Publications:

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 1995C>A; Tyr665Ter; rs757302286

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: Y665X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)

Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P

Publication Date: 2020

Variant appearance in text: rs757302286

PubMed Link: 31934596

Variant Present in the following documents:

• Main text
• 40662_2019_Article_168.pdf

View BVdb publication page

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Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Molecular Genetics & Genomic Medicine

Yohe, Sophia S; Sivasankar, Malaichamy M; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Holle, Jennifer J; Murugan, Sakthivel S; Gupta, Ravi R; Schimmenti, Lisa A LA; Vedam, Ramprasad R; Thyagarajan, Bharat B

Publication Date: 2020-02

Variant appearance in text: ABCA4: 1995C>A

PubMed Link: 31816670

Variant Present in the following documents:

• MGG3-8-e1081-s001.xlsx, sheet 1

View BVdb publication page

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Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg

Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2017-06

Variant appearance in text: ABCA4: 1995C>A; Y665*

PubMed Link: 28327576

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.

Investigative Ophthalmology & Visual Science

Singh, Hardeep Pal HP; Jalali, Subhadra S; Narayanan, Raja R; Kannabiran, Chitra C

Publication Date: 2009-09

Variant appearance in text: ABCA4: 1995C>A; Tyr665X

PubMed Link: 19339744

Variant Present in the following documents:

• Main text

View BVdb publication page

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