Publications:

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Genome Medicine

Shamseldin, Hanan E HE; AlAbdi, Lama L; Maddirevula, Sateesh S; Alsaif, Hessa S HS; Alzahrani, Fatema F; Ewida, Nour N; Hashem, Mais M; Abdulwahab, Firdous F; Abuyousef, Omar O; Kuwahara, Hiroyuki H; Gao, Xin X; , ; Alkuraya, Fowzan S FS

Publication Date: 2021-10-13

Variant appearance in text: TXNDC15: 103+1G>A

PubMed Link: 34645488

Variant Present in the following documents:

• 13073_2021_973_MOESM1_ESM.xlsx, sheet 1
• 13073_2021_973_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Genome Medicine

Shamseldin, Hanan E HE; AlAbdi, Lama L; Maddirevula, Sateesh S; Alsaif, Hessa S HS; Alzahrani, Fatema F; Ewida, Nour N; Hashem, Mais M; Abdulwahab, Firdous F; Abuyousef, Omar O; Kuwahara, Hiroyuki H; Gao, Xin X; , ; Alkuraya, Fowzan S FS

Publication Date: 2021-10-13

Variant appearance in text: TXNDC15: 103+1G>A

PubMed Link: 34645488

Variant Present in the following documents:

• 13073_2021_973_MOESM3_ESM.xlsx, sheet 2
• 13073_2021_973_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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: TXNDC15: 103+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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A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Molecular Genetics & Genomic Medicine

Ridnõi, Konstantin K; Šois, Marek M; Vaidla, Eve E; Pajusalu, Sander S; Kelder, Larissa L; Reimand, Tiia T; Õunap, Katrin K

Publication Date: 2019-05

Variant appearance in text: TXNDC15: 103+1G>A

PubMed Link: 30851085

Variant Present in the following documents:

• Main text
• MGG3-7-e614.pdf

View BVdb publication page