Publications:

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A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight

Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2022-01-25

Variant appearance in text: rs1800728

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154-s174.xlsx, sheet 1

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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: 5461-10T>C; rs1800728

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ABCA4: 5461-10T>C; rs1800728

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

Physiological Genomics

Biswas, Pooja P; Duncan, Jacque L JL; Maranhao, Bruno B; Kozak, Igor I; Branham, Kari K; Gabriel, Luis L; Lin, Jonathan H JH; Barteselli, Giulio G; Navani, Mili M; Suk, John J; Parke, Michelle M; Schlechter, Catherine C; Weleber, Richard G RG; Heckenlively, John R JR; Dagnelie, Gislin G; Lee, Pauline P; Riazuddin, S Amer SA; Ayyagari, Radha R

Publication Date: 2017-04-01

Variant appearance in text: ABCA4: 5461-10T>C; rs1800728

PubMed Link: 28130426

Variant Present in the following documents:

• Main text

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: rs1800728

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs1800728

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Clinical and molecular characteristics of childhood-onset Stargardt disease.

Ophthalmology

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Robson, Anthony G AG; Holder, Graham E GE; Allikmets, Rando R; Michaelides, Michel M; Moore, Anthony T AT

Publication Date: 2015-02

Variant appearance in text: ABCA4: 5461-10T>C; rs1800728

PubMed Link: 25312043

Variant Present in the following documents:

• Main text
• nihms693250.pdf
• NIHMS693250-supplement-Table_4.pdf

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ABCA4 gene screening by next-generation sequencing in a British cohort.

Investigative Ophthalmology & Visual Science

Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M

Publication Date: 2013-10-11

Variant appearance in text: ABCA4: 5461-10T>C; rs1800728

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

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Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

European Journal Of Human Genetics : Ejhg

Jonsson, Frida F; Burstedt, Marie S MS; Sandgren, Ola O; Norberg, Anna A; Golovleva, Irina I

Publication Date: 2013-11

Variant appearance in text: ABCA4: 5461-10T>C; rs1800728

PubMed Link: 23443024

Variant Present in the following documents:

• Main text

View BVdb publication page

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