Publications:

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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: 1421+1G>C

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: 1421+1G>C; rs147324677

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6

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: rs147324677

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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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: 1421+1G>C; rs147324677

PubMed Link: 34828358

Variant Present in the following documents:

• Main text
• genes-12-01750.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: 1421+1G>C; rs147324677

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: rs147324677

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: 1421+1G>C

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: 1421+1G>C

PubMed Link: 33811753

Variant Present in the following documents:

• Main text
• MGG3-9-e1677.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: HEXA: 1421+1G>C

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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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: 1421+1G>C

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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Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine

Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L

Publication Date: 2020-02

Variant appearance in text: HEXA: 1421+1G>C

PubMed Link: 31880409

Variant Present in the following documents:

• MGG3-8-e1053-s002.xlsx, sheet 1
• MGG3-8-e1053-s001.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: rs147324677

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: HEXA: 1421+1G>C

PubMed Link: 29795570

Variant Present in the following documents:

• Main text
• pgen.1007329.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: 1421+1G>C

PubMed Link: 29152458

Variant Present in the following documents:

• Main text
• trd-2-trd005.pdf

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: 1421+1G>C

PubMed Link: 27896118

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: HEXA: 1421+1G>C

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Medical genetics and genomic medicine in India: current status and opportunities ahead.

Molecular Genetics & Genomic Medicine

Aggarwal, Shagun S; Phadke, Shubha R SR

Publication Date: 2015-05

Variant appearance in text: HEXA: 1421+1G>C

PubMed Link: 26029702

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: 1421+1G>C

PubMed Link: 25653550

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: 1421+1G>C; rs147324677

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 1

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: 1421+1G>C

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: 1421+1G>C

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: 1421+1G>C

PubMed Link: 23535491

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: HEXA: 1421+1G>C

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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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: 1421+1G>C; rs147324677

PubMed Link: 22723944

Variant Present in the following documents:

• Main text
• pone.0039122.pdf

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: HEXA: 1421+1G>C

PubMed Link: 20672374

Variant Present in the following documents:

• Main text

View BVdb publication page

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