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: ADA: 646G>A; Gly216Arg

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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National experience with adenosine deaminase deficiency related SCID in Polish children.

Frontiers In Immunology

Dąbrowska-Leonik, Nel N; Piątosa, Barbara B; Słomińska, Ewa E; Bohynikova, Nadezda N; Bernat-Sitarz, Katarzyna K; Bernatowska, Ewa E; Wolska-Kuśnierz, Beata B; Kałwak, Krzysztof K; Kołtan, Sylwia S; Dąbrowska, Anna A; Goździk, Jolanta J; Ussowicz, Marek M; Pac, Małgorzata M

Publication Date: 2022

Variant appearance in text: ADA: Gly216Arg

PubMed Link: 36685585

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Frontiers In Immunology

Al Farsi, Tariq T; Ahmed, Khwater K; Alshekaili, Jalila J; Al Kindi, Mahmood M; Cook, Matthew M; Al-Hosni, Aliya A; Ansari, Zainab Z; Nasr, Iman I; Al Sukaiti, Nashat N

Publication Date: 2022

Variant appearance in text: ADA: 646G>A; Gly216Arg

PubMed Link: 35464432

Variant Present in the following documents:

• Main text
• fimmu-13-849694.pdf

View BVdb publication page

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Selected Abstracts from the 13th Annual Meeting of the Clinical Immunology Society: 2022 Annual Meeting: Immune Deficiency and Dysregulation North American Conference.

Journal Of Clinical Immunology

Publication Date: 2022-04

Variant appearance in text: ADA: Gly216Arg

PubMed Link: 35353336

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1216.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: ADA: 646G>A

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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The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.

Frontiers In Immunology

Tsui, Michael M; Min, Weixian W; Ng, Stephanie S; Dobbs, Kerry K; Notarangelo, Luigi D LD; Dror, Yigal Y; Grunebaum, Eyal E

Publication Date: 2021

Variant appearance in text: ADA: 646G>A

PubMed Link: 34777360

Variant Present in the following documents:

• Main text
• fimmu-12-748519.pdf

View BVdb publication page

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Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.

Frontiers In Immunology

Mantravadi, Vasudha V; Bednarski, Jeffrey J JJ; Ritter, Michelle A MA; Gu, Hongjie H; Kolicheski, Ana L AL; Horner, Caroline C; Cooper, Megan A MA; Kitcharoensakkul, Maleewan M

Publication Date: 2021

Variant appearance in text: ADA: 646G>A

PubMed Link: 34539671

Variant Present in the following documents:

• Main text
• fimmu-12-734096.pdf

View BVdb publication page

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Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Frontiers In Immunology

Vignesh, Pandiarajan P; Rawat, Amit A; Kumrah, Rajni R; Singh, Ankita A; Gummadi, Anjani A; Sharma, Madhubala M; Kaur, Anit A; Nameirakpam, Johnson J; Jindal, Ankur A; Suri, Deepti D; Gupta, Anju A; Khadwal, Alka A; Saikia, Biman B; Minz, Ranjana Walker RW; Sharma, Kaushal K; Desai, Mukesh M; Taur, Prasad P; Gowri, Vijaya V; Pandrowala, Ambreen A; Dalvi, Aparna A; Jodhawat, Neha N; Kambli, Priyanka P; Madkaikar, Manisha Rajan MR; Bhattad, Sagar S; Ramprakash, Stalin S; Cp, Raghuram R; Jayaram, Ananthvikas A; Sivasankaran, Meena M; Munirathnam, Deenadayalan D; Balaji, Sarath S; Rajendran, Aruna A; Aggarwal, Amita A; Singh, Komal K; Na, Fouzia F; George, Biju B; Mehta, Ankit A; Lashkari, Harsha Prasada HP; Uppuluri, Ramya R; Raj, Revathi R; Bartakke, Sandip S; Gupta, Kirti K; Sreedharanunni, Sreejesh S; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Chan, Koon Wing KW; Leung, Daniel D; Ohara, Osamu O; Nonoyama, Shigeaki S; Hershfield, Michael M; Lau, Yu-Lung YL; Singh, Surjit S

Publication Date: 2020

Variant appearance in text: ADA: 646G>A; G216R

PubMed Link: 33628209

Variant Present in the following documents:

• Main text
• fimmu-11-619146.pdf

View BVdb publication page

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A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.

Frontiers In Immunology

Al Sukaiti, Nashat N; Ahmed, Khwater K; Alshekaili, Jalila J; Al Kindi, Mahmood M; Cook, Matthew C MC; Farsi, Tariq Al TA

Publication Date: 2020

Variant appearance in text: ADA: 646G>A; Gly216Arg

PubMed Link: 33519828

Variant Present in the following documents:

• Main text
• fimmu-11-623199.pdf

View BVdb publication page

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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics

Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K

Publication Date: 2020-12

Variant appearance in text: ADA: 646G>A; Gly216Arg

PubMed Link: 33332384

Variant Present in the following documents:

• Main text
• pgen.1009231.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ADA: G216R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.

Frontiers In Immunology

Grunebaum, Eyal E; Campbell, Nicholas N; Leon-Ponte, Matilde M; Xu, Xiaobai X; Chapdelaine, Hugo H

Publication Date: 2020

Variant appearance in text: ADA: Gly216Arg

PubMed Link: 32695102

Variant Present in the following documents:

• Main text
• fimmu-11-01257.pdf

View BVdb publication page

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Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Journal Of Clinical Immunology

Pajno, Roberta R; Pacillo, Lucia L; Recupero, Salvatore S; Cicalese, Maria P MP; Ferrua, Francesca F; Barzaghi, Federica F; Ricci, Silvia S; Marzollo, Antonio A; Pecorelli, Silvia S; Azzari, Chiara C; Finocchi, Andrea A; Cancrini, Caterina C; Di Matteo, Gigliola G; Russo, Gianni G; Alfano, Massimo M; Lesma, Arianna A; Salonia, Andrea A; Adams, Stuart S; Booth, Claire C; Aiuti, Alessandro A

Publication Date: 2020-05

Variant appearance in text: ADA: 646G>A; G216R

PubMed Link: 32307643

Variant Present in the following documents:

• Main text
• 10875_2020_Article_777.pdf

View BVdb publication page

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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Journal Of Immunology Research

Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A

Publication Date: 2019

Variant appearance in text: ADA: G216R; rs121908723

PubMed Link: 31781678

Variant Present in the following documents:

• Main text
• JIR2019-5902391.pdf
• 5902391.f1.pdf

View BVdb publication page

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Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.

Scientific Reports

Ghaloul-Gonzalez, Lina L; Mohsen, Al-Walid AW; Karunanidhi, Anuradha A; Seminotti, Bianca B; Chong, Hey H; Madan-Khetarpal, Suneeta S; Sebastian, Jessica J; Vockley, Catherine Walsh CW; Reyes-Múgica, Miguel M; Vander Lugt, Mark T MT; Vockley, Jerry J

Publication Date: 2019-10-31

Variant appearance in text: ADA: 646G>A; Gly216Arg

PubMed Link: 31673062

Variant Present in the following documents:

• 41598_2019_51922_MOESM1_ESM.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: ADA: 646G>A; rs121908723

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: ADA: 646G>A; Gly216Arg

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.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: ADA: G216R; rs121908723

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs121908723

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

Frontiers In Immunology

Luk, Anderson Dik Wai ADW; Lee, Pamela P PP; Mao, Huawei H; Chan, Koon-Wing KW; Chen, Xiang Yuan XY; Chen, Tong-Xin TX; He, Jian Xin JX; Kechout, Nadia N; Suri, Deepti D; Tao, Yin Bo YB; Xu, Yong Bin YB; Jiang, Li Ping LP; Liew, Woei Kang WK; Jirapongsananuruk, Orathai O; Daengsuwan, Tassalapa T; Gupta, Anju A; Singh, Surjit S; Rawat, Amit A; Abdul Latiff, Amir Hamzah AH; Lee, Anselm Chi Wai ACW; Shek, Lynette P LP; Nguyen, Thi Van Anh TVA; Chin, Tek Jee TJ; Chien, Yin Hsiu YH; Latiff, Zarina Abdul ZA; Le, Thi Minh Huong TMH; Le, Nguyen Ngoc Quynh NNQ; Lee, Bee Wah BW; Li, Qiang Q; Raj, Dinesh D; Barbouche, Mohamed-Ridha MR; Thong, Meow-Keong MK; Ang, Maria Carmen D MCD; Wang, Xiao Chuan XC; Xu, Chen Guang CG; Yu, Hai Guo HG; Yu, Hsin-Hui HH; Lee, Tsz Leung TL; Yau, Felix Yat Sun FYS; Wong, Wilfred Hing-Sang WH; Tu, Wenwei W; Yang, Wangling W; Chong, Patrick Chun Yin PCY; Ho, Marco Hok Kung MHK; Lau, Yu Lung YL

Publication Date: 2017

Variant appearance in text: ADA: 646G>A; G216R

PubMed Link: 28747913

Variant Present in the following documents:

• Main text
• fimmu-08-00808.pdf

View BVdb publication page

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Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Blood

Cicalese, Maria Pia MP; Ferrua, Francesca F; Castagnaro, Laura L; Pajno, Roberta R; Barzaghi, Federica F; Giannelli, Stefania S; Dionisio, Francesca F; Brigida, Immacolata I; Bonopane, Marco M; Casiraghi, Miriam M; Tabucchi, Antonella A; Carlucci, Filippo F; Grunebaum, Eyal E; Adeli, Mehdi M; Bredius, Robbert G RG; Puck, Jennifer M JM; Stepensky, Polina P; Tezcan, Ilhan I; Rolfe, Katie K; De Boever, Erika E; Reinhardt, Rickey R RR; Appleby, Jonathan J; Ciceri, Fabio F; Roncarolo, Maria Grazia MG; Aiuti, Alessandro A

Publication Date: 2016-07-07

Variant appearance in text: N/A

PubMed Link: 27129325

Variant Present in the following documents:

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: ADA: G216R; rs121908723

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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: ADA: G216R; rs121908723

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Induced Pluripotent Stem Cells: Problems and Advantages when Applying them in Regenerative Medicine.

Acta Naturae

Medvedev, S P SP; Shevchenko, A I AI; Zakian, S M SM

Publication Date: 2010-07

Variant appearance in text: N/A

PubMed Link: 22649638

Variant Present in the following documents:

View BVdb publication page

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Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.

Bmc Bioinformatics

Faber, Kirsten K; Glatting, Karl-Heinz KH; Mueller, Phillip J PJ; Risch, Angela A; Hotz-Wagenblatt, Agnes A

Publication Date: 2011

Variant appearance in text: ADA: 646G>A; G216R

PubMed Link: 21992029

Variant Present in the following documents:

• 1471-2105-12-S4-S2-S1.pdf

View BVdb publication page

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