Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Deutsch K, Klämbt V, Kitzler TM, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, El Desoky S, Kari JA, Hafeez F, Szczepańska M, Eid LA, Awad HS, Al-Saffar M, Soliman NA, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum LM, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane SM, Rodig N, Hildebrandt F (2024)

Publication Type: Journal article

Publication year: 2024

Journal

Genes & Diseases Chongqing Medical University

Book Volume: 11

Article Number: 101111

Journal Issue: 5

DOI: 10.1016/j.gendis.2023.101111

Involved external institutions

Veterans Affairs Healthcare System Boston and Harvard Medical School US United States (USA) (US) King Abdulaziz University (KAU) / جامعة الملك عبد العزيز SA Saudi Arabia (SA) Children Hospital Lahore PK Pakistan (PK) Medical University of Silesia in Katowice / Śląski Uniwersytet Medyczny w Katowicach (SUM) PL Poland (PL) Dubai Hospital AE United Arab Emirates (AE) United Arab Emirates University / جامعة الإمارات العربية المتحدة AE United Arab Emirates (AE) Yale School of Medicine US United States (USA) (US)

How to cite

APA:

Deutsch, K., Klämbt, V., Kitzler, T.M., Jobst-Schwan, T., Schneider, R., Buerger, F.,... Hildebrandt, F. (2024). Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions. Genes & Diseases, 11(5). https://doi.org/10.1016/j.gendis.2023.101111

MLA:

Deutsch, Konstantin, et al. "Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions." Genes & Diseases 11.5 (2024).

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