Publications:

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A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

The Journal Of Experimental Medicine

Bonnard, Carine C; Navaratnam, Naveenan N; Ghosh, Kakaly K; Chan, Puck Wee PW; Tan, Thong Teck TT; Pomp, Oz O; Ng, Alvin Yu Jin AYJ; Tohari, Sumanty S; Changede, Rishita R; Carling, David D; Venkatesh, Byrappa B; Altunoglu, Umut U; Kayserili, Hülya H; Reversade, Bruno B

Publication Date: 2020-12-07

Variant appearance in text: PON1: 380T>G; Met127Arg; rs144390653

PubMed Link: 32845958

Variant Present in the following documents:

• JEM_20191561_TableS1.xlsx, sheet 4
• JEM_20191561_TableS1.xlsx, sheet 3

View BVdb publication page

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In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer

Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H

Publication Date: 2020-05

Variant appearance in text: PON1: 380T>G; M127R; rs144390653

PubMed Link: 32457125

Variant Present in the following documents:

• jitc-2019-000204supp003.xlsx, sheet 3

View BVdb publication page

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An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.

Scientific Reports

Bacchelli, Elena E; Cameli, Cinzia C; Viggiano, Marta M; Igliozzi, Roberta R; Mancini, Alice A; Tancredi, Raffaella R; Battaglia, Agatino A; Maestrini, Elena E

Publication Date: 2020-02-21

Variant appearance in text: PON1: M127R; rs144390653

PubMed Link: 32081867

Variant Present in the following documents:

• 41598_2020_59922_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: PON1: M127R; rs144390653

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

Plos One

Barber, Louise J LJ; Rosa Rosa, Juan M JM; Kozarewa, Iwanka I; Fenwick, Kerry K; Assiotis, Ioannis I; Mitsopoulos, Costas C; Sims, David D; Hakas, Jarle J; Zvelebil, Marketa M; Lord, Christopher J CJ; Ashworth, Alan A

Publication Date: 2011

Variant appearance in text: PON1: M127R

PubMed Link: 21750719

Variant Present in the following documents:

• pone.0021639.s006.xls, sheet 1

View BVdb publication page

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Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Annals Of Neurology

Ticozzi, Nicola N; LeClerc, Ashley Lyn AL; Keagle, Pamela J PJ; Glass, Jonathan D JD; Wills, Anne-Marie AM; van Blitterswijk, Marka M; Bosco, Daryl A DA; Rodriguez-Leyva, Ildefonso I; Gellera, Cinzia C; Ratti, Antonia A; Taroni, Franco F; McKenna-Yasek, Diane D; Sapp, Peter C PC; Silani, Vincenzo V; Furlong, Clement E CE; Brown, Robert H RH; Landers, John E JE

Publication Date: 2010-07

Variant appearance in text: PON: M127R

PubMed Link: 20582942

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

American Journal Of Ophthalmology

Pauer, Gayle J T GJ; Sturgill, Gwen M GM; Peachey, Neal S NS; Hagstrom, Stephanie A SA; ,

Publication Date: 2010-03

Variant appearance in text: PON1: Met127Arg

PubMed Link: 20042177

Variant Present in the following documents:

• Main text

View BVdb publication page

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