Publications:

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Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.

Orphanet Journal Of Rare Diseases

Ibrahim, Doaa M A DMA; Ali, Ola S M OSM; Nasr, Hala H; Fateen, Ekram E; AbdelAleem, Alice A

Publication Date: 2023-03-13

Variant appearance in text: HEXA: G269S

PubMed Link: 36907859

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2637.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: HEXA: 805G>A; Gly269Ser

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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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: HEXA: G269S; rs121907954

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6

View BVdb publication page

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Dose of Isoniazid in Renal Disease for Treatment of Tuberculosis.

Annals Of Indian Academy Of Neurology

Sarma, G R K GRK

Publication Date: 2022

Variant appearance in text: HEXA: 805G>A; G269S

PubMed Link: 35936603

Variant Present in the following documents:

• AIAN-25-502b.pdf

View BVdb publication page

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Adults with lysosomal storage diseases in the undiagnosed diseases network.

Molecular Genetics & Genomic Medicine

Xiao, Changrui C; Koziura, Mary M; Cope, Heidi H; Spillman, Rebecca R; Tan, Khoon K; Hisama, Fuki M FM; Tifft, Cynthia J CJ; Toro, Camilo C

Publication Date: 2022-09

Variant appearance in text: HEXA: G269S

PubMed Link: 35848209

Variant Present in the following documents:

• Main text
• MGG3-10-e2013.pdf

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: HEXA: G269S; rs121907954

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.

Genes

La Cognata, Valentina V; Cavallaro, Sebastiano S

Publication Date: 2021-10-30

Variant appearance in text: HEXA: 805G>A; Gly269Ser; rs121907954

PubMed Link: 34828358

Variant Present in the following documents:

• Main text
• genes-12-01750.pdf

View BVdb publication page

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Serum Cytokine Profile, Beta-Hexosaminidase A Enzymatic Activity and GM2 Ganglioside Levels in the Plasma of a Tay-Sachs Disease Patient after Cord Blood Cell Transplantation and Curcumin Administration: A Case Report.

Life (Basel, Switzerland)

Shaimardanova, Alisa A AA; Chulpanova, Daria S DS; Solovyeva, Valeriya V VV; Garanina, Ekaterina E EE; Salafutdinov, Ilnur I II; Laikov, Alexander Vladimirovich AV; Kursenko, Vadim V VV; Chakrabarti, Lisa L; Zakharova, Ekaterina Yu EY; Bukina, Tatiana M TM; Baydakova, Galina V GV; Rizvanov, Albert Anatolyevich AA

Publication Date: 2021-09-24

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 34685379

Variant Present in the following documents:

• life-11-01007.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: HEXA: 805G>A; Gly269Ser; rs121907954

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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Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Plos One

Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A

Publication Date: 2021

Variant appearance in text: rs121907954

PubMed Link: 33857205

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

Molecular Genetics & Genomic Medicine

Park, Ji Hong JH; Ko, Jung Min JM; Kim, Min Sun MS; Kim, Man Jin MJ; Seong, Moon-Woo MW; Yoo, Taekyeong T; Lim, Byung Chan BC; Chae, Jong-Hee JH

Publication Date: 2021-06

Variant appearance in text: HEXA: 805G>A; Gly269Ser

PubMed Link: 33811753

Variant Present in the following documents:

• Main text
• MGG3-9-e1677.pdf

View BVdb publication page

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Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

Molecular Genetics & Genomic Medicine

Park, Ji Hong JH; Ko, Jung Min JM; Kim, Min Sun MS; Kim, Man Jin MJ; Seong, Moon-Woo MW; Yoo, Taekyeong T; Lim, Byung Chan BC; Chae, Jong-Hee JH

Publication Date: 2021-06

Variant appearance in text: HEXA: 805G>A; Gly269Ser

PubMed Link: 33811753

Variant Present in the following documents:

• Main text
• MGG3-9-e1677.pdf

View BVdb publication page

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Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.

Journal Of Neurology

Hölzer, Hans Thomas HT; Boschann, Felix F; Hennermann, Julia B JB; Hahn, Gabriele G; Hermann, Andreas A; von der Hagen, Maja M; Tüngler, Victoria V

Publication Date: 2021-06

Variant appearance in text: HEXA: 805G>A; Gly269Ser

PubMed Link: 33751187

Variant Present in the following documents:

• Main text
• 415_2021_Article_10492.pdf

View BVdb publication page

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Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind.

Frontiers In Molecular Biosciences

Cox, Timothy M TM

Publication Date: 2020

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 33005626

Variant Present in the following documents:

• Main text
• fmolb-07-00177.pdf

View BVdb publication page

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A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease).

Orphanet Journal Of Rare Diseases

Davies, Elin Haf EH; Johnston, Jean J; Toro, Camilo C; Tifft, Cynthia J CJ

Publication Date: 2020-08-03

Variant appearance in text: HEXA: GLY269SER

PubMed Link: 32746863

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1473.pdf

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: HEXA: 805G>A; G269S

PubMed Link: 32595206

Variant Present in the following documents:

• 41436_2020_869_MOESM2_ESM.xlsx, sheet 8

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: HEXA: 805G>A; Gly269Ser

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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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: HEXA: 805G>A; G269S

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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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: rs121907954

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Molecular Genetics And Metabolism Reports

Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR

Publication Date: 2019-09

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 31367523

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: HEXA: 805G>A; Gly269Ser

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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: HEXA: 805G>A; Gly269Ser

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: HEXA: G269S; rs121907954

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetics and Therapies for GM2 Gangliosidosis.

Current Gene Therapy

Cachon-Gonzalez, Maria Begona MB; Zaccariotto, Eva E; Cox, Timothy Martin TM

Publication Date: 2018

Variant appearance in text: HEXA: G269S

PubMed Link: 29618308

Variant Present in the following documents:

• Main text
• CGT-18-68.pdf

View BVdb publication page

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Lysosomal storage diseases.

Translational Science Of Rare Diseases

Ferreira, Carlos R CR; Gahl, William A WA

Publication Date: 2017-05-25

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 29152458

Variant Present in the following documents:

• Main text
• trd-2-trd005.pdf

View BVdb publication page

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Functional annotation of structural ncRNAs within enhancer RNAs in the human genome: implications for human disease.

Scientific Reports

Ren, Chao C; Liu, Feng F; Ouyang, Zhangyi Z; An, Gaole G; Zhao, Chenghui C; Shuai, Jun J; Cai, Shuhong S; Bo, Xiaochen X; Shu, Wenjie W

Publication Date: 2017-11-14

Variant appearance in text: rs121907954

PubMed Link: 29138457

Variant Present in the following documents:

• 41598_2017_15822_MOESM8_ESM.xlsx, sheet 7
• 41598_2017_15822_MOESM8_ESM.xlsx, sheet 8

View BVdb publication page

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Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Frontiers In Pharmacology

Mohamed, Fedah E FE; Al-Gazali, Lihadh L; Al-Jasmi, Fatma F; Ali, Bassam R BR

Publication Date: 2017

Variant appearance in text: HEXA: G269S

PubMed Link: 28736525

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: HEXA: 805G>A; Gly269Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

Molecular Genetics And Metabolism Reports

Sheth, Jayesh J; Mistri, Mehul M; Datar, Chaitanya C; Kalane, Umesh U; Patil, Shekhar S; Kamate, Mahesh M; Shah, Harshuti H; Nampoothiri, Sheela S; Gupta, Sarita S; Sheth, Frenny F

Publication Date: 2014

Variant appearance in text: HEXA: 805G>A; G269S

PubMed Link: 27896118

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

Molecular Biology Of The Cell

Dersh, Devin D; Iwamoto, Yuichiro Y; Argon, Yair Y

Publication Date: 2016-12-01

Variant appearance in text: HEXA: G269S

PubMed Link: 27682588

Variant Present in the following documents:

• Main text
• 3813.pdf

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: HEXA: G269S

PubMed Link: 27175728

Variant Present in the following documents:

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

View BVdb publication page

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Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo.

Molecular Therapy. Methods & Clinical Development

Tropak, Michael B MB; Yonekawa, Sayuri S; Karumuthil-Melethil, Subha S; Thompson, Patrick P; Wakarchuk, Warren W; Gray, Steven J SJ; Walia, Jagdeep S JS; Mark, Brian L BL; Mahuran, Don D

Publication Date: 2016

Variant appearance in text: HEXA: G269S

PubMed Link: 26966698

Variant Present in the following documents:

• Main text
• mtm201557.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: HEXA: G269S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: HEXA: G269S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

Plos One

Clark, Lorraine N LN; Chan, Robin R; Cheng, Rong R; Liu, Xinmin X; Park, Naeun N; Parmalee, Nancy N; Kisselev, Sergey S; Cortes, Etty E; Torres, Paola A PA; Pastores, Gregory M GM; Vonsattel, Jean P JP; Alcalay, Roy R; Marder, Karen K; Honig, Lawrence L LL; Fahn, Stanley S; Mayeux, Richard R; Shelanski, Michael M; Di Paolo, Gilbert G; Lee, Joseph H JH

Publication Date: 2015

Variant appearance in text: HEXA: G269S; rs121907954

PubMed Link: 25933391

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

Orphanet Journal Of Rare Diseases

Osher, Etty E; Fattal-Valevski, Aviva A; Sagie, Liora L; Urshanski, Nataly N; Sagiv, Nadav N; Peleg, Leah L; Lerman-Sagie, Tally T; Zimran, Ari A; Elstein, Deborah D; Navon, Ruth R; Valevski, Avi A; Stern, Naftali N

Publication Date: 2015-04-17

Variant appearance in text: HEXA: G269S

PubMed Link: 25896637

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tay-Sachs disease: current perspectives from Australia.

The Application Of Clinical Genetics

Lew, Raelia M RM; Burnett, Leslie L; Proos, Anné L AL; Delatycki, Martin B MB

Publication Date: 2015

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 25653550

Variant Present in the following documents:

• Main text
• tacg-8-019.pdf

View BVdb publication page

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Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

Molecular Genetics And Metabolism

Utz, Jeanine R Jarnes JR; Crutcher, Thomas T; Schneider, Joseph J; Sorgen, Patrick P; Whitley, Chester B CB

Publication Date: 2015-02

Variant appearance in text: HEXA: G269S

PubMed Link: 25557439

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: HEXA: G269S; rs121907954

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 1

View BVdb publication page

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Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.

Molecular Genetics & Genomic Medicine

Hoffman, Jodi D JD; Greger, Valerie V; Strovel, Erin T ET; Blitzer, Miriam G MG; Umbarger, Mark A MA; Kennedy, Caleb C; Bishop, Brian B; Saunders, Patrick P; Porreca, Gregory J GJ; Schienda, Jaclyn J; Davie, Jocelyn J; Hallam, Stephanie S; Towne, Charles C

Publication Date: 2013-11

Variant appearance in text: HEXA: 805G>A; Gly269Ser

PubMed Link: 24498621

Variant Present in the following documents:

• Main text
• mgg30001-0260.pdf

View BVdb publication page

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Atypical presentation of late-onset Tay-Sachs disease.

Muscle & Nerve

Deik, Andres A; Saunders-Pullman, Rachel R

Publication Date: 2014-05

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 24327357

Variant Present in the following documents:

• Main text

View BVdb publication page

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Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

Jimd Reports

Sheth, Jayesh J; Mistri, Mehul M; Sheth, Frenny F; Shah, Raju R; Bavdekar, Ashish A; Godbole, Koumudi K; Nanavaty, Nidhish N; Datar, Chaitanya C; Kamate, Mahesh M; Oza, Nrupesh N; Ankleshwaria, Chitra C; Mehta, Sanjeev S; Jackson, Marie M

Publication Date: 2014

Variant appearance in text: HEXA: 805G>A; G269S

PubMed Link: 23852624

Variant Present in the following documents:

• Main text

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: HEXA: 805G>A

PubMed Link: 23555759

Variant Present in the following documents:

• Main text

View BVdb publication page

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The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.

Neurology

Gan-Or, Ziv Z; Ozelius, Laurie J LJ; Bar-Shira, Anat A; Saunders-Pullman, Rachel R; Mirelman, Anat A; Kornreich, Ruth R; Gana-Weisz, Mali M; Raymond, Deborah D; Rozenkrantz, Liron L; Deik, Andres A; Gurevich, Tanya T; Gross, Susan J SJ; Schreiber-Agus, Nicole N; Giladi, Nir N; Bressman, Susan B SB; Orr-Urtreger, Avi A

Publication Date: 2013-04-23

Variant appearance in text: HEXA: G269S

PubMed Link: 23535491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.

Jimd Reports

Nakagawa, Sachiko S; Zhan, Jie J; Sun, Wei W; Ferreira, Jose Carlos JC; Keiles, Steven S; Hambuch, Tina T; Kammesheidt, Anja A; Mark, Brian L BL; Schneider, Adele A; Gross, Susan S; Schreiber-Agus, Nicole N

Publication Date: 2012

Variant appearance in text: HEXA: G269S

PubMed Link: 23430931

Variant Present in the following documents:

• Main text

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: HEXA: 805G>A; G269S; rs121907954

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

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Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

Molecular Biology International

Altarescu, Gheona G; Beeri, Rachel R; Eiges, Rachel R; Epsztejn-Litman, Silvina S; Eldar-Geva, Talia T; Elstein, Deborah D; Zimran, Ari A; Margalioth, Ehud J EJ; Levy-Lahad, Ephrat E; Renbaum, Paul P

Publication Date: 2012

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 23320174

Variant Present in the following documents:

• Main text

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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: HEXA: G269S

PubMed Link: 23052947

Variant Present in the following documents:

• 439_2012_1235_MOESM1_ESM.xls, sheet 1

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Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Plos One

Mistri, Mehul M; Tamhankar, Parag M PM; Sheth, Frenny F; Sanghavi, Daksha D; Kondurkar, Pratima P; Patil, Swapnil S; Idicula-Thomas, Susan S; Gupta, Sarita S; Sheth, Jayesh J

Publication Date: 2012

Variant appearance in text: HEXA: 805G>A; G269S

PubMed Link: 22723944

Variant Present in the following documents:

• Main text
• pone.0039122.pdf

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Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.

Journal Of Community Genetics

Lew, Raelia R; Burnett, Leslie L; Proos, Anné A

Publication Date: 2011-12

Variant appearance in text: HEXA: Gly269Ser

PubMed Link: 22109873

Variant Present in the following documents:

• Main text

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