Abeer Al-Saegh

Dr.

  • 202 Citations
  • 5 h-Index
20082018
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Research Output 2008 2018

  • 202 Citations
  • 5 h-Index
  • 12 Article
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Article
2018
7 Citations (Scopus)
Exome
Intellectual Disability
Computational Biology
Genetic Databases
Phenotype
2017
4 Citations (Scopus)

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

Hydrops Fetalis
Inborn Errors Metabolism
Pregnancy
Prenatal Care
60 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

Exome
Inborn Genetic Diseases
Saudi Arabia
Mutation
Phenotype
2016
2 Citations (Scopus)
Tuberous Sclerosis
Oman
Neurocutaneous Syndromes
Brain Neoplasms
Autism Spectrum Disorder
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

Intellectual Disability
Mutation
ritrosulfan
Exome
Microcephaly
1 Citation (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

Seizures
Oman
Mutation
Inborn Genetic Diseases
Contracture
2015
1 Citation (Scopus)

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

Phenotype
Chromosome Duplication
Oman
Muscle Hypotonia
Cryptorchidism
4 Citations (Scopus)
Microarray Analysis
Oman
Population
Medicine
Autism Spectrum Disorder
2014
12 Citations (Scopus)

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

Extremities
Mutation
Mutant Proteins
Endoplasmic Reticulum
Genes
2 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

Thyroid Hormone Receptors beta
Thyroid Hormone Resistance Syndrome
Mutation
Oman
Genes
2013
45 Citations (Scopus)

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

Epigenomics
Methylation
Mutation
Mosaicism
Genes
2008
61 Citations (Scopus)

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

Microsatellite Instability
Colorectal Neoplasms
African Americans
Incidence
Population