Publications:

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: CFTR: 3854C>T; A1285V; rs397508617

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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Genetics of Male Infertility - Present and Future: A Narrative Review.

Journal Of Human Reproductive Sciences

Sudhakar, Digumarthi V S DVS; Shah, Rupin R; Gajbhiye, Rahul K RK

Publication Date: 2021

Variant appearance in text: CFTR: A1285V

PubMed Link: 34759610

Variant Present in the following documents:

• JHRS-14-217.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs397508617

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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: rs397508617

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.

The Indian Journal Of Medical Research

Gaikwad, Avinash A; Khan, Shagufta S; Kadam, Seema S; Shah, Rupin R; Kulkarni, Vijay V; Kumaraswamy, Rangaswamy R; Kadam, Kaushiki K; Dighe, Vikas V; Gajbhiye, Rahul R

Publication Date: 2020-12

Variant appearance in text: CFTR: 3854C>T; A1285V

PubMed Link: 34145097

Variant Present in the following documents:

• Main text
• IJMR-152-575.pdf

View BVdb publication page

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Bmc Medical Genetics

Singh, Kanika K; Bijarnia-Mahay, Sunita S; Ramprasad, V L VL; Puri, Ratna Dua RD; Nair, Sandhya S; Sharda, Sheetal S; Saxena, Renu R; Kohli, Sudha S; Kulshreshtha, Samarth S; Ganguli, Indrani I; Gujral, Kanwal K; Verma, Ishwar C IC

Publication Date: 2020-11-02

Variant appearance in text: CFTR: Ala1285Val

PubMed Link: 33138774

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1153.pdf

View BVdb publication page

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The histopathology of SPINK1-associated chronic pancreatitis.

Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]

Jones, Terrell E TE; Bellin, Melena D MD; Yadav, Dhiraj D; Freeman, Martin L ML; Schwarzenberg, Sarah J SJ; Slivka, Adam A; Chennat, Jennifer S JS; Beilman, Gregory J GJ; Chinnakotla, Srinath S; Pruett, Timothy L TL; Kirchner, Varvara V; Humar, Abhinav A; Wijkstrom, Martin M; Zureikat, Amer H AH; Nikiforova, Marina N MN; Wald, Abigail I AI; Whitcomb, David C DC; Singhi, Aatur D AD

Publication Date: 2020-12

Variant appearance in text: CFTR: A1285V

PubMed Link: 33097431

Variant Present in the following documents:

• Main text

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CFTR: A1285V

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13

View BVdb publication page

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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: 3854C>T; Ala1285Val

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.

The Journal Of Molecular Diagnostics : Jmd

Schwartz, Karen M KM; Pike-Buchanan, Lisa L LL; Muralidharan, Kasinathan K; Redman, Joy B JB; Wilson, Jean Amos JA; Jarvis, Michael M; Cura, M Grace MG; Pratt, Victoria M VM

Publication Date: 2009-05

Variant appearance in text: CFTR: A1285V

PubMed Link: 19324992

Variant Present in the following documents:

• Main text

View BVdb publication page

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