Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

980 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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: alqahtani m. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
A genomics approach to male infertility.
Alhathal N, Maddirevula S, Coskun S, Alali H, Assoum M, Morris T, Deek HA, Hamed SA, Alsuhaibani S, Mirdawi A, Ewida N, Al-Qahtani M, Ibrahim N, Abdulwahab F, Altaweel W, Dasouki MJ, Assiri A, Qabbaj W, Alkuraya FS. Alhathal N, et al. Genet Med. 2020 Dec;22(12):1967-1975. doi: 10.1038/s41436-020-0916-0. Epub 2020 Jul 28. Genet Med. 2020. PMID: 32719396 Free article.
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS. Maddirevula S, et al. Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020. Front Genet. 2020. PMID: 33456446 Free PMC article.
ASTL is mutated in female infertility.
Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS. Maddirevula S, et al. Hum Genet. 2022 Jan;141(1):49-54. doi: 10.1007/s00439-021-02388-8. Epub 2021 Oct 26. Hum Genet. 2022. PMID: 34704130
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: alqahtani m. Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8. Genome Med. 2023. PMID: 38098057 Free PMC article.
980 results