Publications:

---

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: 872C>T; Ser291Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Journal Of The American Heart Association

Whittaker, Ed E; Thrippleton, Sophie S; Chong, Liza Y W LYW; Collins, Victoria G VG; Ferguson, Amy C AC; Henshall, David E DE; Lancastle, Emily E; Wilkinson, Tim T; Wilson, Blair B; Wilson, Kirsty K; Sudlow, Cathie C; Wardlaw, Joanna J; Rannikmäe, Kristiina K

Publication Date: 2022-06-21

Variant appearance in text: ADA: 872C>T; S291L

PubMed Link: 35699195

Variant Present in the following documents:

• JAH3-11-e025629-s001.pdf
• JAH3-11-e025629.pdf

View BVdb publication page

---

A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine

Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y

Publication Date: 2022-06

Variant appearance in text: ADA: S291L

PubMed Link: 35665479

Variant Present in the following documents:

• Main text
• CTM2-12-e843-s002.xlsx, sheet 10
• CTM2-12-e843-s002.xlsx, sheet 6
• CTM2-12-e843.pdf
• CTM2-12-e843-s002.xlsx, sheet 7

View BVdb publication page

---

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: S291L

PubMed Link: 33628209

Variant Present in the following documents:

• fimmu-11-619146.pdf

View BVdb publication page

---

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: S291L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: S291L

PubMed Link: 32307643

Variant Present in the following documents:

• Main text
• 10875_2020_Article_777.pdf

View BVdb publication page

---

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: S291L; rs121908721

PubMed Link: 31781678

Variant Present in the following documents:

• JIR2019-5902391.pdf
• 5902391.f1.pdf

View BVdb publication page

---

Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: ADA: S291L

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia.

Frontiers In Pediatrics

Tripodi, Serena I SI; Corti, Paola P; Giliani, Silvia S; Lanfranchi, Arnalda A; Biondi, Andrea A; Badolato, Raffaele R

Publication Date: 2018

Variant appearance in text: ADA: S291L

PubMed Link: 30327760

Variant Present in the following documents:

• Main text
• fped-06-00272.pdf

View BVdb publication page

---

Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient.

Clinical Immunology (Orlando, Fla.)

Lanfranchi, Arnalda A; Lougaris, Vassilios V; Notarangelo, Lucia Dora LD; Soncini, Elena E; Comini, Marta M; Beghin, Alessandra A; Bolda, Federica F; Montanelli, Alessandro A; Imberti, Luisa L; Porta, Fulvio F

Publication Date: 2018-08

Variant appearance in text: ADA: Ser291Leu

PubMed Link: 29355610

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: rs121908721

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

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: ADA: S291L

PubMed Link: 27129325

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs121908721

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: ADA: S291L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Esid 2014 oral presentations.

Journal Of Clinical Immunology

Publication Date: 2014-10

Variant appearance in text: ADA: S291L

PubMed Link: 25344390

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

Blood

Candotti, Fabio F; Shaw, Kit L KL; Muul, Linda L; Carbonaro, Denise D; Sokolic, Robert R; Choi, Christopher C; Schurman, Shepherd H SH; Garabedian, Elizabeth E; Kesserwan, Chimene C; Jagadeesh, G Jayashree GJ; Fu, Pei-Yu PY; Gschweng, Eric E; Cooper, Aaron A; Tisdale, John F JF; Weinberg, Kenneth I KI; Crooks, Gay M GM; Kapoor, Neena N; Shah, Ami A; Abdel-Azim, Hisham H; Yu, Xiao-Jin XJ; Smogorzewska, Monika M; Wayne, Alan S AS; Rosenblatt, Howard M HM; Davis, Carla M CM; Hanson, Celine C; Rishi, Radha G RG; Wang, Xiaoyan X; Gjertson, David D; Yang, Otto O OO; Balamurugan, Arumugam A; Bauer, Gerhard G; Ireland, Joanna A JA; Engel, Barbara C BC; Podsakoff, Gregory M GM; Hershfield, Michael S MS; Blaese, R Michael RM; Parkman, Robertson R; Kohn, Donald B DB

Publication Date: 2012-11-01

Variant appearance in text: ADA: 872C>T

PubMed Link: 22968453

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 872C>T; S291L

PubMed Link: 21992029

Variant Present in the following documents:

• 1471-2105-12-S4-S2-S1.pdf

View BVdb publication page

---