Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: ARSA: N352S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: ARSA: 1055A>G; Asn352Ser; rs2071421

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ARSA: N352S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.

Jimd Reports

Laugwitz, Lucia L; Santhanakumaran, Vidiyaah V; Spieker, Mareike M; Boehringer, Judith J; Bender, Benjamin B; Gieselmann, Volkmar V; Beck-Woedl, Stefanie S; Bruchelt, Gernot G; Harzer, Klaus K; Kraegeloh-Mann, Ingeborg I; Groeschel, Samuel S

Publication Date: 2022-07

Variant appearance in text: ARSA: 1055A>G; Asn352Ser

PubMed Link: 35822086

Variant Present in the following documents:

• Main text
• JMD2-63-292.pdf

View BVdb publication page

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Plasma arylsulfatase A levels are associated with cognitive function in Parkinson's disease.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Li, Mingjian M; Shi, Xiaoxue X; Ma, Jianjun J; Sun, Wenhua W; Wang, Zhidong Z; Li, Dongsheng D; Zheng, Jinhua J; Zhao, Zhenxiang Z; Gu, Qi Q; Chen, Siyuan S

Publication Date: 2022-08

Variant appearance in text: ARSA: N352S

PubMed Link: 35486332

Variant Present in the following documents:

• Main text
• 10072_2022_Article_6093.pdf

View BVdb publication page

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: ARSA: Asn352Ser; rs2071421

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery.

Biomedicines

Rigon, Laura L; De Filippis, Concetta C; Napoli, Barbara B; Tomanin, Rosella R; Orso, Genny G

Publication Date: 2021-03-07

Variant appearance in text: ARSA: N352S

PubMed Link: 33800050

Variant Present in the following documents:

• Main text

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: ARSA: Asn352Ser; rs2071421

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.

Molecular Genetics And Metabolism Reports

Pekgül, Faruk F; Eroğlu-Ertuğrul, Nesibe Gevher NG; Bekircan-Kurt, Can Ebru CE; Erdem-Ozdamar, Sevim S; Çetinkaya, Arda A; Tan, Ersin E; Konuşkan, Bahadır B; Karaağaoğlu, Ergun E; Topçu, Meral M; Akarsu, Nurten Ayşe NA; Oguz, Kader K KK; Anlar, Banu B; Özkara, Hatice Asuman HA

Publication Date: 2020-12

Variant appearance in text: ARSA: 1055A>G; Asn352Ser

PubMed Link: 33335837

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential.

Brain Sciences

Angelopoulou, Efthalia E; Paudel, Yam Nath YN; Villa, Chiara C; Piperi, Christina C

Publication Date: 2020-10-07

Variant appearance in text: ARSA: 1055A>G; N352S; rs2071421

PubMed Link: 33036336

Variant Present in the following documents:

• Main text
• brainsci-10-00713.pdf

View BVdb publication page

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Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.

Neurogenetics

Beerepoot, Shanice S; van Dooren, Silvy J M SJM; Salomons, Gajja S GS; Boelens, Jaap Jan JJ; Jacobs, Edwin H EH; van der Knaap, Marjo S MS; van Kuilenburg, André B P ABP; Wolf, Nicole I NI

Publication Date: 2020-10

Variant appearance in text: ARSA: 1055A>G; Asn352Ser

PubMed Link: 32632536

Variant Present in the following documents:

• Main text

View BVdb publication page

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Chaperones and Proteostasis: Role in Parkinson's Disease.

Diseases (Basel, Switzerland)

Joshi, Neha N; Raveendran, Atchaya A; Nagotu, Shirisha S

Publication Date: 2020-06-22

Variant appearance in text: ARSA: N352S

PubMed Link: 32580484

Variant Present in the following documents:

• Main text
• diseases-08-00024.pdf

View BVdb publication page

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Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.

Molecular Genetics & Genomic Medicine

Juárez-Osuna, Jesús A JA; Mendoza-Ruvalcaba, Sandra C SC; Porras-Dorantes, Angela A; Da Silva-José, Thiago D TD; García-Ortiz, José E JE

Publication Date: 2020-08

Variant appearance in text: ARSA: 1055A>G; Asn352Ser; rs2071421

PubMed Link: 32431092

Variant Present in the following documents:

• Main text

View BVdb publication page

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A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Heliyon

Puentes-Tellez, María Alejandra MA; Lerma-Barbosa, Paula Andrea PA; Garzón-Jaramillo, Rafael Guillermo RG; Suarez, Diego A DA; Espejo-Mojica, Angela J AJ; Guevara, Johana M JM; Echeverri, Olga Yaneth OY; Solano-Galarza, Daniela D; Uribe-Ardila, Alfredo A; Alméciga-Díaz, Carlos J CJ

Publication Date: 2020-03

Variant appearance in text: ARSA: N352S

PubMed Link: 32258481

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic Influence on Efficacy of Pharmacotherapy for Pediatric Attention-Deficit/Hyperactivity Disorder: Overview and Current Status of Research.

Cns Drugs

Elsayed, Nada A NA; Yamamoto, Kaila M KM; Froehlich, Tanya E TE

Publication Date: 2020-04

Variant appearance in text: rs2071421

PubMed Link: 32133580

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Journal Of Clinical Medicine

Paciotti, Silvia S; Albi, Elisabetta E; Parnetti, Lucilla L; Beccari, Tommaso T

Publication Date: 2020-02-21

Variant appearance in text: ARSA: N352S

PubMed Link: 32098196

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).

Bmc Research Notes

Hettiarachchi, D D; Dissanayake, V H W VHW

Publication Date: 2020-01-22

Variant appearance in text: ARSA: 1055A>G

PubMed Link: 31969187

Variant Present in the following documents:

• 13104_2020_Article_4908.pdf

View BVdb publication page

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Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.

Analytical Chemistry

Hong, Xinying X; Kumar, Arun Babu AB; Daiker, Jessica J; Yi, Fan F; Sadilek, Martin M; De Mattia, Fabiola F; Fumagalli, Francesca F; Calbi, Valeria V; Damiano, Roberta R; Della Bona, Maria M; la Marca, Giancarlo G; Vanderver, Adeline L AL; Waldman, Amy T AT; Adang, Laura L; Sherbini, Omar O; Woidill, Sarah S; Suhr, Teryn T; Kurtzberg, Joanne J; Beltran-Quintero, Maria L ML; Escolar, Maria M; Aiuti, Alessandro A; Finglas, Alan A; Olsen, Amber A; Gelb, Michael H MH

Publication Date: 2020-05-05

Variant appearance in text: ARSA: 1055A>G

PubMed Link: 31922725

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: ARSA: Asn352Ser

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 8
• Supplementary_Data2.xlsx, sheet 6
• Supplementary_Data2.xlsx, sheet 7

View BVdb publication page

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Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).

Bmc Research Notes

Hettiarachchi, D D; Dissanayake, V H W VHW

Publication Date: 2019-11-06

Variant appearance in text: ARSA: 1055A>G

PubMed Link: 31694723

Variant Present in the following documents:

• Main text
• 13104_2019_Article_4773.pdf

View BVdb publication page

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ARSA variants in α-synucleinopathies.

Brain : A Journal Of Neurology

Makarious, Mary B MB; Diez-Fairen, Monica M; Krohn, Lynne L; Blauwendraat, Cornelis C; Bandres-Ciga, Sara S; Ding, Jinhui J; Pihlstrøm, Lasse L; Houlden, Henry H; Scholz, Sonja W SW; Gan-Or, Ziv Z

Publication Date: 2019-12-01

Variant appearance in text: ARSA: 1055A>G; N352S; rs2071421

PubMed Link: 31670782

Variant Present in the following documents:

• Main text

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ARSA: 1055A>G; Asn352Ser; rs2071421

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.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: ARSA: N352S; rs2071421

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2071421

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort.

Frontiers In Genetics

Klein, Kathrin K; Tremmel, Roman R; Winter, Stefan S; Fehr, Sarah S; Battke, Florian F; Scheurenbrand, Tim T; Schaeffeler, Elke E; Biskup, Saskia S; Schwab, Matthias M; Zanger, Ulrich M UM

Publication Date: 2019

Variant appearance in text: rs2071421

PubMed Link: 30766545

Variant Present in the following documents:

• Main text
• fgene-10-00007.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ARSA: 1055A>G; Asn352Ser; rs2071421

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: rs2071421

PubMed Link: 30026549

Variant Present in the following documents:

• Main text
• 41598_2018_29279_MOESM1_ESM.pdf
• 41598_2018_Article_29279.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: ARSA: 1055A>G; N352S; rs2071421

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy.

Cell Death & Disease

Frati, Giacomo G; Luciani, Marco M; Meneghini, Vasco V; De Cicco, Silvia S; Ståhlman, Marcus M; Blomqvist, Maria M; Grossi, Serena S; Filocamo, Mirella M; Morena, Francesco F; Menegon, Andrea A; Martino, Sabata S; Gritti, Angela A

Publication Date: 2018-06-13

Variant appearance in text: ARSA: 1055A>G; N352S

PubMed Link: 29899471

Variant Present in the following documents:

• 41419_2018_737_MOESM1_ESM.pdf

View BVdb publication page

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Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Genes

Mustafa, Abeer E AE; Faquih, Tariq T; Baz, Batoul B; Kattan, Rana R; Al-Issa, Abdulelah A; Tahir, Asma I AI; Imtiaz, Faiqa F; Ramzan, Khushnooda K; Al-Sayed, Moeenaldeen M; Alowain, Mohammed M; Al-Hassnan, Zuhair Z; Al-Zaidan, Hamad H; Abouelhoda, Mohamed M; Al-Mubarak, Bashayer R BR; Al Tassan, Nada A NA

Publication Date: 2018-05-22

Variant appearance in text: ARSA: 1055A>G; N352S

PubMed Link: 29789446

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

Neurobiology Of Aging

Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Blumenau, Sonja S; Thielke, Mareike M; Josties, Christa C; Freyer, Dorette D; Dietrich, Annette A; Hammer, Monia M; Baier, Michael M; Dirnagl, Ulrich U; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hodges, Angela A; Hardy, John J

Publication Date: 2018-06

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 29544907

Variant Present in the following documents:

• mmc3.xlsx, sheet 4

View BVdb publication page

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Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

Dementia And Geriatric Cognitive Disorders

Blue, Elizabeth E EE; Bis, Joshua C JC; Dorschner, Michael O MO; Tsuang, Debby W DW; Barral, Sandra M SM; Beecham, Gary G; Below, Jennifer E JE; Bush, William S WS; Butkiewicz, Mariusz M; Cruchaga, Carlos C; DeStefano, Anita A; Farrer, Lindsay A LA; Goate, Alison A; Haines, Jonathan J; Jaworski, Jim J; Jun, Gyungah G; Kunkle, Brian B; Kuzma, Amanda A; Lee, Jenny J JJ; Lunetta, Kathryn L KL; Ma, Yiyi Y; Martin, Eden E; Naj, Adam A; Nato, Alejandro Q AQ; Navas, Patrick P; Nguyen, Hiep H; Reitz, Christiane C; Reyes, Dolly D; Salerno, William W; Schellenberg, Gerard D GD; Seshadri, Sudha S; Sohi, Harkirat H; Thornton, Timothy A TA; Valadares, Otto O; van Duijn, Cornelia C; Vardarajan, Badri N BN; Wang, Li-San LS; Boerwinkle, Eric E; Dupuis, Josée J; Pericak-Vance, Margaret A MA; Mayeux, Richard R; Wijsman, Ellen M EM; ,

Publication Date: 2018

Variant appearance in text: rs2071421

PubMed Link: 29486463

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder.

Scientific Reports

Pagerols, Mireia M; Richarte, Vanesa V; Sánchez-Mora, Cristina C; Rovira, Paula P; Soler Artigas, María M; Garcia-Martínez, Iris I; Calvo-Sánchez, Eva E; Corrales, Montse M; da Silva, Bruna Santos BS; Mota, Nina Roth NR; Victor, Marcelo Moraes MM; Rohde, Luis Augusto LA; Grevet, Eugenio Horacio EH; Bau, Claiton Henrique Dotto CHD; Cormand, Bru B; Casas, Miguel M; Ramos-Quiroga, Josep Antoni JA; Ribasés, Marta M

Publication Date: 2018-01-30

Variant appearance in text: rs2071421

PubMed Link: 29382897

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20194.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Nature Medicine

Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M

Publication Date: 2017-12

Variant appearance in text: ARSA: 1055A>G; Asn352Ser

PubMed Link: 29131160

Variant Present in the following documents:

• NIHMS74480-supplement-Supplementary_Dataset_4.xlsx, sheet 14
• NIHMS74480-supplement-Supplementary_Dataset_4.xlsx, sheet 4
• NIHMS74480-supplement-Supplementary_Dataset_4.xlsx, sheet 12

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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: ARSA: 1055A>G; Asn352Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

American Journal Of Human Genetics

Garber, Kathryn B KB; Vincent, Lisa M LM; Alexander, John J JJ; Bean, Lora J H LJH; Bale, Sherri S; Hegde, Madhuri M

Publication Date: 2016-11-03

Variant appearance in text: ARSA: 1055A>G; Asn352Ser

PubMed Link: 27843123

Variant Present in the following documents:

• Main text

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

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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: rs2071421

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

Orphanet Journal Of Rare Diseases

Liaw, Hsiang-Ru HR; Lee, Hsiu-Fen HF; Chi, Ching-Shiang CS; Tsai, Chi-Ren CR

Publication Date: 2015-11-09

Variant appearance in text: ARSA: N352S

PubMed Link: 26553228

Variant Present in the following documents:

• Main text
• 13023_2015_Article_363.pdf

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Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.

Annals Of Laboratory Medicine

Han, Minje M; Jun, Sun-Hee SH; Lee, Yun-Jin YJ; Eun, Baik-Lin BL; Lee, Seung Jun SJ; Seong, Moon-Woo MW; Park, Sung Sup SS; Song, Sang Hoon SH; Park, Hyung-Doo HD; Song, Junghan J

Publication Date: 2015-07

Variant appearance in text: ARSA: 1055A>G; Asn352Ser

PubMed Link: 26131420

Variant Present in the following documents:

• Main text
• alm-35-458.pdf

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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: ARSA: N352S; rs2071421

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: ARSA: N352S; rs2071421

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7

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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: ARSA: N352S; rs2071421

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs2071421

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

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