Publications:

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Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data.

Genes

Toncheva, Draga D; Marinova, Maria M; Chobanov, Todor T; Serbezov, Dimitar D

Publication Date: 2023-03-16

Variant appearance in text: ASPA: 854A>C; Glu285Ala; rs28940279

PubMed Link: 36980999

Variant Present in the following documents:

• Main text
• genes-14-00727.pdf

View BVdb publication page

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: ASPA: E285A; rs28940279

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: ASPA: 854A>C; Glu285Ala

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

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: ASPA: E285A; rs28940279

PubMed Link: 35115730

Variant Present in the following documents:

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

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: ASPA: E285A

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.

Annals Of Indian Academy Of Neurology

Gowda, Vykuntaraju K VK; Bharathi, Narmadham K NK; Bettaiah, Jamunashree J; Bhat, Maya M; Shivappa, Sanjay K SK

Publication Date: 2021

Variant appearance in text: ASPA: E285A

PubMed Link: 34446995

Variant Present in the following documents:

• AIAN-24-347.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: ASPA: 854A>C; Glu285Ala; rs28940279

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
• 41525_2021_203_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Orphanet Journal Of Rare Diseases

Bley, Annette A; Denecke, Jonas J; Kohlschütter, Alfried A; Schön, Gerhard G; Hischke, Sandra S; Guder, Philipp P; Bierhals, Tatjana T; Lau, Heather H; Hempel, Maja M; Eichler, Florian S FS

Publication Date: 2021-05-19

Variant appearance in text: ASPA: Glu285Ala

PubMed Link: 34011350

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Feng, Lizhao L; Chao, Jianfei J; Tian, E E; Li, Li L; Ye, Peng P; Zhang, Mi M; Chen, Xianwei X; Cui, Qi Q; Sun, Guihua G; Zhou, Tao T; Felix, Gerardo G; Qin, Yue Y; Li, Wendong W; Meza, Edward David ED; Klein, Jeremy J; Ghoda, Lucy L; Hu, Weidong W; Luo, Yonglun Y; Dang, Wei W; Hsu, David D; Gold, Joseph J; Goldman, Steven A SA; Matalon, Reuben R; Shi, Yanhong Y

Publication Date: 2020-12

Variant appearance in text: ASPA: E285A

PubMed Link: 33304759

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D

Publication Date: 2020-10

Variant appearance in text: ASPA: 854A>C

PubMed Link: 32595206

Variant Present in the following documents:

• 41436_2020_869_MOESM2_ESM.xlsx, sheet 13

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: ASPA: 854A>C; Glu285Ala

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: ASPA: 854A>C; Glu285Ala

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Crawford, Dana C DC; Lin, John J; Cooke Bailey, Jessica N JN; Kinzy, Tyler T; Sedor, John R JR; O'Toole, John F JF; Bush, William S WS

Publication Date: 2020

Variant appearance in text: rs28940279

PubMed Link: 31797629

Variant Present in the following documents:

• Main text
• nihms-1061500.pdf

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: ASPA: 854A>C; rs28940279

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.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: ASPA: 854A>C; Glu285Ala

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: ASPA: E285A; rs28940279

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Plos Genetics

Rivas, Manuel A MA; Avila, Brandon E BE; Koskela, Jukka J; Huang, Hailiang H; Stevens, Christine C; Pirinen, Matti M; Haritunians, Talin T; Neale, Benjamin M BM; Kurki, Mitja M; Ganna, Andrea A; Graham, Daniel D; Glaser, Benjamin B; Peter, Inga I; Atzmon, Gil G; Barzilai, Nir N; Levine, Adam P AP; Schiff, Elena E; Pontikos, Nikolas N; Weisburd, Ben B; Lek, Monkol M; Karczewski, Konrad J KJ; Bloom, Jonathan J; Minikel, Eric V EV; Petersen, Britt-Sabina BS; Beaugerie, Laurent L; Seksik, Philippe P; Cosnes, Jacques J; Schreiber, Stefan S; Bokemeyer, Bernd B; Bethge, Johannes J; , ; , ; , ; Heap, Graham G; Ahmad, Tariq T; Plagnol, Vincent V; Segal, Anthony W AW; Targan, Stephan S; Turner, Dan D; Saavalainen, Paivi P; Farkkila, Martti M; Kontula, Kimmo K; Palotie, Aarno A; Brant, Steven R SR; Duerr, Richard H RH; Silverberg, Mark S MS; Rioux, John D JD; Weersma, Rinse K RK; Franke, Andre A; Jostins, Luke L; Anderson, Carl A CA; Barrett, Jeffrey C JC; MacArthur, Daniel G DG; Jalas, Chaim C; Sokol, Harry H; Xavier, Ramnik J RJ; Pulver, Ann A; Cho, Judy H JH; McGovern, Dermot P B DPB; Daly, Mark J MJ

Publication Date: 2018-05

Variant appearance in text: ASPA: Glu285Ala

PubMed Link: 29795570

Variant Present in the following documents:

• Main text
• pgen.1007329.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: ASPA: 854A>C; Glu285Ala; rs28940279

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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: ASPA: 854A>C; Glu285Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Recent omics technologies and their emerging applications for personalised medicine.

Iet Systems Biology

Kim, Dong-Hyuk DH; Kim, Young-Sook YS; Son, Nam-Il NI; Kang, Chan-Koo CK; Kim, Ah-Ram AR

Publication Date: 2017-06

Variant appearance in text: ASPA: E285A

PubMed Link: 28518059

Variant Present in the following documents:

• Main text

View BVdb publication page

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Differential analysis of mutations in the Jewish population and their implications for diseases.

Genetics Research

Einhorn, Yaron Y; Weissglas-Volkov, Daphna D; Carmi, Shai S; Ostrer, Harry H; Friedman, Eitan E; Shomron, Noam N

Publication Date: 2017-05-15

Variant appearance in text: rs28940279

PubMed Link: 28502252

Variant Present in the following documents:

• Main text
• S0016672317000015a.pdf

View BVdb publication page

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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Human Mutation

Mendes, Marisa I MI; Smith, Desirée Ec DE; Pop, Ana A; Lennertz, Pascal P; Fernandez Ojeda, Matilde R MR; Kanhai, Warsha A WA; van Dooren, Silvy Jm SJ; Anikster, Yair Y; Barić, Ivo I; Boelen, Caroline C; Campistol, Jaime J; de Boer, Lonneke L; Kariminejad, Ariana A; Kayserili, Hulya H; Roubertie, Agathe A; Verbruggen, Krijn T KT; Vianey-Saban, Christine C; Williams, Monique M; Salomons, Gajja S GS

Publication Date: 2017-05

Variant appearance in text: ASPA: 854A>C; Glu285Ala

PubMed Link: 28101991

Variant Present in the following documents:

• Main text
• HUMU-38-524.pdf

View BVdb publication page

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Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Plos One

Fujikura, Kohei K

Publication Date: 2016

Variant appearance in text: ASPA: Glu285Ala; rs28940279

PubMed Link: 27219052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: ASPA: E285A

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1
• 12920_2016_Article_184.pdf

View BVdb publication page

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A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Iranian Journal Of Child Neurology

Ashrafi, Mahmoudreza M; Tavasoli, Alireza A; Katibeh, Pegah P; Aryani, Omid O; Vafaee-Shahi, Mohammad M

Publication Date: 2015

Variant appearance in text: ASPA: E285A

PubMed Link: 26664442

Variant Present in the following documents:

• Main text
• ijcn-9-054.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: rs28940279

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Early diagnosis of Canavan syndrome: how can we get there?

Bmj Case Reports

De Bernardo, Giuseppe G; Giordano, Maurizio M; Sordino, Desiree D; Buono, Salvatore S

Publication Date: 2015-08-05

Variant appearance in text: ASPA: Glu285Ala

PubMed Link: 26245283

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: ASPA: E285A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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: rs28940279

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: ASPA: E285A; rs28940279

PubMed Link: 25333069

Variant Present in the following documents:

• mgg30002-0438-SD2.pdf

View BVdb publication page

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Clinical applications involving CNS gene transfer.

Advances In Genetics

Kantor, Boris B; McCown, Thomas T; Leone, Paola P; Gray, Steven J SJ

Publication Date: 2014

Variant appearance in text: ASPA: E285A

PubMed Link: 25311921

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: ASPA: E285A; rs28940279

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 1

View BVdb publication page

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High-throughput carrier screening using TaqMan allelic discrimination.

Plos One

Fedick, Anastasia A; Su, Jing J; Jalas, Chaim C; Northrop, Lesley L; Devkota, Batsal B; Ekstein, Josef J; Treff, Nathan R NR

Publication Date: 2013

Variant appearance in text: ASPA: 854A>C

PubMed Link: 23555759

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long-term follow-up after gene therapy for canavan disease.

Science Translational Medicine

Leone, Paola P; Shera, David D; McPhee, Scott W J SW; Francis, Jeremy S JS; Kolodny, Edwin H EH; Bilaniuk, Larissa T LT; Wang, Dah-Jyuu DJ; Assadi, Mitra M; Goldfarb, Olga O; Goldman, H Warren HW; Freese, Andrew A; Young, Deborah D; During, Matthew J MJ; Samulski, R Jude RJ; Janson, Christopher G CG

Publication Date: 2012-12-19

Variant appearance in text: ASPA: E285A

PubMed Link: 23253610

Variant Present in the following documents:

• Main text

View BVdb publication page

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The population genetics of the Jewish people.

Human Genetics

Ostrer, Harry H; Skorecki, Karl K

Publication Date: 2013-02

Variant appearance in text: ASPA: E285A

PubMed Link: 23052947

Variant Present in the following documents:

• 439_2012_1235_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Human Mutation

Scott, Stuart A SA; Edelmann, Lisa L; Liu, Liu L; Luo, Minjie M; Desnick, Robert J RJ; Kornreich, Ruth R

Publication Date: 2010-11

Variant appearance in text: ASPA: E285A

PubMed Link: 20672374

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

The Journal Of Molecular Diagnostics : Jmd

Kalman, Lisa L; Wilson, Jean Amos JA; Buller, Arlene A; Dixon, John J; Edelmann, Lisa L; Geller, Louis L; Highsmith, William Edward WE; Holtegaard, Leonard L; Kornreich, Ruth R; Rohlfs, Elizabeth M EM; Payeur, Toby L TL; Sellers, Tina T; Toji, Lorraine L; Muralidharan, Kasinathan K

Publication Date: 2009-11

Variant appearance in text: ASPA: 854A>C; E285A

PubMed Link: 19815695

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational analysis of aspartoacylase: implications for Canavan disease.

Brain Research

Hershfield, Jeremy R JR; Pattabiraman, Nagarajan N; Madhavarao, Chikkathur N CN; Namboodiri, M A Aryan MA

Publication Date: 2007-05-07

Variant appearance in text: ASPA: E285A

PubMed Link: 17391648

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Külm, Maigi M; Gardner, Phyllis I PI; Pergament, Eugene P EP; Fiddler, Morris B MB

Publication Date: 2007-04

Variant appearance in text: ASPA: E285A

PubMed Link: 17384215

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bitto, Eduard E; Bingman, Craig A CA; Wesenberg, Gary E GE; McCoy, Jason G JG; Phillips, George N GN

Publication Date: 2007-01-09

Variant appearance in text: ASPA: E285A

PubMed Link: 17194761

Variant Present in the following documents:

• Main text

View BVdb publication page

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Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Madhavarao, Chikkathur N CN; Arun, Peethambaran P; Moffett, John R JR; Szucs, Sylvia S; Surendran, Sankar S; Matalon, Reuben R; Garbern, James J; Hristova, Diana D; Johnson, Anne A; Jiang, Wei W; Namboodiri, M A Aryan MA

Publication Date: 2005-04-05

Variant appearance in text: ASPA: E285A

PubMed Link: 15784740

Variant Present in the following documents:

• Main text

View BVdb publication page

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