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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
AlAbdi L, Desbois M, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC; Undiagnosed Diseases Network; Billie Au PY, Towner S, Wilson WG, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Zarate YA, Christensen EL, Opperman KJ, Giles AC, Helaby R, Kania A, Zheng N, Grill B, Alkuraya FS. AlAbdi L, et al. Among authors: helaby r. Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364. Brain. 2023. PMID: 36200388 Free PMC article.
PMEL is mutated in oculocutaneous albinism.
AlAbdi L, Alshammari M, Helaby R, Khan AO, Alkuraya FS. AlAbdi L, et al. Among authors: helaby r. Hum Genet. 2023 Jan;142(1):139-144. doi: 10.1007/s00439-022-02489-y. Epub 2022 Sep 27. Hum Genet. 2023. PMID: 36166100
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R, Ganesh A, Ibrahim N, Patel N, Alkuraya FS. Al-Abdi L, et al. Among authors: helaby r. Hum Genet. 2020 May;139(5):615-622. doi: 10.1007/s00439-020-02144-4. Epub 2020 Mar 3. Hum Genet. 2020. PMID: 32128616
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S, Kuwahara H, Ewida N, Shamseldin HE, Patel N, Alzahrani F, AlSheddi T, AlObeid E, Alenazi M, Alsaif HS, Alqahtani M, AlAli M, Al Ali H, Helaby R, Ibrahim N, Abdulwahab F, Hashem M, Hanna N, Monies D, Derar N, Alsagheir A, Alhashem A, Alsaleem B, Alhebbi H, Wali S, Umarov R, Gao X, Alkuraya FS. Maddirevula S, et al. Among authors: helaby r. Genome Biol. 2020 Jun 17;21(1):145. doi: 10.1186/s13059-020-02053-9. Genome Biol. 2020. PMID: 32552793 Free PMC article. Clinical Trial.
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS. Alkuraya H, et al. Among authors: helaby r. Clin Genet. 2020 Mar;97(3):447-456. doi: 10.1111/cge.13676. Epub 2019 Dec 2. Clin Genet. 2020. PMID: 31730227
A founder variant expands the phenotype of WNT7B-related PDAC syndrome.
AlAbdi L, Rahbeeni Z, Maddirevula S, Helaby R, Abdulwahab F, Khan AO, Riley LG, Alhashem A, Chassaing N, Jamieson RV, Alkuraya FS. AlAbdi L, et al. Among authors: helaby r. Clin Genet. 2024 Feb 28. doi: 10.1111/cge.14512. Online ahead of print. Clin Genet. 2024. PMID: 38417950
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