Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Autor: Al-Hamed MH; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia. Hamed@kfshrc.edu.sa.; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia. Hamed@kfshrc.edu.sa., Kurdi W; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., Khan R; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., Tulbah M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., AlNemer M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., AlSahan N; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., AlMugbel M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., Rafiullah R; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., Assoum M; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., Monies D; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia., Shah Z; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia., Rahbeeni Z; Medical Genetics Department, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, Saudi Arabia., Derar N; Medical Genetics Department, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, Saudi Arabia., Hakami F; King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Science, Jeddah, Saudi Arabia., Almutairi G; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., AlOtaibi A; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., Ali W; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., AlShammasi A; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., AlMubarak W; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., AlDawoud S; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., AlAmri S; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., Saeed B; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., Bukhari H; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., Ali M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia., Akili R; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia., Alquayt L; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia., Hagos S; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia., Elbardisy H; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., Akilan A; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., Almuhana N; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., AlKhalifah A; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia., Abouelhoda M; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia., Ramzan K; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia., Sayer JA; Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.; Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle University, Tyne and Wear, Newcastle upon Tyne, NE4 5PL, UK., Imtiaz F; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia. fahmad@kfshrc.edu.sa.; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia. fahmad@kfshrc.edu.sa.

Publikováno v: Human genetics [Hum Genet] 2022 Jan; Vol. 141 (1), pp. 101-126. Date of Electronic Publication: 2021 Dec 01.

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Autor: El Kautsar, Muhammad¹, Anggraeni, Nilam¹, Sari, Vivi Permata¹, Mboe, Ribka B. A.¹ ribka.brillyand.angeli-2018@fk.unair.ac.id, Widyasari, Anindya¹, Azwan, Zahwa Afdhilani¹, Amatillah, Athiyah¹, Jie, Priscillia Ivana¹, Sulistiawati², Bambang, R.³

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