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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.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
By:
- Al-Hamed, Mohamed H.;
- Kurdi, Wesam;
- Khan, Rubina;
- Tulbah, Maha;
- AlNemer, Maha;
- AlSahan, Nada;
- AlMugbel, Maisoon;
- Rafiullah, Rafiullah;
- Assoum, Mirna;
- Monies, Dorota;
- Shah, Zeeshan;
- Rahbeeni, Zuhair;
- Derar, Nada;
- Hakami, Fahad;
- Almutairi, Gawaher;
- AlOtaibi, Afaf;
- Ali, Wafaa;
- AlShammasi, Amal;
- AlMubarak, Wardah;
- AlDawoud, Samia
Publication type:
Article
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00973-0
By:
- Shamseldin, Hanan E.;
- AlAbdi, Lama;
- Maddirevula, Sateesh;
- Alsaif, Hessa S.;
- Alzahrani, Fatema;
- Ewida, Nour;
- Hashem, Mais;
- Abdulwahab, Firdous;
- Abuyousef, Omar;
- Kuwahara, Hiroyuki;
- Gao, Xin;
- Molecular Autopsy Consortium;
- Aldhalaan, Hesham;
- Alfaifi, Abdullah;
- Alhashem, Amal;
- Alhasan, Khalid;
- Alnemer, Maha;
- Alsahan, Nada;
- Alyamani, Suad;
- Alzaidan, Hamad
Publication type:
Article
Confirming TBC1D32‐related ciliopathy in humans.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1985, doi. 10.1002/ajmg.a.61717
By:
- Alsahan, Nada;
- Alkuraya, Fowzan S.
Publication type:
Article
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
Published in:
Clinical Kidney Journal, 2016, v. 9, n. 6, p. 807, doi. 10.1093/ckj/sfw057
By:
- Al-Hamed, Mohamed H.;
- Kurdi, Wesam;
- Alsahan, Nada;
- Ambosaidi, Qaamariya;
- Tulbah, Maha;
- Sayer, John A.
Publication type:
Article
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Published in:
Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0681-6
By:
- Shamseldin, Hanan E.;
- Tulbah, Maha;
- Kurdi, Wesam;
- Nemer, Maha;
- Alsahan, Nada;
- Mardawi, Elham Al;
- Khalifa, Ola;
- Hashem, Amal;
- Kurdi, Ahmed;
- Babay, Zainab;
- Bubshait, Dalal K.;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Rahbeeni, Zuhair;
- Hashem, Mais;
- Alkuraya, Fowzan S.
Publication type:
Article
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.
Published in:
Clinical Genetics, 2022, v. 102, n. 1, p. 61, doi. 10.1111/cge.14128
By:
- Al‐Hamed, Mohamed H.;
- Altuwaijri, Norah;
- Alsahan, Nada;
- Ali, Wafaa;
- Abdulwahab, Firdous;
- Alzahrani, Fatema;
- Majrashi, Nada;
- Alkuraya, Fowzan S.
Publication type:
Article
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Published in:
Pediatric Nephrology, 2019, v. 34, n. 9, p. 1615, doi. 10.1007/s00467-019-04267-x
By:
- Al-Hamed, Mohamed H.;
- Alsahan, Nada;
- Rice, Sarah J.;
- Edwards, Noel;
- Nooreddeen, Eman;
- Alotaibi, Maha;
- Kurdi, Wesam;
- Alnemer, Maha;
- Altaleb, Naderah;
- Ali, Wafa;
- Al-Numair, Nouf;
- Almejaish, Najd;
- Sayer, John A.;
- Imtiaz, Faiqa
Publication type:
Article
Identification of a novel MKS locus defined by TMEM107 mutation.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 18, p. 5211, doi. 10.1093/hmg/ddv242
By:
- Shaheen, Ranad;
- Almoisheer, Agaadir;
- Faqeih, Eissa;
- Babay, Zainab;
- Monies, Dorota;
- Tassan, Nada;
- Abouelhoda, Mohamed;
- Kurdi, Wesam;
- Al Mardawi, Elham;
- Khalil, Mohamed M. I.;
- Seidahmed, Mohammed Zain;
- Alnemer, Maha;
- Alsahan, Nada;
- Sogaty, Samira;
- Alhashem, Amal;
- Singh, Ankur;
- Goyal, Manisha;
- Kapoor, Seema;
- Alomar, Rana;
- Ibrahim, Niema
Publication type:
Article
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.
Published in:
Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101687
By:
- Al-Hamed, Mohamed H.;
- Sayer, John A.;
- Alsahan, Nada;
- Edwards, Noel;
- Ali, Wafaa;
- Tulbah, Maha;
- Imtiaz, Faiqa
Publication type:
Article
Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
Published in:
Genes, 2020, v. 11, n. 9, p. 967, doi. 10.3390/genes11090967
By:
- Al-Hamed, Mohamed H.;
- Alsahan, Nada;
- Tulbah, Maha;
- Kurdi, Wesam;
- Ali, Wafa'a I.;
- Sayer, John A.;
- Imtiaz, Faiqa
Publication type:
Article
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.
Published in:
Journal of Nephrology (JNonline), 2021, v. 34, n. 3, p. 893, doi. 10.1007/s40620-020-00795-0
By:
- Al-Hamed, Mohamed H.;
- Sayer, John A.;
- Alsahan, Nada;
- Tulbah, Maha;
- Kurdi, Wesam;
- Ambusaidi, Qamariya;
- Ali, Wafaa;
- Imtiaz, Faiqa
Publication type:
Article

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