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Abdulrahman Alswaid

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Mohammed Aldahmesh; Mohammed Al-Owain; Abdulrahman Alswaid; Hadia Hijazi; Arif O Khan; Jawahir Y Mohamed; Fowzan S Alkuraya
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.
Wafa Qubbaj; Abdulrahman Alswaid; Saad Al-Hassan; Khalid Awartani; Hesham Deek; Serdar Coskun
First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism.
Helena E Christiansen; Ulrike Schwarze; Shawna M Pyott; Abdulrahman Alswaid; Mohammed Al Balwi; Shatha Alrasheed; Melanie Pepin; Mary Ann Weis; David R Eyre; Peter H Byers
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

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2012: Mohammed Aldahmesh; Mohammed Al-Owain; Abdulrahman Alswaid; Hadia Hijazi; Arif O Khan; Jawahir Y Mohamed; Fowzan S Alkuraya
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(12):955-62.
2011: Wafa Qubbaj; Abdulrahman Alswaid; Saad Al-Hassan; Khalid Awartani; Hesham Deek; Serdar Coskun
First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism.
Reproductive biomedicine online 2011;22(1):72-9.
2010: Helena E Christiansen; Ulrike Schwarze; Shawna M Pyott; Abdulrahman Alswaid; Mohammed Al Balwi; Shatha Alrasheed; Melanie Pepin; Mary Ann Weis; David R Eyre; Peter H Byers
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
American journal of human genetics 2010;86(3):389-98.
2008: Nicholas T Gorden; Heleen H Arts; Melissa A Parisi; Karlien L M Coene; Stef J F Letteboer; Sylvia E C van Beersum; Dorus A Mans; Abigail Hikida; Melissa Eckert; Dana Knutzen; Abdulrahman Alswaid; Hamit Ozyurek; Sel Dibooglu; Edgar Otto; Yangfan Liu; Erica E Davis; Carolyn M Hutter; Theo K Bammler; Frederico M Farin; Michael Dorschner; Meral Topçu; Elaine H Zackai; Phillip Rosenthal; Kelly N Owens; Nicholas Katsanis; John B Vincent; Friedhelm Hildebrandt; Edwin W Rubel; David W Raible; Nine V A M Knoers; Phillip F Chance; Ronald Roepman; Cecilia B Moens; Ian A Glass; Dan Doherty
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
American journal of human genetics 2008;83(5):559-71.
2007: Osama Y Al-Dirbashi; Khaled K Abu-Amero; Abdulrahman Alswaid; G F Hoffmann; Khalid Al-Qahtani; Mohamed S Rashed
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene.
Journal of inherited metabolic disease 2007;30(4):611.
2006: Melissa A Parisi; Dan Doherty; Melissa L Eckert; Dennis W W Shaw; Hamit Ozyurek; Sabiha Aysun; O Giray; Abdulrahman Alswaid; S Al Shahwan; N Dohayan; E Bakhsh; O S Indridason; William B Dobyns; Craig L Bennett; Phillip F Chance; Ian A Glass
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Journal of medical genetics 2006;43(4):334-9.
2002: Ruti Parvari; Eli Hershkovitz; Nili Grossman; Rafael Gorodischer; Bart Loeys; Alexandra Zecic; Geert R Mortier; Simon Gregory; Ram Sharony; Marios Kambouris; Nadia A Sakati; Brian F Meyer; Aida I Al Aqeel; Abdul Karim Al Humaidan; Fatma Al Zanhrani; Abdulrahman Alswaid; Johara Al Othman; George A Diaz; Rory Weiner; K Tahseen S Khan; Ronald Gordon; Bruce D Gelb
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Nature genetics 2002;32(3):448-52.
2002: Lisa M Astuto; Philip M Kelley; James W Askew; Michael D Weston; Richard J H Smith; Abdulrahman Alswaid; Mona Al-Rakaf; William J Kimberling
Searching for evidence of DFNB2.
American journal of medical genetics 2002;109(4):291-7.
2001: F S Al-Batniji; M A Mahmoud; P J Van Dijken; R H Al-Asiri; Abdulrahman Alswaid; A M Al-Marshedy
A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.
Saudi medical journal 2001;22(12):1122-6.