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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1948 3
1950 1
1951 1
1952 1
1953 1
1954 1
1955 1
1957 3
1958 1
1959 2
1960 1
1961 3
1962 2
1970 1
1973 2
1976 1
1978 1
1985 1
1988 1
1990 1
1993 1
1995 1
1996 2
1997 1
1999 2
2002 1
2003 2
2004 2
2005 5
2006 9
2007 11
2008 7
2009 11
2010 13
2011 19
2012 19
2013 13
2014 20
2015 20
2016 37
2017 32
2018 44
2019 44
2020 59
2021 89
2022 75
2023 60
2024 80
2025 55

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675 results

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Page 1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Among authors: hashem mo. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS. Shaheen R, et al. Among authors: hashem m. 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.
Characterizing the morbid genome of ciliopathies.
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup; Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS. Shaheen R, et al. Among authors: hashem m. Genome Biol. 2016 Nov 28;17(1):242. doi: 10.1186/s13059-016-1099-5. Genome Biol. 2016. PMID: 27894351 Free PMC article.
Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Among authors: hashem m. Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Hum Genet. 2017. PMID: 28940097 Free article.
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS. Maddirevula S, et al. Among authors: hashem m. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5. Genet Med. 2018. PMID: 29620724 Free article.
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS. Maddirevula S, et al. Among authors: hashem m. Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21. Genet Med. 2019. PMID: 30237576 Free PMC article.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: hashem mo. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
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: hashem m. 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.
675 results