Publications:

Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.

Medicina (Kaunas, Lithuania)

Alzahrani, Othman R OR; Alatwi, Hanan E HE; Alharbi, Amnah A AA; Alessa, Abdulrahman H AH; Al-Amer, Osama M OM; Alanazi, Abeer F R AFR; Shams, Anwar M AM; Alomari, Esra'a E; Naser, Abdallah Y AY; Alzahrani, Faisal A FA; Hosawi, Salman S; Alghamdi, Saeed M SM; Abdali, Wed A WA; Elfaki, Imadeldin I; Hawsawi, Yousef M YM

Publication Date: 2022-11-16

Variant appearance in text: PKD1: 4264G>A; A1422T; rs140980374

PubMed Link: 36422197

Variant Present in the following documents:

• Main text
• medicina-58-01657.pdf

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Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.

Npj Genomic Medicine

Tuncay, Islam Oguz IO; Parmalee, Nancy L NL; Khalil, Raida R; Kaur, Kiran K; Kumar, Ashwani A; Jimale, Mohamed M; Howe, Jennifer L JL; Goodspeed, Kimberly K; Evans, Patricia P; Alzghoul, Loai L; Xing, Chao C; Scherer, Stephen W SW; Chahrour, Maria H MH

Publication Date: 2022-02-21

Variant appearance in text: PKD1: A1422T

PubMed Link: 35190550

Variant Present in the following documents:

• 41525_2022_284_MOESM2_ESM.xlsx, sheet 9

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Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Scientific Reports

Carrera, Paola P; Calzavara, Silvia S; Magistroni, Riccardo R; den Dunnen, Johan T JT; Rigo, Francesca F; Stenirri, Stefania S; Testa, Francesca F; Messa, Piergiorgio P; Cerutti, Roberta R; Scolari, Francesco F; Izzi, Claudia C; Edefonti, Alberto A; Negrisolo, Susanna S; Benetti, Elisa E; Alibrandi, Maria Teresa Sciarrone MT; Manunta, Paolo P; Boletta, Alessandra A; Ferrari, Maurizio M

Publication Date: 2016-08-08

Variant appearance in text: PKD1: 4264G>A; Ala1422Thr; rs140980374

PubMed Link: 27499327

Variant Present in the following documents:

• srep30850-s2.xlsx, sheet 1

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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Plos One

Strom, Samuel P SP; Clark, Michael J MJ; Martinez, Ariadna A; Garcia, Sarah S; Abelazeem, Amira A AA; Matynia, Anna A; Parikh, Sachin S; Sullivan, Lori S LS; Bowne, Sara J SJ; Daiger, Stephen P SP; Gorin, Michael B MB

Publication Date: 2016

Variant appearance in text: PKD1: A1422T

PubMed Link: 26964041

Variant Present in the following documents:

• pone.0150944.s002.xls, sheet 1

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