Publications:

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: ABCA4: 1726G>C; Asp576His

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

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Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Genes

Lynn, Jacob J; Raney, Austin A; Britton, Nathaniel N; Ramoin, Josh J; Yang, Ryan W RW; Radojevic, Bojana B; McClard, Cynthia K CK; Kingsley, Ronald R; Coussa, Razek Georges RG; Bennett, Lea D LD

Publication Date: 2022-12-26

Variant appearance in text: ABCA4: 1726G>C

PubMed Link: 36672815

Variant Present in the following documents:

• genes-14-00074.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ABCA4: D576H; rs374224955

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.

Translational Vision Science & Technology

Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG

Publication Date: 2022-09-01

Variant appearance in text: ABCA4: 1726G>C; Asp576His

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Jci Insight

Pfau, Maximilian M; Cukras, Catherine A CA; Huryn, Laryssa A LA; Zein, Wadih M WM; Ullah, Ehsan E; Boyle, Marisa P MP; Turriff, Amy A; Chen, Michelle A MA; Hinduja, Aarti S AS; Siebel, Hermann Ea HE; Hufnagel, Robert B RB; Jeffrey, Brett G BG; Brooks, Brian P BP

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Asp576His

PubMed Link: 35076026

Variant Present in the following documents:

• jciinsight-7-155373.pdf
• jciinsight-7-155373-s142.pdf

View BVdb publication page

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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: 1726G>C; Asp576His; rs374224955

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: D576H

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.

The British Journal Of Ophthalmology

Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,

Publication Date: 2019-03

Variant appearance in text: STGD1: 1726G>C

PubMed Link: 29925512

Variant Present in the following documents:

• bjophthalmol-2018-312064supp004.pdf

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Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.

Cold Spring Harbor Molecular Case Studies

Zernant, Jana J; Lee, Winston W; Nagasaki, Takayuki T; Collison, Frederick T FT; Fishman, Gerald A GA; Bertelsen, Mette M; Rosenberg, Thomas T; Gouras, Peter P; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2018-08

Variant appearance in text: ABCA4: 1726G>C

PubMed Link: 29848554

Variant Present in the following documents:

• Main text
• MCS002733Zer.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs374224955

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.

Retina (Philadelphia, Pa.)

Collison, Frederick T FT; Fishman, Gerald A GA; McAnany, J Jason JJ; Zernant, Jana J; Allikmets, Rando R

Publication Date: 2014-09

Variant appearance in text: ABCA4: Asp576His

PubMed Link: 24695063

Variant Present in the following documents:

• Main text

View BVdb publication page

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The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Retina (Philadelphia, Pa.)

Chun, Robert R; Fishman, Gerald A GA; Collison, Frederick T FT; Stone, Edwin M EM; Zernant, Jana J; Allikmets, Rando R

Publication Date: 2014-07

Variant appearance in text: ABCA4: D576H

PubMed Link: 24317291

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1726G>C; D576H

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page

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