Publications:

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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Frontiers In Cell And Developmental Biology

Panneman, Daan M DM; Hitti-Malin, Rebekkah J RJ; Holtes, Lara K LK; de Bruijn, Suzanne E SE; Reurink, Janine J; Boonen, Erica G M EGM; Khan, Muhammad Imran MI; Ali, Manir M; Andréasson, Sten S; De Baere, Elfride E; Banfi, Sandro S; Bauwens, Miriam M; Ben-Yosef, Tamar T; Bocquet, Béatrice B; De Bruyne, Marieke M; de la Cerda, Berta B; Coppieters, Frauke F; Farinelli, Pietro P; Guignard, Thomas T; Inglehearn, Chris F CF; Karali, Marianthi M; Kjellström, Ulrika U; Koenekoop, Robert R; de Koning, Bart B; Leroy, Bart P BP; McKibbin, Martin M; Meunier, Isabelle I; Nikopoulos, Konstantinos K; Nishiguchi, Koji M KM; Poulter, James A JA; Rivolta, Carlo C; Rodríguez de la Rúa, Enrique E; Saunders, Patrick P; Simonelli, Francesca F; Tatour, Yasmin Y; Testa, Francesco F; Thiadens, Alberta A H J AAHJ; Toomes, Carmel C; Tracewska, Anna M AM; Tran, Hoai Viet HV; Ushida, Hiroaki H; Vaclavik, Veronika V; Verhoeven, Virginie J M VJM; van de Vorst, Maartje M; Gilissen, Christian C; Hoischen, Alexander A; Cremers, Frans P M FPM; Roosing, Susanne S

Publication Date: 2023

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 36819107

Variant Present in the following documents:

• Table4.xlsx, sheet 1

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: HGSNAT: A615T

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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: HGSNAT: A615T; rs112029032

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Npj Genomic Medicine

Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S

Publication Date: 2021-11-18

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 34795310

Variant Present in the following documents:

• Main text
• 41525_2021_261_MOESM2_ESM.pdf
• 41525_2021_Article_261.pdf

View BVdb publication page

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Unexpected Etiology in a Case of Bilateral Maculopathy.

Case Reports In Ophthalmology

Patel, Prem P; Jones, Kaylie K; Friedman, Deborah I DI; Birch, David G DG; Ufret-Vincenty, Rafael L RL

Publication Date: 2021

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 34326763

Variant Present in the following documents:

• Main text
• cop-0012-0622.pdf

View BVdb publication page

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Molecular genetics of inherited retinal degenerations in Icelandic patients.

Clinical Genetics

Thorsteinsson, Daniel A DA; Stefansdottir, Vigdis V; Eysteinsson, Thor T; Thorisdottir, Sigridur S; Jonsson, Jon J JJ

Publication Date: 2021-08

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 33851411

Variant Present in the following documents:

• Main text
• CGE-100-156.pdf

View BVdb publication page

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Epidemiology of Mucopolysaccharidoses Update.

Diagnostics (Basel, Switzerland)

Çelik, Betul B; Tomatsu, Saori C SC; Tomatsu, Shunji S; Khan, Shaukat A SA

Publication Date: 2021-02-10

Variant appearance in text: HGSNAT: 1843G>A

PubMed Link: 33578874

Variant Present in the following documents:

• Main text
• diagnostics-11-00273.pdf

View BVdb publication page

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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Investigative Ophthalmology & Visual Science

Colombo, Leonardo L; Maltese, Paolo E PE; Castori, Marco M; El Shamieh, Said S; Zeitz, Christina C; Audo, Isabelle I; Zulian, Alessandra A; Marinelli, Carla C; Benedetti, Sabrina S; Costantini, Alisia A; Bressan, Simone S; Percio, Marcella M; Ferri, Paolo P; Abeshi, Andi A; Bertelli, Matteo M; Rossetti, Luca L

Publication Date: 2021-02-01

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr; rs112029032

PubMed Link: 33576794

Variant Present in the following documents:

• iovs-62-2-13_s001.xlsx, sheet 4
• iovs-62-2-13_s001.xlsx, sheet 8

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: HGSNAT: 1843G>A; A615T; rs112029032

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: rs112029032

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Schiff, Elena R ER; Daich Varela, Malena M; Robson, Anthony G AG; Pierpoint, Karen K; Ba-Abbad, Rola R; Nutan, Savita S; Zein, Wadih M WM; Ullah, Ehsan E; Huryn, Laryssa A LA; Tuupanen, Sari S; Mahroo, Omar A OA; Michaelides, Michel M; Burke, Derek D; Harvey, Katie K; Arno, Gavin G; Hufnagel, Robert B RB; Webster, Andrew R AR

Publication Date: 2020-09

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 32770643

Variant Present in the following documents:

• Main text
• AJMG-184-631.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr; rs112029032

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr; rs112029032

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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: HGSNAT: 1843G>A; Ala615Thr; rs112029032

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 Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Genes

Comander, Jason J; Weigel-DiFranco, Carol C; Maher, Matthew M; Place, Emily E; Wan, Aliete A; Harper, Shyana S; Sandberg, Michael A MA; Navarro-Gomez, Daniel D; Pierce, Eric A EA

Publication Date: 2017-10-05

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 28981474

Variant Present in the following documents:

• Main text
• genes-08-00256.pdf
• genes-08-00256-s001.xlsx, sheet 1

View BVdb publication page

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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

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

Van Schil, Kristof K; Naessens, Sarah S; Van de Sompele, Stijn S; Carron, Marjolein M; Aslanidis, Alexander A; Van Cauwenbergh, Caroline C; Kathrin Mayer, Anja A; Van Heetvelde, Mattias M; Bauwens, Miriam M; Verdin, Hannah H; Coppieters, Frauke F; Greenberg, Michael E ME; Yang, Marty G MG; Karlstetter, Marcus M; Langmann, Thomas T; De Preter, Katleen K; Kohl, Susanne S; Cherry, Timothy J TJ; Leroy, Bart P BP; , ; De Baere, Elfride E

Publication Date: 2018-02

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 28749477

Variant Present in the following documents:

• gim201797x2.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: HGSNAT: 1843G>A; Ala615Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: HGSNAT: A615T; rs112029032

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

View BVdb publication page

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arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.

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

Van Cauwenbergh, Caroline C; Van Schil, Kristof K; Cannoodt, Robrecht R; Bauwens, Miriam M; Van Laethem, Thalia T; De Jaegere, Sarah S; Steyaert, Wouter W; Sante, Tom T; Menten, Björn B; Leroy, Bart P BP; Coppieters, Frauke F; De Baere, Elfride E

Publication Date: 2017-04

Variant appearance in text: HGSNAT: 1843G>A; Ala615Thr; rs112029032

PubMed Link: 27608171

Variant Present in the following documents:

• Main text
• gim2016119a.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: rs112029032

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: HGSNAT: A615T; rs112029032

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 6
• NIHMS753666-supplement-2.xlsx, sheet 7

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: rs112029032

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Human Molecular Genetics

Haer-Wigman, Lonneke L; Newman, Hadas H; Leibu, Rina R; Bax, Nathalie M NM; Baris, Hagit N HN; Rizel, Leah L; Banin, Eyal E; Massarweh, Amir A; Roosing, Susanne S; Lefeber, Dirk J DJ; Zonneveld-Vrieling, Marijke N MN; Isakov, Ofer O; Shomron, Noam N; Sharon, Dror D; Den Hollander, Anneke I AI; Hoyng, Carel B CB; Cremers, Frans P M FP; Ben-Yosef, Tamar T

Publication Date: 2015-07-01

Variant appearance in text: HGSNAT: 1843G>A; A615T

PubMed Link: 25859010

Variant Present in the following documents:

• Main text
• ddv118.pdf

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: rs112029032

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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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: HGSNAT: A615T; rs112029032

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

Plos One

Feldhammer, Matthew M; Durand, Stéphanie S; Pshezhetsky, Alexey V AV

Publication Date: 2009-10-13

Variant appearance in text: HGSNAT: A615T

PubMed Link: 19823584

Variant Present in the following documents:

• Main text
• pone.0007434.pdf

View BVdb publication page

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