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B. Al‐Younes · SciRah

Researcher profile · Semantic Scholar

B. Al‐Younes

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B. Al‐Younes — researcher profile on SciRah

h-index: 14
Works: 18
Citations: 1,113

Most-cited papers

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
A. Alazami, N. Patel, H. Shamseldin, S. Anazi +49 more
2015Cell Reports461 citations Open access
Semantic Scholar
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
S. Wakil, D. Monies, M. Abouelhoda, N. Al-Tassan +7 more
2015Arthritis & Rheumatology136 citations
Semantic Scholar
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
N. Patel, M. Aldahmesh, H. Alkuraya, S. Anazi +26 more
2015Genetics in Medicine114 citations Open access
Semantic Scholar
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII
N. Kaya, H. Aldhalaan, B. Al‐Younes, D. Çolak +11 more
2011American Journal of Medical Genetics Part B: Neuropsychiatric Genetics72 citations
Semantic Scholar
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Rachel E. Reiff, Bassam R. Ali, Byron Baron, Timothy W. Yu +18 more
2014Human Molecular Genetics50 citations Open access
Semantic Scholar
A novel X‐linked disorder with developmental delay and autistic features
N. Kaya, D. Çolak, Albandary Albakheet, M. Al-Owain +20 more
2012Annals of Neurology47 citations
Semantic Scholar
Clinical and biochemical features associated with BCS1L mutation
M. Al-Owain, D. Çolak, Albandary Albakheet, B. Al‐Younes +11 more
2013Journal of Inherited Metabolic Disease37 citations Open access
Semantic Scholar
Novel mutation in GLRB in a large family with hereditary hyperekplexia
M. Al-Owain, Dilek Colak, A. Al‐Bakheet, N. Al-Hashmi +8 more
2012Clinical Genetics33 citations
Semantic Scholar
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
D. Monies, H. Al-Hindi, M. Al-Muhaizea, Dyala Jaroudi +5 more
2014Neuromuscular Disorders30 citations
Semantic Scholar
Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.
D. Çolak, H. Aldhalaan, M. Nester, Albandary Albakheet +11 more
2011Genomics29 citations Open access
Semantic Scholar
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways
M. Aldosary, A. Al‐Bakheet, H. Aldhalaan, Rawan Almass +21 more
2020Omics22 citations
Semantic Scholar
Expanding Phenotypic and Allelic Heterogeneity of Tricho-Hepato-Enteric Syndrome
D. Monies, Z. Rahbeeni, M. Abouelhoda, E. Naim +3 more
2015Journal of Pediatric Gastroenterology and Nutrition - JPGN21 citations Open access
Semantic Scholar
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
A. Chedrawi, Z. Al-Hassnan, Muhammad AlMuhaizea, D. Çolak +4 more
2012Brain & development (Tokyo. 1979)20 citations
Semantic Scholar
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Abdulaziz Alsemari, B. Al‐Younes, E. Goljan, Dyala Jaroudi +4 more
2017Human Genomics16 citations Open access
Semantic Scholar
A novel interstitial microdeletion of 7q22.1‐7q22.3 detected by array comparative genomic hybridization
Z. Al-Hassnan, A. Al‐Bakheet, Nada Abu-Dheim, B. Al‐Younes +2 more
2011American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
N. Kaya, D. Çolak, A. Al‐Bakheet, B. Al‐Younes +6 more
2013Gene7 citations
Semantic Scholar
Identification of a novel genetic locus underlying tremor and dystonia
D. Monies, H. A. Al-Shaar, E. Goljan, B. Al‐Younes +6 more
2017Human Genomics5 citations Open access
Semantic Scholar
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Abdulaziz Alsemari, B. Al‐Younes, E. Goljan, Dyala Jaroudi +4 more
2017Human Genomics5 citations Open access
Semantic Scholar

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N. Kaya×11
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N. Kaya — researcher profile on SciRah
D. Monies×8
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D. Monies — researcher profile on SciRah
D. Çolak×8
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B. Meyer×7
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H. Aldhalaan — researcher profile on SciRah

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A. Al‐Bakheet×5

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