Publications:

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Neonatal Hereditary Fructose Intolerance: Diagnostic Misconceptions and the Role of Genomic Sequencing.

Jpgn Reports

Lee, Jeffrey J; Arenth, Joshua J; Kasi, Nagraj N

Publication Date: 2021-05

Variant appearance in text: ALDOB: 448G>C; Ala150Pro

PubMed Link: 37207065

Variant Present in the following documents:

• Main text
• pg9-2-e076.pdf

View BVdb publication page

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Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.

Jhep Reports : Innovation In Hepatology

Zheng, Melanie M; Huang, Daniel Q DQ; Konkwo, Chigoziri C; Agrawal, Saaket S; Khera, Amit V AV; Loomba, Rohit R; Vilarinho, Sílvia S; Ajmera, Veeral V

Publication Date: 2023-04

Variant appearance in text: ALDOB: Ala150Pro

PubMed Link: 36937991

Variant Present in the following documents:

• Main text
• mmc4.pdf
• mmc1.pdf
• main.pdf

View BVdb publication page

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Precision information extraction for rare disease epidemiology at scale.

Journal Of Translational Medicine

Kariampuzha, William Z WZ; Alyea, Gioconda G; Qu, Sue S; Sanjak, Jaleal J; Mathé, Ewy E; Sid, Eric E; Chatelaine, Haley H; Yadaw, Arjun A; Xu, Yanji Y; Zhu, Qian Q

Publication Date: 2023-02-28

Variant appearance in text: ALDOB: 448G>C; A150P

PubMed Link: 36855134

Variant Present in the following documents:

• 12967_2023_4011_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene

Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M

Publication Date: 2022-06

Variant appearance in text: rs1800546

PubMed Link: 36479490

Variant Present in the following documents:

• Main text
• jpmh-2022-02-e102.pdf

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: rs1800546

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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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T

Publication Date: 2022-09-01

Variant appearance in text: ALDOB: 448G>C; Ala150Pro

PubMed Link: 36007526

Variant Present in the following documents:

• mmc2.xlsx, sheet 8

View BVdb publication page

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature Communications

Owen, Mallory J MJ; Lefebvre, Sebastien S; Hansen, Christian C; Kunard, Chris M CM; Dimmock, David P DP; Smith, Laurie D LD; Scharer, Gunter G; Mardach, Rebecca R; Willis, Mary J MJ; Feigenbaum, Annette A; Niemi, Anna-Kaisa AK; Ding, Yan Y; Van Der Kraan, Luca L; Ellsworth, Katarzyna K; Guidugli, Lucia L; Lajoie, Bryan R BR; McPhail, Timothy K TK; Mehtalia, Shyamal S SS; Chau, Kevin K KK; Kwon, Yong H YH; Zhu, Zhanyang Z; Batalov, Sergey S; Chowdhury, Shimul S; Rego, Seema S; Perry, James J; Speziale, Mark M; Nespeca, Mark M; Wright, Meredith S MS; Reese, Martin G MG; De La Vega, Francisco M FM; Azure, Joe J; Frise, Erwin E; Rigby, Charlene Son CS; White, Sandy S; Hobbs, Charlotte A CA; Gilmer, Sheldon S; Knight, Gail G; Oriol, Albert A; Lenberg, Jerica J; Nahas, Shareef A SA; Perofsky, Kate K; Kim, Kyu K; Carroll, Jeanne J; Coufal, Nicole G NG; Sanford, Erica E; Wigby, Kristen K; Weir, Jacqueline J; Thomson, Vicki S VS; Fraser, Louise L; Lazare, Seka S SS; Shin, Yoon H YH; Grunenwald, Haiying H; Lee, Richard R; Jones, David D; Tran, Duke D; Gross, Andrew A; Daigle, Patrick P; Case, Anne A; Lue, Marisa M; Richardson, James A JA; Reynders, John J; Defay, Thomas T; Hall, Kevin P KP; Veeraraghavan, Narayanan N; Kingsmore, Stephen F SF

Publication Date: 2022-07-26

Variant appearance in text: ALDOB: 448G>C; Ala150Pro

PubMed Link: 35882841

Variant Present in the following documents:

• 41467_2022_31446_MOESM7_ESM.xlsx, sheet 5
• 41467_2022_31446_MOESM5_ESM.pdf
• 41467_2022_Article_31446.pdf

View BVdb publication page

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Increased carbohydrate deficient transferrin: Whisky or candy?

Jhep Reports : Innovation In Hepatology

Giguet, Baptiste B; Bruneel, Arnaud A; Vuillaumier Barrot, Sandrine S; Moirand, Romain R; Bardou Jacquet, Edouard E

Publication Date: 2022-07

Variant appearance in text: ALDOB: Ala150Pro

PubMed Link: 35647502

Variant Present in the following documents:

• Main text
• main.pdf

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: rs1800546

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: 448G>C; Ala150Pro; rs1800546

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: 448G>C

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: A150P; rs1800546

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: Ala150Pro; rs1800546

PubMed Link: 34078906

Variant Present in the following documents:

• Main text
• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
• 41525_2021_203_MOESM4_ESM.xlsx, sheet 1

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: ALDOB: A150P

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis

Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M

Publication Date: 2020-11-09

Variant appearance in text: rs1800546

PubMed Link: 33170161

Variant Present in the following documents:

• Main text
• ACTA-91-11.pdf

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: 448G>C; Ala150Pro

PubMed Link: 33028743

Variant Present in the following documents:

• gnl-15-1-142.pdf

View BVdb publication page

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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

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

Alaimo, Joseph T JT; Glinton, Kevin E KE; Liu, Ning N; Xiao, Jing J; Yang, Yaping Y; Reid Sutton, V V; Elsea, Sarah H SH

Publication Date: 2020-09

Variant appearance in text: ALDOB: 448G>C; Ala150Pro

PubMed Link: 32439973

Variant Present in the following documents:

• NIHMS1603460-supplement-Supplemental_Data.xlsx, sheet 2

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ALDOB: 448G>C; A150P

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 3
• 41467_2020_16067_MOESM6_ESM.xlsx, sheet 1

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: ALDOB: 448G>C; Ala150Pro; rs1800546

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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Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.

Frontiers In Genetics

Abramovs, Nikita N; Brass, Andrew A; Tassabehji, May M

Publication Date: 2020

Variant appearance in text: ALDOB: 448G>C; rs1800546

PubMed Link: 32231685

Variant Present in the following documents:

• Main text
• fgene-11-00210.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ALDOB: 448G>C; Ala150Pro

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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: A150P

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: 448G>C; Ala150Pro; rs1800546

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: ALDOB: 448G>C; Ala150Pro

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.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: 448G>C; Ala150Pro

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: 448G>C

PubMed Link: 30675358

Variant Present in the following documents:

• Main text
• 10.1177_2050313X18823098.pdf

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: ALDOB: A150P; rs1800546

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: ALDOB: 448G>C; A150P; rs1800546

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.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: ALDOB: 448G>C; Ala150Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: ALDOB: A150P; rs1800546

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: rs1800546

PubMed Link: 27408750

Variant Present in the following documents:

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: ALDOB: A150P; rs1800546

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 8

View BVdb publication page

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Hereditary fructose intolerance in Brazilian patients.

Molecular Genetics And Metabolism Reports

Valadares, Eugênia Ribeiro ER; Cruz, Ana Facury da AF; Adelino, Talita Emile Ribeiro TE; Kanufre, Viviane de Cássia Vde C; Ribeiro, Maria do Carmo Mdo C; Penido, Maria Goretti Moreira Guimarães MG; Peret Filho, Luciano Amedee LA; Valadares, Laís Maria Santos Valadares E LM

Publication Date: 2015-09

Variant appearance in text: ALDOB: A150P

PubMed Link: 26937407

Variant Present in the following documents:

• Main text
• main.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: rs1800546

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: ALDOB: A150P

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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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: ALDOB: A150P; rs1800546

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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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: ALDOB: A150P; rs1800546

PubMed Link: 25333069

Variant Present in the following documents:

• mgg30002-0438-SD2.pdf

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: ALDOB: A150P

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

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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: ALDOB: Ala150Pro

PubMed Link: 23430936

Variant Present in the following documents:

• Main text

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Proteomic analysis of lysine acetylation sites in rat tissues reveals organ specificity and subcellular patterns.

Cell Reports

Lundby, Alicia A; Lage, Kasper K; Weinert, Brian T BT; Bekker-Jensen, Dorte B DB; Secher, Anna A; Skovgaard, Tine T; Kelstrup, Christian D CD; Dmytriyev, Anatoliy A; Choudhary, Chunaram C; Lundby, Carsten C; Olsen, Jesper V JV

Publication Date: 2012-08-30

Variant appearance in text: ALDOB: A150P

PubMed Link: 22902405

Variant Present in the following documents:

• Main text
• nihms591251.pdf

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Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.

Journal Of Inherited Metabolic Disease

Coffee, Erin M EM; Tolan, Dean R DR

Publication Date: 2010-12

Variant appearance in text: ALDOB: 448G>C; A150P

PubMed Link: 20882353

Variant Present in the following documents:

• Main text

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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: Ala150Pro

PubMed Link: 20821054

Variant Present in the following documents:

• 10545_2011_Article_9371.pdf

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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: 448G>C

PubMed Link: 20033295

Variant Present in the following documents:

• Main text

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