Residual risk for additional recessive diseases in consanguineous couples
AlAbdi, Lama, Alrashseed, Shatha, Alsulaiman, Ahood, Helaby, Rana, Imtiaz, Faiqa, Alhamed, Mohamed, Alkuraya, Fowzan S.
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
Get full text
Journal Article
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.
Published in Genome Biology (17.06.2020)
Published in Genome Biology (17.06.2020)
Get full text
Journal Article
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement
Mahajan, Sonal, Ng, Bobby George, AlAbdi, Lama, Earnest, Paul Daniel James, Sosicka, Paulina, Patel, Nisha, Helaby, Rana, Abdulwahab, Firdous, He, Miao, Alkuraya, Fowzan S, Freeze, Hudson H
Published in Journal of medical genetics (01.07.2023)
Published in Journal of medical genetics (01.07.2023)
Get full text
Journal Article
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome
AlAbdi, Lama, Rahbeeni, Zuhair, Maddirevula, Sateesh, Helaby, Rana, Abdulwahab, Firdous, Khan, Arif O., Riley, Lisa G., Alhashem, Amal, Chassaing, Nicolas, Jamieson, Robyn V., Alkuraya, Fowzan S.
Published in Clinical genetics (01.07.2024)
Published in Clinical genetics (01.07.2024)
Get full text
Journal Article
CNP deficiency causes severe hypomyelinating leukodystrophy in humans
Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, Alkuraya, Fowzan S.
Published in Human genetics (01.05.2020)
Published in Human genetics (01.05.2020)
Get full text
Journal Article
Confirming the recessive inheritance of PERP‐related erythrokeratoderma
Patel, Nisha, Alkeraye, Salim, Alobeid, Eman, Alshidi, Tarfa, Helaby, Rana, Abdulwahab, Firdous, Shamseldin, Hanan E., Alkuraya, Fowzan S.
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
Get full text
Journal Article
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome
Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
Get full text
Journal Article
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination
Khan, Arif O., AlAbdi, Lama, Patel, Nisha, Helaby, Rana, Hashem, Mais, Abdulwahab, Firdous, AlBadr, Fahad B., Alkuraya, Fowzan S.
Published in Molecular genetics & genomic medicine (01.05.2021)
Published in Molecular genetics & genomic medicine (01.05.2021)
Get full text
Journal Article
PMEL is mutated in oculocutaneous albinism
AlAbdi, Lama, Alshammari, Muneera, Helaby, Rana, Khan, Arif O., Alkuraya, Fowzan S.
Published in Human genetics (2023)
Published in Human genetics (2023)
Get full text
Journal Article
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
Zha, Congyao, Farah, Carole A, Holt, Richard J, Ceroni, Fabiola, Al-Abdi, Lama, Thuriot, Fanny, Khan, Arif O, Helaby, Rana, Lévesque, Sébastien, Alkuraya, Fowzan S, Kraus, Alison, Ragge, Nicola K, Sossin, Wayne S
Published in Human molecular genetics (04.11.2020)
Published in Human molecular genetics (04.11.2020)
Get full text
Journal Article
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects
AlAbdi, Lama, Desbois, Muriel, Rusnac, Domniţa-Valeria, Sulaiman, Raashda A, Rosenfeld, Jill A, Lalani, Seema, Murdock, David R, Burrage, Lindsay C, Billie Au, Ping Yee, Towner, Shelley, Wilson, William G, Wong, Lawrence, Brunet, Theresa, Strobl-Wildemann, Gertrud, Burton, Jennifer E, Hoganson, George, McWalter, Kirsty, Begtrup, Amber, Zarate, Yuri A, Christensen, Elyse L, Opperman, Karla J, Giles, Andrew C, Helaby, Rana, Kania, Artur, Zheng, Ning, Grill, Brock, Alkuraya, Fowzan S
Published in Brain (London, England : 1878) (19.04.2023)
Published in Brain (London, England : 1878) (19.04.2023)
Get full text
Journal Article
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.
Published in Nature communications (29.08.2023)
Published in Nature communications (29.08.2023)
Get full text
Journal Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
AlAbdi, Lama, Shamseldin, Hanan E, Khouj, Ebtissal, Helaby, Rana, Aljamal, Bayan, Alqahtani, Mashael, Almulhim, Aisha, Hamid, Halima, Hashem, Mais O, Abdulwahab, Firdous, Abouyousef, Omar, Jaafar, Amal, Alshidi, Tarfa, Al-Owain, Mohammed, Alhashem, Amal, Al Tala, Saeed, Khan, Arif O, Mardawi, Elham, Alkuraya, Hisham, Faqeih, Eissa, Afqi, Manal, Alkhalifi, Salwa, Rahbeeni, Zuhair, Hagos, Samya T, Al-Ahmadi, Wijdan, Nadeef, Seba, Maddirevula, Sateesh, Khabar, Khalid S A, Putra, Alexander, Angelov, Angel, Park, Changsook, Reyes-Ramos, Ana M, Umer, Husen, Ullah, Ikram, Driguez, Patrick, Fukasawa, Yoshinori, Cheung, Ming Sin, Gallouzi, Imed Eddine, Alkuraya, Fowzan S
Published in Genome medicine (14.12.2023)
Published in Genome medicine (14.12.2023)
Get full text
Journal Article
Front Cover
Alkuraya, Hisham, Patel, Nisha, Ibrahim, Niema, Al Ghamdi, Bandar, Alsulaiman, Sulaiman M., Nowilaty, Sawsan R., Abboud, Emad, Alturki, Ramadan, Alkharashi, Abdullah, Eyaid, Wafaa, Almasseri, Zainab, Alzaidan, Hamad, Alotaibi, Mohammed D., Abu El‐Asrar, Ahmed M., Alamro, Bandar, Helaby, Rana, Elshaer, Amani, Almontashiri, Naif A.M., Al‐Hussaini, Abdulrahman A., Alkuraya, Fowzan S.
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
Get full text
Journal Article