Publications:

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine

Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B

Publication Date: 2023-04-17

Variant appearance in text: CFTR/MRP: 263T>A

PubMed Link: 37066513

Variant Present in the following documents:

• EMMM-15-e17078-s005.xlsx, sheet 5

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Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.

International Journal Of Molecular Sciences

Wagner, Roland N RN; Wießner, Michael M; Friedrich, Andreas A; Zandanell, Johanna J; Breitenbach-Koller, Hannelore H; Bauer, Johann W JW

Publication Date: 2023-03-23

Variant appearance in text: CFTR: L88X

PubMed Link: 37047074

Variant Present in the following documents:

• Main text
• ijms-24-06101.pdf

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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: CFTR: 263T>A; Leu88Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.

Journal Of Personalized Medicine

Bowling, Alyssa A; Eastman, Alice A; Merlo, Christian C; Lin, Gabrielle G; West, Natalie N; Patel, Shivani S; Cutting, Garry G; Sharma, Neeraj N

Publication Date: 2022-09-01

Variant appearance in text: CFTR: L88X

PubMed Link: 36143233

Variant Present in the following documents:

• Main text
• jpm-12-01448.pdf

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A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Bmc Urology

Zou, Ci C; Yu, Dexin D; Geng, Hao H; Lan, Xiaofeng X; Sun, Wei W

Publication Date: 2022-02-02

Variant appearance in text: CFTR: L88X

PubMed Link: 35109852

Variant Present in the following documents:

• Main text
• 12894_2022_Article_965.pdf

View BVdb publication page

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A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Bmc Urology

Zou, Ci C; Yu, Dexin D; Geng, Hao H; Lan, Xiaofeng X; Sun, Wei W

Publication Date: 2022-02-02

Variant appearance in text: CFTR: L88X

PubMed Link: 35109852

Variant Present in the following documents:

• Main text
• 12894_2022_Article_965.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: L88X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: L88X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs397508412

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: CFTR: L88X

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

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Disulfide disruption reverses mucus dysfunction in allergic airway disease.

Nature Communications

Morgan, Leslie E LE; Jaramillo, Ana M AM; Shenoy, Siddharth K SK; Raclawska, Dorota D; Emezienna, Nkechinyere A NA; Richardson, Vanessa L VL; Hara, Naoko N; Harder, Anna Q AQ; NeeDell, James C JC; Hennessy, Corinne E CE; El-Batal, Hassan M HM; Magin, Chelsea M CM; Grove Villalon, Diane E DE; Duncan, Gregg G; Hanes, Justin S JS; Suk, Jung Soo JS; Thornton, David J DJ; Holguin, Fernando F; Janssen, William J WJ; Thelin, William R WR; Evans, Christopher M CM

Publication Date: 2021-01-11

Variant appearance in text: CFTR: L88X

PubMed Link: 33431872

Variant Present in the following documents:

• 41467_2020_20499_MOESM3_ESM.pdf

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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Plos Genetics

Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR

Publication Date: 2018-11

Variant appearance in text: CFTR: L88X

PubMed Link: 30444886

Variant Present in the following documents:

• Main text

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p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Human Genome Variation

Tian, Xinlun X; Liu, Yaping Y; Yang, Jun J; Wang, Han H; Liu, Tao T; Xu, Wenbing W; Li, Xue X; Zhu, Yuanjue Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2016

Variant appearance in text: CFTR: L88*

PubMed Link: 27081564

Variant Present in the following documents:

• hgv201563.pdf

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Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Annals Of Laboratory Medicine

Publication Date: 2015-01

Variant appearance in text: CFTR: L88X

PubMed Link: 25553309

Variant Present in the following documents:

• alm-35-185.pdf

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Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

The Korean Journal Of Laboratory Medicine

Jung, Haiyoung H; Ki, Chang-Seok CS; Koh, Won-Jung WJ; Ahn, Kang-Mo KM; Lee, Sang-Il SI; Kim, Jeong-Ho JH; Ko, Jae Sung JS; Seo, Jeong Kee JK; Cha, Seung-Ick SI; Lee, Eun-Sil ES; Kim, Jong-Won JW

Publication Date: 2011-07

Variant appearance in text: CFTR: L88X

PubMed Link: 21779199

Variant Present in the following documents:

• kjlm-31-219.pdf

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