Publications:

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An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.

Sage Open Medical Case Reports

Irilouzadian, Rana R; Goudarzi, Ali A; Hesami, Hamed H; Sarmadian, Roham R; Biglari, Habibe Nejad HN; Gilani, Abolfazl A

Publication Date: 2023

Variant appearance in text: ASPA: 914C>A; Ala305Glu

PubMed Link: 36968992

Variant Present in the following documents:

• Main text
• 10.1177_2050313X231160885.pdf

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: 914C>A; Ala305Glu

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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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: A305E

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: A305E

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: 914C>A; Ala305Glu; rs28940574

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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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: Ala305Glu

PubMed Link: 34011350

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1659.pdf

View BVdb publication page

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Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair.

Frontiers In Cellular Neuroscience

Lotun, Anoushka A; Gessler, Dominic J DJ; Gao, Guangping G

Publication Date: 2021

Variant appearance in text: ASPA: A305E

PubMed Link: 33967698

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: 914C>A

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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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: 914C>A; Ala305Glu

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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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: 914C>A; rs28940574

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ASPA: A305E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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: 914C>A; Ala305Glu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.

Biomed Research International

Froukh, Tawfiq T

Publication Date: 2019

Variant appearance in text: ASPA: 914C>A; Ala305Glu

PubMed Link: 30834272

Variant Present in the following documents:

• Main text
• BMRI2019-7235914.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: ASPA: 914C>A; A305E; rs28940574

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Exome Pool-Seq in neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg

Popp, Bernt B; Ekici, Arif B AB; Thiel, Christian T CT; Hoyer, Juliane J; Wiesener, Antje A; Kraus, Cornelia C; Reis, André A; Zweier, Christiane C

Publication Date: 2017-12

Variant appearance in text: ASPA: 914C>A; Ala305Glu; rs28940574

PubMed Link: 29158550

Variant Present in the following documents:

• 41431_2017_22_MOESM6_ESM.xlsx, sheet 6

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: 914C>A; Ala305Glu; rs28940574

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: ASPA: A305E; rs28940574

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.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: 914C>A; Ala305Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 914C>A; Ala305Glu

PubMed Link: 28101991

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

Orphanet Journal Of Rare Diseases

Merrill, Steven T ST; Nelson, Gary R GR; Longo, Nicola N; Bonkowsky, Joshua L JL

Publication Date: 2016-12-07

Variant appearance in text: ASPA: 914C>A; Ala305Glu

PubMed Link: 27927234

Variant Present in the following documents:

• Main text
• 13023_2016_Article_549.pdf

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: ASPA: 914C>A; A305E

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: rs28940574

PubMed Link: 27219052

Variant Present in the following documents:

• Main text
• pone.0155552.s003.pdf
• pone.0155552.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: Ala305Glu

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: rs28940574

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: A305E

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: A305E

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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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: A305E; rs28940574

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: 914C>A

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: A305E

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: A305E

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: A305E

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: 914C>A; A305E

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: A305E

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: A305E

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: A305E

PubMed Link: 17194761

Variant Present in the following documents:

• Main text

View BVdb publication page

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