, Roberta R; Dicaire, Marie-Josée MJ; Vanstone, Megan R MR; Mathieu, Jean J; Bouchard, Jean-Pierre JP; Rioux, Marie-France MF; Rouleau, Guy A GA; , ; Boycott, Kym M KM; Majewski, Jacek J; Brais, Bernard B

Publication Date: 2016-07

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 26626314

Variant Present in the following documents:

• Main text

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: SPG7: G349S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs141659620

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Jama Neurology

Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF

Publication Date: 2014-10

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 25133958

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: SPG7: G349S

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Brain : A Journal Of Neurology

Klebe, Stephan S; Depienne, Christel C; Gerber, Sylvie S; Challe, Georges G; Anheim, Mathieu M; Charles, Perrine P; Fedirko, Estelle E; Lejeune, Elodie E; Cottineau, Julien J; Brusco, Alfredo A; Dollfus, Hélène H; Chinnery, Patrick F PF; Mancini, Cecilia C; Ferrer, Xavier X; Sole, Guilhem G; Destée, Alain A; Mayer, Jean-Michel JM; Fontaine, Bertrand B; de Seze, Jérôme J; Clanet, Michel M; Ollagnon, Elisabeth E; Busson, Philippe P; Cazeneuve, Cécile C; Stevanin, Giovanni G; Kaplan, Josseline J; Rozet, Jean-Michel JM; Brice, Alexis A; Durr, Alexandra A

Publication Date: 2012-10

Variant appearance in text: SPG7: 1045G>A; Gly349Ser

PubMed Link: 23065789

Variant Present in the following documents:

• Main text

View BVdb publication page

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