Publications:

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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Elife

Hebert, Anne A; Simons, Annet A; Schuurs-Hoeijmakers, Janneke H M JHM; Koenen, Hans J P M HJPM; Zonneveld-Huijssoon, Evelien E; Henriet, Stefanie S V SSV; Schatorjé, Ellen J H EJH; Hoppenreijs, Esther P A H EPAH; Leenders, Erika K S M EKSM; Janssen, Etienne J M EJM; Santen, Gijs W E GWE; de Munnik, Sonja A SA; van Reijmersdal, Simon V SV; van Rijssen, Esther E; Kersten, Simone S; Netea, Mihai G MG; Smeets, Ruben L RL; van de Veerdonk, Frank L FL; Hoischen, Alexander A; van der Made, Caspar I CI

Publication Date: 2022-10-17

Variant appearance in text: ALOXE3: 1889C>T; Pro630Leu

PubMed Link: 36250618

Variant Present in the following documents:

• elife-78469.pdf

View BVdb publication page

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STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.

The British Journal Of Dermatology

Nagtzaam, Ivo F IF; van Leersum, Frank S FS; Kouwenberg, Laurie C M LCM; Blok, Marinus J MJ; Vreeburg, Maaike M; Steijlen, Peter M PM; Gostyński, Antoni A; van Geel, Michel M

Publication Date: 2022-11

Variant appearance in text: ALOXE3: Pro630Leu

PubMed Link: 35822528

Variant Present in the following documents:

• Main text
• BJD-187-820.pdf

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: ALOXE3: P630L; rs147149459

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.

Frontiers In Medicine

Zwara, Agata A; Wertheim-Tysarowska, Katarzyna K; Mika, Adriana A

Publication Date: 2021

Variant appearance in text: ALOXE3: Pro630Leu

PubMed Link: 34497816

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Risk Factors for the Development of COVID-19 Coronavirus Infection.

Russian Journal Of Genetics

Glotov, O S OS; Chernov, A N AN; Scherbak, S G SG; Baranov, V S VS

Publication Date: 2021

Variant appearance in text: ALOXE3: 1889C>T; Pro630Leu; rs147149459

PubMed Link: 34483599

Variant Present in the following documents:

• Main text
• 11177_2021_Article_1482.pdf

View BVdb publication page

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Update on human genetic susceptibility to COVID-19: susceptibility to virus and response.

Human Genomics

Colona, Vito Luigi VL; Vasiliou, Vasilis V; Watt, Jessica J; Novelli, Giuseppe G; Reichardt, Juergen K V JKV

Publication Date: 2021-08-25

Variant appearance in text: rs147149459

PubMed Link: 34429158

Variant Present in the following documents:

• Main text
• 40246_2021_Article_356.pdf

View BVdb publication page

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COVID-19 one year into the pandemic: from genetics and genomics to therapy, vaccination, and policy.

Human Genomics

Novelli, Giuseppe G; Biancolella, Michela M; Mehrian-Shai, Ruty R; Colona, Vito Luigi VL; Brito, Anderson F AF; Grubaugh, Nathan D ND; Vasiliou, Vasilis V; Luzzatto, Lucio L; Reichardt, Juergen K V JKV

Publication Date: 2021-05-10

Variant appearance in text: rs147149459

PubMed Link: 33966626

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunogenetic Predictors of Severe COVID-19.

Vaccines

Malkova, Anna A; Kudlay, Dmitriy D; Kudryavtsev, Igor I; Starshinova, Anna A; Yablonskiy, Piotr P; Shoenfeld, Yehuda Y

Publication Date: 2021-03-03

Variant appearance in text: rs147149459

PubMed Link: 33802310

Variant Present in the following documents:

• Main text
• vaccines-09-00211.pdf

View BVdb publication page

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Genetic and epigenetic factors associated with increased severity of Covid-19.

Cell Biology International

Yildirim, Zafer Z; Sahin, Oyku Semahat OS; Yazar, Seyhan S; Bozok Cetintas, Vildan V

Publication Date: 2021-06

Variant appearance in text: rs147149459

PubMed Link: 33590936

Variant Present in the following documents:

• Main text
• CBIN-9999-0.pdf

View BVdb publication page

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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Genes

Hotz, Alrun A; Kopp, Julia J; Bourrat, Emmanuelle E; Oji, Vinzenz V; Komlosi, Katalin K; Giehl, Kathrin K; Bouadjar, Bakar B; Bygum, Anette A; Tantcheva-Poor, Iliana I; Hellström Pigg, Maritta M; Has, Cristina C; Yang, Zhou Z; Irvine, Alan D AD; Betz, Regina C RC; Zambruno, Giovanna G; Tadini, Gianluca G; Süßmuth, Kira K; Gruber, Robert R; Schmuth, Matthias M; Mazereeuw-Hautier, Juliette J; Jonca, Natalie N; Guez, Sophie S; Brena, Michela M; Hernandez-Martin, Angela A; van den Akker, Peter P; Bolling, Maria C MC; Hannula-Jouppi, Katariina K; Zimmer, Andreas D AD; Alter, Svenja S; Vahlquist, Anders A; Fischer, Judith J

Publication Date: 2021-01-09

Variant appearance in text: ALOXE3: Pro630Leu

PubMed Link: 33435499

Variant Present in the following documents:

• Main text
• genes-12-00080.pdf
• genes-12-00080-s001.pdf

View BVdb publication page

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Evolutionary medical insights into the SARS-CoV-2 pandemic.

Evolution, Medicine, And Public Health

Crespi, Bernard B

Publication Date: 2020

Variant appearance in text: rs147149459

PubMed Link: 33335737

Variant Present in the following documents:

• Main text
• eoaa036.pdf

View BVdb publication page

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The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.

Virus Research

Elhabyan, Abdelazeem A; Elyaacoub, Saja S; Sanad, Ehab E; Abukhadra, Abdelwahab A; Elhabyan, Asmaa A; Dinu, Valentin V

Publication Date: 2020-11

Variant appearance in text: rs147149459

PubMed Link: 32918943

Variant Present in the following documents:

• Main text
• main.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: rs147149459

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: ALOXE3: 1889C>T; Pro630Leu

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4

View BVdb publication page

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Inherited ichthyoses: molecular causes of the disease in Czech patients.

Orphanet Journal Of Rare Diseases

Borská, Romana R; Pinková, Blanka B; Réblová, Kamila K; Bučková, Hana H; Kopečková, Lenka L; Němečková, Jitka J; Puchmajerová, Alena A; Malíková, Marcela M; Hermanová, Markéta M; Fajkusová, Lenka L

Publication Date: 2019-05-02

Variant appearance in text: ALOXE3: 1889C>T; Pro630Leu

PubMed Link: 31046801

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1076.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: ALOXE3: P630L; rs147149459

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families.

Congenital Anomalies

Rahman, Simeen Ber SB; Mir, Asif A; Ahmad, Nafees N; Haider, Syed Husnain SH; Malik, Salman Akbar SA; Nasir, Muhammad M

Publication Date: 2019-05

Variant appearance in text: ALOXE3: Pro630Leu

PubMed Link: 29935003

Variant Present in the following documents:

• Main text

View BVdb publication page

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Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

International Journal Of Molecular Sciences

Wang, Tao T; Xu, Chenchen C; Zhou, Xiping X; Li, Chunjia C; Zhang, Hongbing H; Lian, Bill Q BQ; Lee, Jonathan J JJ; Shen, Jun J; Liu, Yuehua Y; Lian, Christine Guo CG

Publication Date: 2015-09-09

Variant appearance in text: rs147149459

PubMed Link: 26370990

Variant Present in the following documents:

• Main text
• ijms-16-21791.pdf

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: ALOXE3: P630L; rs147149459

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

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: rs147149459

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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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: ALOXE3: P630L

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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