Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ALDOB: N335K

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Estimation of hereditary fructose intolerance prevalence in the Chinese population.

Orphanet Journal Of Rare Diseases

Tang, Meiling M; Chen, Xiang X; Ni, Qi Q; Lu, Yulan Y; Wu, Bingbing B; Wang, Huijun H; Yin, Zhaoqing Z; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-08-26

Variant appearance in text: rs78340951

PubMed Link: 36028839

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2487.pdf
• 13023_2022_2487_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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EZTraits: A programmable tool to evaluate multi-site deterministic traits.

Plos One

Carland, Matt M; Pedersen, Haley H; Bose, Madhuchanda M; Novković, Biljana B; Manson, Charles C; Lahan, Shany S; Pavlenko, Alex A; Yazdi, Puya G PG; Grabherr, Manfred G MG

Publication Date: 2022

Variant appearance in text: rs78340951

PubMed Link: 35533190

Variant Present in the following documents:

• Main text
• pone.0259327.pdf

View BVdb publication page

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Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption.

Bmc Gastroenterology

Taneva, Irina I; Grumann, Dorothee D; Schmidt, Dietmar D; Taneva, Elina E; von Arnim, Ulrike U; Ansorge, Thomas T; Wex, Thomas T

Publication Date: 2022-04-06

Variant appearance in text: ALDOB: 1005C>G; Asn335Lys; rs78340951

PubMed Link: 35387598

Variant Present in the following documents:

• Main text
• 12876_2022_Article_2244.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: ALDOB: 1005C>G

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.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: ALDOB: N335K; rs78340951

PubMed Link: 35115730

Variant Present in the following documents:

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

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: ALDOB: 1005C>G; Asn335Lys; rs78340951

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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Hereditary Fructose Intolerance Diagnosed in Adulthood.

Gut And Liver

Kim, Min Soo MS; Moon, Jin Soo JS; Kim, Man Jin MJ; Seong, Moon-Woo MW; Park, Sung Sup SS; Ko, Jae Sung JS

Publication Date: 2021-01-15

Variant appearance in text: ALDOB: 1005C>G; Asn335Lys

PubMed Link: 33028743

Variant Present in the following documents:

• gnl-15-1-142.pdf

View BVdb publication page

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Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance.

Nutrients

Di Dato, Fabiola F; Spadarella, Simona S; Puoti, Maria Giovanna MG; Caprio, Maria Grazia MG; Pagliardini, Severo S; Zuppaldi, Claudia C; Vallone, Gianfranco G; Fecarotta, Simona S; Esposito, Gabriella G; Iorio, Raffaele R; Parenti, Giancarlo G; Spagnuolo, Maria Immacolata MI

Publication Date: 2019-10-07

Variant appearance in text: ALDOB: N335K

PubMed Link: 31591370

Variant Present in the following documents:

• Main text
• nutrients-11-02397.pdf

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: ALDOB: 1005C>G; Asn335Lys; rs78340951

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: ALDOB: 1005C>G; Asn335Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Fructosuria and recurrent hypoglycemia in a patient with a novel c.1693T>A variant in the 3' untranslated region of the aldolase B gene.

Sage Open Medical Case Reports

Morales-Alvarez, Martha Catalina MC; Ricardo-Silgado, Maria Laura ML; Lemus, Hernan Nicolas HN; González-Devia, Deyanira D; Mendivil, Carlos O CO

Publication Date: 2019

Variant appearance in text: ALDOB: 1005C>G

PubMed Link: 30675358

Variant Present in the following documents:

• Main text
• 10.1177_2050313X18823098.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: ALDOB: 1005C>G; Asn335Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: ALDOB: N335K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

Jimd Reports

Ferri, Lorenzo L; Caciotti, Anna A; Cavicchi, Catia C; Rigoldi, Miriam M; Parini, Rossella R; Caserta, Marina M; Chibbaro, Guido G; Gasperini, Serena S; Procopio, Elena E; Donati, Maria Alice MA; Guerrini, Renzo R; Morrone, Amelia A

Publication Date: 2012

Variant appearance in text: N/A

PubMed Link: 23430936

Variant Present in the following documents:

View BVdb publication page

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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease

Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V

Publication Date: 2011-02

Variant appearance in text: ALDOB: Asn335Lys

PubMed Link: 20821054

Variant Present in the following documents:

• 10545_2011_Article_9371.pdf

View BVdb publication page

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Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Journal Of Inherited Metabolic Disease

Coffee, Erin M EM; Yerkes, Laura L; Ewen, Elizabeth P EP; Zee, Tiffany T; Tolan, Dean R DR

Publication Date: 2010-02

Variant appearance in text: ALDOB: 1005C>G

PubMed Link: 20033295

Variant Present in the following documents:

• Main text

View BVdb publication page

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