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: GBA: 475C>T; rs439898

PubMed Link: 37312046

Variant Present in the following documents:

• Main text
• 12864_2023_Article_9417.pdf
• 12864_2023_9417_MOESM1_ESM.pdf

View BVdb publication page

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The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.

Npj Parkinson'S Disease

Sun, Yi-Min YM; Zhou, Xin-Yue XY; Liang, Xiao-Niu XN; Lin, Jin-Ran JR; Xu, Yi-Dan YD; Chen, Chen C; Wei, Si-Di SD; Chen, Qi-Si QS; Liu, Feng-Tao FT; Zhao, Jue J; Tang, Yi-Lin YL; Shen, Bo B; Gan, Lin-Hua LH; Lu, Boxun B; Ding, Zheng-Tong ZT; An, Yu Y; Wu, Jian-Jun JJ; Wang, Jian J

Publication Date: 2023-05-17

Variant appearance in text: GBA: R159W

PubMed Link: 37198191

Variant Present in the following documents:

• 41531_2023_518_MOESM1_ESM.pdf

View BVdb publication page

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The Frequency of Korean Patients With Parkinson's Disease Carrying GBA Mutations in a Subgroup With Age at Onset ≤ 55 Years Old.

Journal Of Movement Disorders

Hwangbo, Jin J; Lee, Myung Jun MJ; Kim, Sang Jin SJ; Lee, Jae-Hyeok JH

Publication Date: 2023-03-07

Variant appearance in text: GBA: R159W

PubMed Link: 36872856

Variant Present in the following documents:

• Main text
• jmd-22191.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: 475C>T; Arg159Trp

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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Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report.

World Journal Of Clinical Cases

Wen, Xiao-Ling XL; Wang, Yao-Zi YZ; Zhang, Xia-Lin XL; Tu, Jia-Qiang JQ; Zhang, Zhi-Juan ZJ; Liu, Xia-Xia XX; Lu, Hai-Yan HY; Hao, Guo-Ping GP; Wang, Xiao-Huan XH; Yang, Lin-Hua LH; Zhang, Rui-Juan RJ

Publication Date: 2022-12-26

Variant appearance in text: GBA1: R159W

PubMed Link: 36683633

Variant Present in the following documents:

• WJCC-10-13426.pdf

View BVdb publication page

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Suicidal attempt with eliglustat overdose.

Jimd Reports

Nadler, Johannes J; Hermanns-Clausen, Maren M; Dilger, Karin K

Publication Date: 2023-01

Variant appearance in text: GBA1: 475C>T

PubMed Link: 36636596

Variant Present in the following documents:

• Main text
• JMD2-64-23.pdf

View BVdb publication page

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Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

International Journal Of Molecular Sciences

Gayed, Matthew M MM; Jung, Seung-Hye SH; Huggins, Erin E; Rodriguez-Rassi, Eleanor E; DeArmey, Stephanie S; Kishnani, Priya Sunil PS; Stiles, Ashlee R AR

Publication Date: 2022-11-29

Variant appearance in text: GBA: 475C>T; Arg159Trp

PubMed Link: 36499264

Variant Present in the following documents:

• Main text
• ijms-23-14938.pdf

View BVdb publication page

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A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

Clinical Case Reports

Jilani, Houweyda H; Hsoumi, Faten F; Rejeb, Imen I; Elaribi, Yasmina Y; Hizem, Syrine S; Sebai, Molka M; Rolfs, Arndt A; Benjemaa, Lamia L

Publication Date: 2022-05

Variant appearance in text: GBA: Arg159Trp

PubMed Link: 35592045

Variant Present in the following documents:

• Main text
• CCR3-10-e05846.pdf

View BVdb publication page

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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Orphanet Journal Of Rare Diseases

Phetthong, Tim T; Tim-Aroon, Thipwimol T; Khongkraparn, Arthaporn A; Noojarern, Saisuda S; Kuptanon, Chulaluck C; Wichajarn, Khunton K; Sathienkijkanchai, Achara A; Suphapeetiporn, Kanya K; Charoenkwan, Pimlak P; Tantiworawit, Adisak A; Noentong, Naruwan N; Wattanasirichaigoon, Duangrurdee D

Publication Date: 2021-12-20

Variant appearance in text: GBA: R159W

PubMed Link: 34930372

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2151.pdf

View BVdb publication page

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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.

Orphanet Journal Of Rare Diseases

Phetthong, Tim T; Tim-Aroon, Thipwimol T; Khongkraparn, Arthaporn A; Noojarern, Saisuda S; Kuptanon, Chulaluck C; Wichajarn, Khunton K; Sathienkijkanchai, Achara A; Suphapeetiporn, Kanya K; Charoenkwan, Pimlak P; Tantiworawit, Adisak A; Noentong, Naruwan N; Wattanasirichaigoon, Duangrurdee D

Publication Date: 2021-12-20

Variant appearance in text: GBA: R159W

PubMed Link: 34930372

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2151.pdf

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: Arg159Trp

PubMed Link: 34897099

Variant Present in the following documents:

• Main text
• jpd-12-jpd212714-s001.pdf
• jpd-12-jpd212714.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: 475C>T

PubMed Link: 34649574

Variant Present in the following documents:

• 13023_2021_2034_MOESM1_ESM.pdf

View BVdb publication page

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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.

International Journal Of Molecular Sciences

Zampieri, Stefania S; Cattarossi, Silvia S; Pavan, Eleonora E; Barbato, Antonio A; Fiumara, Agata A; Peruzzo, Paolo P; Scarpa, Maurizio M; Ciana, Giovanni G; Dardis, Andrea A

Publication Date: 2021-05-24

Variant appearance in text: GBA: 475C>T

PubMed Link: 34073924

Variant Present in the following documents:

• Main text
• ijms-22-05538.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: R159W

PubMed Link: 33176831

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1597.pdf

View BVdb publication page

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Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.

Movement Disorders Clinical Practice

Ryan, Emory E; Amato, Dominick D; MacKenzie, Jennifer J JJ; Sidransky, Ellen E; Lopez, Grisel G

Publication Date: 2020-10

Variant appearance in text: GBA1: R159W

PubMed Link: 33043079

Variant Present in the following documents:

• Main text

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: R159W

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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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Molecular Genetics And Metabolism Reports

Dimitriou, Evangelia E; Moraitou, Marina M; Cozar, Mónica M; Serra-Vinardell, Jenny J; Vilageliu, Lluïsa L; Grinberg, Daniel D; Mavridou, Irene I; Michelakakis, Helen H

Publication Date: 2020-09

Variant appearance in text: GBA: 475C>T

PubMed Link: 32547927

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.

Neurobiology Of Aging

Mahungu, Amokelani C AC; Anderson, David G DG; Rossouw, Anastasia C AC; van Coller, Riaan R; Carr, Jonathan A JA; Ross, Owen A OA; Bardien, Soraya S

Publication Date: 2020-04

Variant appearance in text: GBA: 475C>T; R159W; rs439898

PubMed Link: 32035846

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GBA: 475C>T; R159C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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: Arg159Trp

PubMed Link: 31649052

Variant Present in the following documents:

• Main text

View BVdb publication page

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[Clinical features and genetic manifestations of two families with Gaucher's disease].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Li, S J SJ; Zheng, W W WW; Sun, M Y MY; Qi, J Y JY; Jiang, B B

Publication Date: 2019-09-14

Variant appearance in text: GBA: 475C>T

PubMed Link: 31648483

Variant Present in the following documents:

• cjh-40-09-774.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: Arg159Trp

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: 475C>T; R159W

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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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: GBA: R159W

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.

Parkinsonism & Related Disorders

Velez-Pardo, Carlos C; Lorenzo-Betancor, Oswaldo O; Jimenez-Del-Rio, Marlene M; Moreno, Sonia S; Lopera, Francisco F; Cornejo-Olivas, Mario M; Torres, Luis L; Inca-Martinez, Miguel M; Mazzetti, Pilar P; Cosentino, Carlos C; Yearout, Dora D; Waldherr, Sarah M SM; Zabetian, Cyrus P CP; Mata, Ignacio F IF

Publication Date: 2019-06

Variant appearance in text: rs439898

PubMed Link: 30765263

Variant Present in the following documents:

• Main text

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: 475C>T; rs439898

PubMed Link: 30764785

Variant Present in the following documents:

• Main text
• 12881_2019_Article_759.pdf

View BVdb publication page

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Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging

Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2019-04

Variant appearance in text: GBA: R159W

PubMed Link: 30528841

Variant Present in the following documents:

• Main text

View BVdb publication page

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Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Medicine

Du, Xiaoli X; Ding, Qian Q; Chen, Qi Q; Guo, Pengxiang P; Wang, Qing Q

Publication Date: 2018-11

Variant appearance in text: GBA: R159W

PubMed Link: 30461613

Variant Present in the following documents:

• Main text
• medi-97-e13161.pdf

View BVdb publication page

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Genetic and clinical characteristics of Filipino patients with Gaucher disease.

Molecular Genetics And Metabolism Reports

Chiong, Mary Anne D MAD; Racoma, Marie Julianne C MJC; Abacan, Mary Ann R MAR

Publication Date: 2018-06

Variant appearance in text: GBA1: R159W

PubMed Link: 30023299

Variant Present in the following documents:

• Main text
• main.pdf

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: 475C>T; Arg159Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.

Molecular Genetics And Metabolism Reports

Ortiz-Cabrera, N V NV; Gallego-Merlo, J J; Vélez-Monsalve, C C; de Nicolas, R R; Mas, S Fontao SF; Ayuso, C C; Trujillo-Tiebas, M J MJ

Publication Date: 2016-12

Variant appearance in text: GBA: R159W

PubMed Link: 27872820

Variant Present in the following documents:

• Main text
• main.pdf

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: R159W

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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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: 475C>T

PubMed Link: 25435509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn screening for lysosomal storage disorders in hungary.

Jimd Reports

Wittmann, Judit J; Karg, Eszter E; Turi, Sàndor S; Legnini, Elisa E; Wittmann, Gyula G; Giese, Anne-Katrin AK; Lukas, Jan J; Gölnitz, Uta U; Klingenhäger, Michael M; Bodamer, Olaf O; Mühl, Adolf A; Rolfs, Arndt A

Publication Date: 2012

Variant appearance in text: GBA: 475C>T; R159W

PubMed Link: 23430949

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Jimd Reports

Siebert, Marina M; Bock, Hugo H; Michelin-Tirelli, Kristiane K; Coelho, Janice C JC; Giugliani, Roberto R; Saraiva-Pereira, Maria Luiza ML

Publication Date: 2013

Variant appearance in text: GBA: 475C>T; Arg159Trp

PubMed Link: 23430543

Variant Present in the following documents:

• Main text

View BVdb publication page

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