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) Yale School of Medicine 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)

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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