Publications:

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Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Life (Basel, Switzerland)

Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A

Publication Date: 2021-12-23

Variant appearance in text: MYBPC3: Cys1266Arg

PubMed Link: 35054407

Variant Present in the following documents:

• Main text
• life-12-00014.pdf

View BVdb publication page

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Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Life (Basel, Switzerland)

Karim, Sajjad S; Saharti, Samah S; Alganmi, Nofe N; Mirza, Zeenat Z; Alfares, Ahmed A; Turkistany, Shereen S; Al-Attas, Manal M; Noureldin, Hend H; Al Sakkaf, Khadega K; Abusamra, Heba H; Al-Qahtani, Mohammed M; Abuzenadah, Adel A

Publication Date: 2021-12-23

Variant appearance in text: MYBPC3: Cys1266Arg

PubMed Link: 35054407

Variant Present in the following documents:

• Main text
• life-12-00014.pdf

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: MYBPC3: 3796T>C; Cys1266Arg

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: MYBPC3: 3796T>C; Cys1266Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYBPC3: C1266R

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

European Journal Of Human Genetics : Ejhg

Wessels, Marja W MW; Herkert, Johanna C JC; Frohn-Mulder, Ingrid M IM; Dalinghaus, Michiel M; van den Wijngaard, Arthur A; de Krijger, Ronald R RR; Michels, Michelle M; de Coo, Irenaeus Fm IF; Hoedemaekers, Yvonne M YM; Dooijes, Dennis D

Publication Date: 2015-07

Variant appearance in text: MYBPC3: 3796T>C; Cys1266Arg

PubMed Link: 25335496

Variant Present in the following documents:

• Main text

View BVdb publication page

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