Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs35383149

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

Indian Journal Of Ophthalmology

Kocaaga, Ayca A; Yimenicioglu, Sevgi S; Gürsoy, Haluk Hüseyin HH

Publication Date: 2022-07

Variant appearance in text: ALG6: 391T>C; Tyr131His

PubMed Link: 35791240

Variant Present in the following documents:

• IJO-70-2762.pdf

View BVdb publication page

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Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Cells

Bertacchi, Michele M; Tocco, Chiara C; Schaaf, Christian P CP; Studer, Michèle M

Publication Date: 2022-04-08

Variant appearance in text: ALG6: 391T>C; Tyr131His

PubMed Link: 35455940

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Journal Of Inherited Metabolic Disease

Abu Bakar, Nurulamin N; Ashikov, Angel A; Brum, Jaime Moritz JM; Smeets, Roel R; Kersten, Marjan M; Huijben, Karin K; Keng, Wee Teik WT; Speck-Martins, Carlos Eduardo CE; de Carvalho, Daniel Rocha DR; de Rizzo, Isabela Maria Pinto Oliveira IMPO; de Mello, Walquiria Domingues WD; Heiner-Fokkema, Rebecca R; Gorman, Kathleen K; Grunewald, Stephanie S; Michelakakis, Helen H; Moraitou, Marina M; Martinelli, Diego D; van Scherpenzeel, Monique M; Janssen, Mirian M; de Boer, Lonneke L; van den Heuvel, Lambertus P LP; Thiel, Christian C; Lefeber, Dirk J DJ

Publication Date: 2022-07

Variant appearance in text: ALG6: Tyr131His

PubMed Link: 35279850

Variant Present in the following documents:

• JIMD-45-769-s001.xlsx, sheet 2
• JIMD-45-769-s001.xlsx, sheet 1

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: ALG6: Y131H; rs35383149

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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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: ALG6: 391T>C; Tyr131His; rs35383149

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: ALG6: Y131H; rs35383149

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: rs35383149

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

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: ALG6: 391T>C; Tyr131His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ALG6: Y131H; rs35383149

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

Orphanet Journal Of Rare Diseases

Sabry, S S; Vuillaumier-Barrot, S S; Mintet, E E; Fasseu, M M; Valayannopoulos, V V; Héron, D D; Dorison, N N; Mignot, C C; Seta, N N; Chantret, I I; Dupré, T T; Moore, S E H SE

Publication Date: 2016-06-24

Variant appearance in text: ALG6: Y131H

PubMed Link: 27343064

Variant Present in the following documents:

• 13023_2016_Article_468.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: rs35383149

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: ALG6: Y131H

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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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget

Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A

Publication Date: 2015-07-10

Variant appearance in text: ALG6: Y131H; rs35383149

PubMed Link: 26046463

Variant Present in the following documents:

• oncotarget-06-17543-s002.xls, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: ALG6: Y131H; rs35383149

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7

View BVdb publication page

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Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.

Glycobiology

Shrimal, Shiteshu S; Gilmore, Reid R

Publication Date: 2015-07

Variant appearance in text: ALG6: Y131H

PubMed Link: 25792706

Variant Present in the following documents:

• Main text

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: ALG6: Y131H; rs35383149

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, 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: ALG6: Y131H; rs35383149

PubMed Link: 25333069

Variant Present in the following documents:

• Main text
• mgg30002-0438.pdf
• mgg30002-0438-SD2.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ALG6: Y131H; rs35383149

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Jimd Reports

Dercksen, M M; Crutchley, A C AC; Honey, E M EM; Lippert, M M MM; Matthijs, G G; Mienie, L J LJ; Schuman, H C HC; Vorster, B C BC; Jaeken, J J

Publication Date: 2013

Variant appearance in text: ALG6: 391T>C; Y131H

PubMed Link: 23430515

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights into complexity of congenital disorders of glycosylation.

Biochemia Medica

Goreta, Sandra Supraha SS; Dabelic, Sanja S; Dumic, Jerka J

Publication Date: 2012

Variant appearance in text: ALG6: 391T>C; Y131H; rs35383149

PubMed Link: 22838182

Variant Present in the following documents:

• Main text
• biochem-med-22-2-156-3.pdf

View BVdb publication page

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Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.

Genetic Testing And Molecular Biomarkers

Goreta, Sandra Supraha SS; Dabelic, Sanja S; Pavlinic, Dinko D; Lauc, Gordan G; Dumic, Jerka J

Publication Date: 2012-01

Variant appearance in text: ALG6: 391T>C; Y131H; rs35383149

PubMed Link: 21899441

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).

Molecular Genetics And Metabolism

Miller, Bradley S BS; Freeze, Hudson H HH; Hoffmann, Georg F GF; Sarafoglou, Kyriakie K

Publication Date: 2011-05

Variant appearance in text: ALG6: Tyr131His

PubMed Link: 21334936

Variant Present in the following documents:

• Main text

View BVdb publication page

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Experiences with array-based sequence capture; toward clinical applications.

European Journal Of Human Genetics : Ejhg

Almomani, Rowida R; van der Heijden, Jaap J; Ariyurek, Yavuz Y; Lai, Yuching Y; Bakker, Egbert E; van Galen, Michiel M; Breuning, Martijn H MH; den Dunnen, Johan T JT

Publication Date: 2011-01

Variant appearance in text: ALG6: 391T>C; rs35383149

PubMed Link: 21102627

Variant Present in the following documents:

View BVdb publication page

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Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

The American Journal Of Pathology

Westphal, V V; Murch, S S; Kim, S S; Srikrishna, G G; Winchester, B B; Day, R R; Freeze, H H HH

Publication Date: 2000-12

Variant appearance in text: ALG6: Y131H

PubMed Link: 11106564

Variant Present in the following documents:

• Main text

View BVdb publication page

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