Abeer Al-Saegh

Dr.

  • 227 Citations
  • 5 h-Index
20082018

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

  • 227 Citations
  • 5 h-Index
  • 12 Article
Filter
Article
2018
9 Citations (Scopus)
2017

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: A single center experience

Bruwer, Z., Al Riyami, N., Al Dughaishi, T., Al Murshedi, F., Al Sayegh, A., Al Kindy, A., Meftah, D., Al Kharusi, K., Al Foori, A., Al Yarubi, N., Scott, P. & Al-Thihli, K., Aug 19 2017, (Accepted/In press) In : Unknown Journal.

Research output: Contribution to journalArticle

4 Citations (Scopus)

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, D., Abouelhoda, M., AlSayed, M., Alhassnan, Z., Alotaibi, M., Kayyali, H., Al-Owain, M., Shah, A., Rahbeeni, Z., Al-Muhaizea, M. A., Alzaidan, H. I., Cupler, E., Bohlega, S., Faqeih, E., Faden, M., Alyounes, B., Jaroudi, D., Goljan, E., Elbardisy, H., Akilan, A. & 87 others, Albar, R., Aldhalaan, H., Gulab, S., Chedrawi, A., Al Saud, B. K., Kurdi, W., Makhseed, N., Alqasim, T., El Khashab, H. Y., Al-Mousa, H., Alhashem, A., Kanaan, I., Algoufi, T., Alsaleem, K., Basha, T. A., Al-Murshedi, F., Khan, S., Al-Kindy, A., Alnemer, M., Al-Hajjar, S., Alyamani, S., Aldhekri, H., Al-Mehaidib, A., Arnaout, R., Dabbagh, O., Shagrani, M., Broering, D., Tulbah, M., Alqassmi, A., Almugbel, M., AlQuaiz, M., Alsaman, A., Al-Thihli, K., Sulaiman, R. A., Al-Dekhail, W., Alsaegh, A., Bashiri, F. A., Qari, A., Alhomadi, S., Alkuraya, H., Alsebayel, M., Hamad, M. H., Szonyi, L., Abaalkhail, F., Al-Mayouf, S. M., Almojalli, H., Alqadi, K. S., Elsiesy, H., Shuaib, T. M., Seidahmed, M. Z., Abosoudah, I., Akleh, H., AlGhonaium, A., Alkharfy, T. M., Al Mutairi, F., Eyaid, W., Alshanbary, A., Sheikh, F. R., Alsohaibani, F. I., Alsonbul, A., Al Tala, S., Balkhy, S., Bassiouni, R., Alenizi, A. S., Hussein, M. H., Hassan, S., Khalil, M., Tabarki, B., Alshahwan, S., Oshi, A., Sabr, Y., Alsaadoun, S., Salih, M. A., Mohamed, S., Sultana, H., Tamim, A., El-Haj, M., Alshahrani, S., Bubshait, D. K., Alfadhel, M., Faquih, T., El-Kalioby, M., Subhani, S., Shah, Z., Moghrabi, N., Meyer, B. F. & Alkuraya, F. S., Aug 1 2017, In : Human Genetics. 136, 8, p. 921-939 19 p.

Research output: Contribution to journalArticle

77 Citations (Scopus)
2016
3 Citations (Scopus)

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family

Al-Amri, A., Saegh, A. A., Al-Mamari, W., El-Asrag, M. E., Ivorra, J. L., Cardno, A. G., Inglehearn, C. F., Clapcote, S. J. & Ali, M., Jul 1 2016, In : American Journal of Medical Genetics, Part A. 170, 7, p. 1826-1831 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Seizures as an atypical feature of beal’s syndrome

Jaman, N. B. K. & Al-Sayegh, A., Aug 1 2016, In : Sultan Qaboos University Medical Journal. 16, 3, p. e375-e378

Research output: Contribution to journalArticle

1 Citation (Scopus)
2015

De novo duplication of 7p21.1p22.2 in a Child with autism spectrum disorder and craniofacial dysmorphism

Udayakumar, A. M., Al-Mamari, W., Al-Sayegh, A. & Al-Kindy, A., 2015, In : Sultan Qaboos University Medical Journal. 15, 3, p. e415-e419

Research output: Contribution to journalArticle

1 Citation (Scopus)
4 Citations (Scopus)
2014

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

Al-Kindi, A., Kizhakkedath, P., Xu, H., John, A., Sayegh, A. A., Ganesh, A., Al-Awadi, M., Al-Anbouri, L., Al-Gazali, L., Leitinger, B. & Ali, B. R., Apr 11 2014, In : BMC Medical Genetics. 15, 1, 42.

Research output: Contribution to journalArticle

12 Citations (Scopus)

A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: A case report

El Shafie, K., Ouhtit, A., Al Farsi, Y., Al Sayegh, A. & Al Shafaee, M., Jan 6 2014, In : Journal of Medical Case Reports. 8, 1, 12.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2013

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

Poole, R. L., Docherty, L. E., Al Sayegh, A., Caliebe, A., Turner, C., Baple, E., Wakeling, E., Harrison, L., Lehmann, A., Temple, I. K. & Mackay, D. J. G., Sep 2013, In : American Journal of Medical Genetics, Part A. 161, 9, p. 2174-2182 9 p.

Research output: Contribution to journalArticle

48 Citations (Scopus)
2008

Impact of BRAF, MLH1 on the incidence of microsatellite instability high colorectal cancer in populations based study

Brim, H., Mokarram, P., Naghibalhossaini, F., Saberi-Firoozi, M., Al-Mandhari, M., Al-Mawaly, K., Al-Mjeni, R., Al-Sayegh, A., Raeburn, S., Lee, E., Giardiello, F., Smoot, D. T., Vilkin, A., Richard, C. R., Goel, A., Hafezi, M., Nouraie, M. & Ashktorab, H., Aug 21 2008, In : Molecular Cancer. 7, 68.

Research output: Contribution to journalArticle

63 Citations (Scopus)