Publications:

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GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: GBA1: R296Q

PubMed Link: 37312046

Variant Present in the following documents:

• 12864_2023_9417_MOESM1_ESM.pdf

View BVdb publication page

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Analysis of rare Parkinson's disease variants in millions of people.

Research Square

Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C

Publication Date: 2023-04-10

Variant appearance in text: GBA1: R296Q; rs78973108

PubMed Link: 37090536

Variant Present in the following documents:

• nihpp-rs2743857v1.pdf

View BVdb publication page

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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: GBA: 887G>A; Arg296Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Germline pathogenic variants in 786 neuroblastoma patients.

Medrxiv : The Preprint Server For Health Sciences

Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ

Publication Date: 2023-01-25

Variant appearance in text: GBA: 887G>A; R296Q; rs78973108

PubMed Link: 36747619

Variant Present in the following documents:

• media-2.xlsx, sheet 3

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GBA: 887G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.

Journal Of Parkinson'S Disease

Peterschmitt, M Judith MJ; Saiki, Hidemoto H; Hatano, Taku T; Gasser, Thomas T; Isaacson, Stuart H SH; Gaemers, Sebastiaan J M SJM; Minini, Pascal P; Saubadu, Stéphane S; Sharma, Jyoti J; Walbillic, Samantha S; Alcalay, Roy N RN; Cutter, Gary G; Hattori, Nobutaka N; Höglinger, Günter U GU; Marek, Kenneth K; Schapira, Anthony H V AHV; Scherzer, Clemens R CR; Simuni, Tanya T; Giladi, Nir N; Sardi, Sergio Pablo SP; Fischer, Tanya Z TZ; ,

Publication Date: 2022

Variant appearance in text: GBA: Arg296Gln

PubMed Link: 34897099

Variant Present in the following documents:

• jpd-12-jpd212714-s001.pdf

View BVdb publication page

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In-depth phenotyping for clinical stratification of Gaucher disease.

Orphanet Journal Of Rare Diseases

D'Amore, Simona S; Page, Kathleen K; Donald, Aimée A; Taiyari, Khadijeh K; Tom, Brian B; Deegan, Patrick P; Tan, Chong Y CY; Poole, Kenneth K; Jones, Simon A SA; Mehta, Atul A; Hughes, Derralynn D; Sharma, Reena R; Lachmann, Robin H RH; Chakrapani, Anupam A; Geberhiwot, Tarekegn T; Santra, Saikat S; Banka, Siddarth S; Cox, Timothy M TM; ,

Publication Date: 2021-10-14

Variant appearance in text: GBA1: 887G>A

PubMed Link: 34649574

Variant Present in the following documents:

• 13023_2021_2034_MOESM1_ESM.pdf

View BVdb publication page

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Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson's Disease Cohorts.

Journal Of Parkinson'S Disease

Maple-Grødem, Jodi J; Paul, Kimberly C KC; Dalen, Ingvild I; Ngo, Kathie J KJ; Wong, Darice D; Macleod, Angus D AD; Counsell, Carl E CE; Bäckström, David D; Forsgren, Lars L; Tysnes, Ole-Bjørn OB; Kusters, Cynthia D J CDJ; Fogel, Brent L BL; Bronstein, Jeff M JM; Ritz, Beate B; Alves, Guido G

Publication Date: 2021

Variant appearance in text: GBA: R296Q; rs78973108

PubMed Link: 34275908

Variant Present in the following documents:

• Main text
• jpd-11-jpd212657-s001.pdf
• jpd-11-jpd212657.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GBA: 887G>A; Arg296Gln; rs78973108

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: GBA: Arg296Gln

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.

Orphanet Journal Of Rare Diseases

Donald, Aimee A; Tan, Chong Y CY; Chakrapani, Anupam A; Hughes, Derralyn A DA; Sharma, Reena R; Cole, Duncan D; Bardins, Stanislav S; Gorges, Martin M; Jones, Simon A SA; Schneider, Erich E

Publication Date: 2020-12-17

Variant appearance in text: GBA1: Arg296Gln

PubMed Link: 33334373

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1637.pdf

View BVdb publication page

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The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.

Orphanet Journal Of Rare Diseases

Kim, Yoo-Mi YM; Choi, Jin-Ho JH; Kim, Gu-Hwan GH; Sohn, Young Bae YB; Ko, Jung Min JM; Lee, Beom Hee BH; Cheon, Chong Kun CK; Lim, Han Hyuk HH; Heo, Sun-Hee SH; Yoo, Han-Wook HW

Publication Date: 2020-11-11

Variant appearance in text: GBA: R296Q

PubMed Link: 33176831

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1597.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GBA: R296Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic architecture of common non-Alzheimer's disease dementias.

Neurobiology Of Disease

Guerreiro, Rita R; Gibbons, Elizabeth E; Tábuas-Pereira, Miguel M; Kun-Rodrigues, Celia C; Santo, Gustavo C GC; Bras, Jose J

Publication Date: 2020-08

Variant appearance in text: GBA: Arg296Gln

PubMed Link: 32439597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.

Journal Of Medical Genetics

Kim, Yoon-Myung YM; Yum, Mi-Sun MS; Heo, Sun Hee SH; Kim, Taeho T; Jin, Hee Kyung HK; Bae, Jae-Sung JS; Seo, Go Hun GH; Oh, Arum A; Yoon, Hee Mang HM; Lim, Hyun Taek HT; Kim, Hyo-Won HW; Ko, Tae-Sung TS; Lim, Hyeong-Seok HS; Osborn, Mark J MJ; Tolar, Jakub J; Cozma, Claudia C; Rolfs, Arndt A; Zimran, Ari A; Lee, Beom Hee BH; Yoo, Han-Wook HW

Publication Date: 2020-02

Variant appearance in text: GBA: 887G>A; Arg296Gln

PubMed Link: 31649052

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106132.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: GBA: Arg296Gln

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: GBA: 887G>A; R296Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.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: GBA: 887G>A; Arg296Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Bmc Medical Genetics

Sheth, Jayesh J; Bhavsar, Riddhi R; Mistri, Mehul M; Pancholi, Dhairya D; Bavdekar, Ashish A; Dalal, Ashwin A; Ranganath, Prajnya P; Girisha, Katta M KM; Shukla, Anju A; Phadke, Shubha S; Puri, Ratna R; Panigrahi, Inusha I; Kaur, Anupriya A; Muranjan, Mamta M; Goyal, Manisha M; Ramadevi, Radha R; Shah, Raju R; Nampoothiri, Sheela S; Danda, Sumita S; Datar, Chaitanya C; Kapoor, Seema S; Bhatwadekar, Seema S; Sheth, Frenny F

Publication Date: 2019-02-14

Variant appearance in text: GBA1: 887G>A; rs78973108

PubMed Link: 30764785

Variant Present in the following documents:

• Main text
• 12881_2019_Article_759.pdf

View BVdb publication page

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Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Molecular Genetics And Metabolism

Hassan, Shahzeb S; Lopez, Grisel G; Stubblefield, Barbara K BK; Tayebi, Nahid N; Sidransky, Ellen E

Publication Date: 2018-09

Variant appearance in text: GBA1: R296Q

PubMed Link: 29980418

Variant Present in the following documents:

• Main text

View BVdb publication page

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A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

Yonsei Medical Journal

Ko, Jung Min JM; Park, Kyung Sun KS; Kang, Yeeok Y; Nam, Seong Hyeuk SH; Kim, Yoonjung Y; Park, Inho I; Chae, Hyun Wook HW; Lee, Soon Min SM; Lee, Kyung A KA; Kim, Jong Won JW

Publication Date: 2018-07

Variant appearance in text: GBA: 887G>A; Arg296Gln

PubMed Link: 29869463

Variant Present in the following documents:

• Main text
• ymj-59-652.pdf

View BVdb publication page

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Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

American Journal Of Medical Genetics. Part A

Hagege, Ermias E; Grey, Richard J RJ; Lopez, Grisel G; Roshan Lal, Tamanna T; Sidransky, Ellen E; Tayebi, Nahid N

Publication Date: 2017-12

Variant appearance in text: GBA1: 887G>A

PubMed Link: 29091352

Variant Present in the following documents:

• Main text

View BVdb publication page

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Premature Identical Twin Neonates With Sleep Apnea.

Clinical Pediatrics

Ramesh, Anirudh A; Diaz, Johanna J; Nogee, Lawrence L; Duis, Jessica J; Jang, Dae Song DS; Lawson, Cathleen C; Maegawa, Gustavo G

Publication Date: 2017-10

Variant appearance in text: GBA: 887G>A

PubMed Link: 28871878

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: GBA: 887G>A; Arg296Gln

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: rs78973108

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GBA: 887G>A; R296Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiology Of Disease

Geiger, Joshua T JT; Ding, Jinhui J; Crain, Barbara B; Pletnikova, Olga O; Letson, Christopher C; Dawson, Ted M TM; Rosenthal, Liana S LS; Pantelyat, Alexander A; Gibbs, J Raphael JR; Albert, Marilyn S MS; Hernandez, Dena G DG; Hillis, Argye E AE; Stone, David J DJ; Singleton, Andrew B AB; , ; Hardy, John A JA; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2016-10

Variant appearance in text: GBA: 887G>A; R296Q; rs78973108

PubMed Link: 27312774

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: GBA: R296Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: GBA: R296Q

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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The clinical management of Type 2 Gaucher disease.

Molecular Genetics And Metabolism

Weiss, Karin K; Gonzalez, Ashley A; Lopez, Grisel G; Pedoeim, Leah L; Groden, Catherine C; Sidransky, Ellen E

Publication Date: 2015-02

Variant appearance in text: GBA1: 887G>A

PubMed Link: 25435509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: GBA: R296Q

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.

Frontiers In Genetics

Manickam, Madhumathi M; Ravanan, Palaniyandi P; Singh, Pratibha P; Talwar, Priti P

Publication Date: 2014

Variant appearance in text: rs78973108

PubMed Link: 24904648

Variant Present in the following documents:

• Main text
• fgene-05-00148.pdf

View BVdb publication page

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Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.

The Journal Of Molecular Diagnostics : Jmd

Velayati, Arash A; Knight, Melanie A MA; Stubblefield, Barbara K BK; Sidransky, Ellen E; Tayebi, Nahid N

Publication Date: 2011-07

Variant appearance in text: GBA: Arg296Gln

PubMed Link: 21704274

Variant Present in the following documents:

• Main text

View BVdb publication page

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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Brain : A Journal Of Neurology

Neumann, Juliane J; Bras, Jose J; Deas, Emma E; O'Sullivan, Sean S SS; Parkkinen, Laura L; Lachmann, Robin H RH; Li, Abi A; Holton, Janice J; Guerreiro, Rita R; Paudel, Reema R; Segarane, Badmavady B; Singleton, Andrew A; Lees, Andrew A; Hardy, John J; Houlden, Henry H; Revesz, Tamas T; Wood, Nicholas W NW

Publication Date: 2009-07

Variant appearance in text: GBA: 887G>A; Arg296Gln

PubMed Link: 19286695

Variant Present in the following documents:

• Main text

View BVdb publication page

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