Publications:

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: BBS: 1091C>A

PubMed Link: 37127645

Variant Present in the following documents:

• 12920_2023_1518_MOESM2_ESM.xlsx, sheet 1

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Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.

Iscience

Marchese, Emanuela E; Caterino, Marianna M; Viggiano, Davide D; Cevenini, Armando A; Tolone, Salvatore S; Docimo, Ludovico L; Di Iorio, Valentina V; Del Vecchio Blanco, Francesca F; Fedele, Roberta R; Simonelli, Francesca F; Perna, Alessandra A; Nigro, Vincenzo V; Capasso, Giovambattista G; Ruoppolo, Margherita M; Zacchia, Miriam M

Publication Date: 2022-11-18

Variant appearance in text: BBS: 1091C>A

PubMed Link: 36281451

Variant Present in the following documents:

• Main text
• main.pdf

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Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.

Italian Journal Of Pediatrics

Manara, Elena E; Paolacci, Stefano S; D'Esposito, Fabiana F; Abeshi, Andi A; Ziccardi, Lucia L; Falsini, Benedetto B; Colombo, Leonardo L; Iarossi, Giancarlo G; Pilotta, Alba A; Boccone, Loredana L; Guerri, Giulia G; Monica, Marica M; Marta, Balzarini B; Maltese, Paolo Enrico PE; Buzzonetti, Luca L; Rossetti, Luca L; Bertelli, Matteo M

Publication Date: 2019-06-13

Variant appearance in text: BBS: 1091C>A

PubMed Link: 31196119

Variant Present in the following documents:

• Main text
• 13052_2019_Article_659.pdf

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Characterizing the morbid genome of ciliopathies.

Genome Biology

Shaheen, Ranad R; Szymanska, Katarzyna K; Basu, Basudha B; Patel, Nisha N; Ewida, Nour N; Faqeih, Eissa E; Al Hashem, Amal A; Derar, Nada N; Alsharif, Hadeel H; Aldahmesh, Mohammed A MA; Alazami, Anas M AM; Hashem, Mais M; Ibrahim, Niema N; Abdulwahab, Firdous M FM; Sonbul, Rawda R; Alkuraya, Hisham H; Alnemer, Maha M; Al Tala, Saeed S; Al-Husain, Muneera M; Morsy, Heba H; Seidahmed, Mohammed Zain MZ; Meriki, Neama N; Al-Owain, Mohammed M; AlShahwan, Saad S; Tabarki, Brahim B; Salih, Mustafa A MA; , ; Faquih, Tariq T; El-Kalioby, Mohamed M; Ueffing, Marius M; Boldt, Karsten K; Logan, Clare V CV; Parry, David A DA; Al Tassan, Nada N; Monies, Dorota D; Megarbane, Andre A; Abouelhoda, Mohamed M; Halees, Anason A; Johnson, Colin A CA; Alkuraya, Fowzan S FS

Publication Date: 2016-11-28

Variant appearance in text: BBS: 1091C>A

PubMed Link: 27894351

Variant Present in the following documents:

• 13059_2016_1099_MOESM2_ESM.xlsx, sheet 1
• 13059_2016_1099_MOESM6_ESM.xlsx, sheet 1

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