Publications:

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The genetic landscape of inherited retinal dystrophies in Arabs.

Bmc Medical Genomics

Jaffal, Lama L; Joumaa, Hawraa H; Noureldine, Jinane J; Banjak, Malak M; Ibrahim, Mariam M; Mrad, Zamzam Z; Salami, Ali A; Shamieh, Said El SE

Publication Date: 2023-05-01

Variant appearance in text: ABCA4: 5460+1G>A

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Genes

Azab, Bilal B; Dardas, Zain Z; Aburizeg, Dunia D; Al-Bdour, Muawyah M; Abu-Ameerh, Mohammed M; Saleh, Tareq T; Barham, Raghda R; Maswadi, Ranad R; Ababneh, Nidaa A NA; Alsalem, Mohammad M; Zouk, Hana H; Amr, Sami S; Awidi, Abdalla A

Publication Date: 2021-04-19

Variant appearance in text: rs61753030

PubMed Link: 33921607

Variant Present in the following documents:

• Main text

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: 5460+1G>A

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Genome Biology

Maddirevula, Sateesh S; Kuwahara, Hiroyuki H; Ewida, Nour N; Shamseldin, Hanan E HE; Patel, Nisha N; Alzahrani, Fatema F; AlSheddi, Tarfa T; AlObeid, Eman E; Alenazi, Mona M; Alsaif, Hessa S HS; Alqahtani, Maha M; AlAli, Maha M; Al Ali, Hatoon H; Helaby, Rana R; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Hanna, Nadine N; Monies, Dorota D; Derar, Nada N; Alsagheir, Afaf A; Alhashem, Amal A; Alsaleem, Badr B; Alhebbi, Hamoud H; Wali, Sami S; Umarov, Ramzan R; Gao, Xin X; Alkuraya, Fowzan S FS

Publication Date: 2020-06-17

Variant appearance in text: ABCA4: 5460+1G>A

PubMed Link: 32552793

Variant Present in the following documents:

• 13059_2020_2053_MOESM9_ESM.xlsx, sheet 1
• 13059_2020_2053_MOESM2_ESM.xlsx, sheet 1
• 13059_2020_2053_MOESM3_ESM.xlsx, sheet 1

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Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.

Molecular Genetics & Genomic Medicine

Abu-Ameerh, Mohammed M; Mohammad, Hashim H; Dardas, Zain Z; Barham, Raghda R; Ali, Dema D; Bijawi, Maysa M; Tawalbeh, Mohamed M; Amr, Sami S; Hatmal, Ma'mon M MM; Al-Bdour, Muawyah M; Awidi, Abdalla A; Azab, Belal B

Publication Date: 2020-03

Variant appearance in text: ABCA4: 5460+1G>A; rs61753030

PubMed Link: 31968401

Variant Present in the following documents:

• Main text
• MGG3-8-e1123.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: ABCA4: 5460+1G>A; rs61753030

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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