Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: NLRP1: T782S; rs52795654

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: NLRP1: T782S

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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NGS study of glucocorticoid response genes in inflammatory bowel disease patients.

Archives Of Medical Science : Ams

Skrzypczak-Zielinska, Marzena M; Gabryel, Marcin M; Marszalek, Daria D; Dobrowolska, Agnieszka A; Slomski, Ryszard R

Publication Date: 2021

Variant appearance in text: NLRP1: Thr782Ser

PubMed Link: 33747278

Variant Present in the following documents:

• Main text
• AMS-17-2-106137.pdf

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Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Somatic Mutations in CDH1 and Other Clinically Actionable Mutations Imply Early Use of Targeted Agents.

Current Oncology (Toronto, Ont.)

Wang, Lei-Chi LC; Lin, Tai-Chi TC; Yeh, Yi-Chen YC; Ho, Hsiang-Ling HL; Tsai, Chieh-Chih CC; Chou, Teh-Ying TY

Publication Date: 2021-02-16

Variant appearance in text: NLRP1: 2345C>G; T782S

PubMed Link: 33617508

Variant Present in the following documents:

• Main text
• curroncol-28-00090.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: NLRP1: 2345C>G; T782S; rs52795654

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

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NLRP1 variant M1184V decreases inflammasome activation in the context of DPP9 inhibition and asthma severity.

The Journal Of Allergy And Clinical Immunology

Moecking, Jonas J; Laohamonthonkul, Pawat P; Chalker, Katelyn K; White, Marquitta J MJ; Harapas, Cassandra R CR; Yu, Chien-Hsiung CH; Davidson, Sophia S; Hrovat-Schaale, Katja K; Hu, Donglei D; Eng, Celeste C; Huntsman, Scott S; Calleja, Dale J DJ; Horvat, Jay C JC; Hansbro, Phil M PM; O'Donoghue, Robert J J RJJ; Ting, Jenny P JP; Burchard, Esteban G EG; Geyer, Matthias M; Gerlic, Motti M; Masters, Seth L SL

Publication Date: 2021-06

Variant appearance in text: NLRP1: T782S; rs52795654

PubMed Link: 33378691

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inflammasome genetics and complex diseases: a comprehensive review.

European Journal Of Human Genetics : Ejhg

Fernandes, Fernanda Pereira FP; Leal, Vinicius N C VNC; Souza de Lima, Dhemerson D; Reis, Edione C EC; Pontillo, Alessandra A

Publication Date: 2020-10

Variant appearance in text: NLRP1: 2345C>G; Thr782Ser; rs52795654

PubMed Link: 32499599

Variant Present in the following documents:

• Main text
• 41431_2020_Article_631.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs52795654

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: NLRP1: 2345C>G; T782S; rs52795654

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Scientific Reports

Di Gioia, Silvio Alessandro SA; Bedoni, Nicola N; von Scheven-Gête, Annette A; Vanoni, Federica F; Superti-Furga, Andrea A; Hofer, Michaël M; Rivolta, Carlo C

Publication Date: 2015-05-19

Variant appearance in text: NLRP1: 2345C>G; T782S

PubMed Link: 25988833

Variant Present in the following documents:

• srep10200-s1.pdf
• srep10200.pdf

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: NLRP1: T782S

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: NLRP1: T782S; rs52795654

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Modern vitiligo genetics sheds new light on an ancient disease.

The Journal Of Dermatology

Spritz, Richard A RA

Publication Date: 2013-05

Variant appearance in text: NLRP1: T782S

PubMed Link: 23668538

Variant Present in the following documents:

• Main text

View BVdb publication page

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NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.

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

Levandowski, Cecilia B CB; Mailloux, Christina M CM; Ferrara, Tracey M TM; Gowan, Katherine K; Ben, Songtao S; Jin, Ying Y; McFann, Kimberly K KK; Holland, Paulene J PJ; Fain, Pamela R PR; Dinarello, Charles A CA; Spritz, Richard A RA

Publication Date: 2013-02-19

Variant appearance in text: NLRP1: T782S

PubMed Link: 23382179

Variant Present in the following documents:

• Main text

View BVdb publication page

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