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Genomic and phenotypic delineation of congenital microcephaly.
Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14.
Genet Med. 2019.
PMID: 30214071
Free PMC article.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS.
Alshenaifi J, et al. Among authors: alkhalifi s.
Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18.
Clin Genet. 2019.
PMID: 30561787
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Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Al-Hassnan ZN, Almesned A, Tulbah S, Alakhfash A, Alhadeq F, Alruwaili N, Alkorashy M, Alhashem A, Alrashdan A, Faqeih E, Alkhalifi SM, Al Humaidi Z, Sogaty S, Azhari N, Bakhaider AM, Al Asmari A, Awaji A, Albash B, Alhabdan M, Alghamdi MA, Alshuaibi W, Al-Hassnan RZ, Alshenqiti A, Alqahtani A, Shinwari Z, Rbabeh M, Takroni S, Alomrani A, Albert Brotons DC, AlQwaee AM, Almanea W, Alfadley FA, Alfayyadh M, Alwadai A.
Al-Hassnan ZN, et al. Among authors: alkhalifi sm.
Circ Genom Precis Med. 2020 Oct;13(5):504-514. doi: 10.1161/CIRCGEN.120.002969. Epub 2020 Sep 1.
Circ Genom Precis Med. 2020.
PMID: 32870709
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Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B.
van Spronsen FJ, et al. Among authors: alkhalifi sm.
J Med Genet. 2017 Aug 9:jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. Online ahead of print.
J Med Genet. 2017.
PMID: 28794131
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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L, Shamseldin HE, Khouj E, Helaby R, Aljamal B, Alqahtani M, Almulhim A, Hamid H, Hashem MO, Abdulwahab F, Abouyousef O, Jaafar A, Alshidi T, Al-Owain M, Alhashem A, Al Tala S, Khan AO, Mardawi E, Alkuraya H, Faqeih E, Afqi M, Alkhalifi S, Rahbeeni Z, Hagos ST, Al-Ahmadi W, Nadeef S, Maddirevula S, Khabar KSA, Putra A, Angelov A, Park C, Reyes-Ramos AM, Umer H, Ullah I, Driguez P, Fukasawa Y, Cheung MS, Gallouzi IE, Alkuraya FS.
AlAbdi L, et al. Among authors: alkhalifi s.
Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8.
Genome Med. 2023.
PMID: 38098057
Free PMC article.
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