FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Wafaa Eyaid

Research Profile

Physiology

Concepts & Ideas

Disorders

Procedures

DNA Mutational Analysis

Living Beings

Geographic Areas

Saudi Arabia

Genes & Molecular Sequences

Amino Acid Sequences

Chemicals & Drugs

Anatomy

Co-author Network

Publications

TOP 3
Majid Alfadhel; Khalid Al-Thihli; Wafaa Eyaid; Hiba Moubayed; Majed Al-Jeraisy
Drug treatment of inborn errors of metabolism: a systematic review.
M Chiara Manzini; Thomas M Maynard; Marina Mora; Isabella Moroni; Jennifer N Partlow; Jacqueline Rodriguez; Mustafa A Salih; Kevin V Shianna; Christine R Stevens; Dimira E Tambunan; Abdel-Karim Al-Qudah; Brenda J Barry; Alan H Beggs; Robin Clark; Wafaa Eyaid; Jan M Friedman; Stacey B Gabriel; Vandana A Gupta; Erin L Heinzen; R Sean Hill; Tim W Yu; Christopher Walsh
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Wafaa Eyaid; Ruqaiah S Al-Tassan; Doha M Al-Nouri
Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be?

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Wafaa Eyaid (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Majid Alfadhel; Khalid Al-Thihli; Wafaa Eyaid; Hiba Moubayed; Majed Al-Jeraisy
Drug treatment of inborn errors of metabolism: a systematic review.
Archives of disease in childhood 2013;98(6):454-61.
2012: M Chiara Manzini; Thomas M Maynard; Marina Mora; Isabella Moroni; Jennifer N Partlow; Jacqueline Rodriguez; Mustafa A Salih; Kevin V Shianna; Christine R Stevens; Dimira E Tambunan; Abdel-Karim Al-Qudah; Brenda J Barry; Alan H Beggs; Robin Clark; Wafaa Eyaid; Jan M Friedman; Stacey B Gabriel; Vandana A Gupta; Erin L Heinzen; R Sean Hill; Tim W Yu; Christopher Walsh
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
American journal of human genetics 2012;91(3):541-7.
2012: Wafaa Eyaid; Ruqaiah S Al-Tassan; Doha M Al-Nouri
Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be?
Neurosciences (Riyadh, Saudi Arabia) 2012;17(3):248-52.
2011: Wafaa Eyaid; Mohammad M Al-Qattan; Ibrahim Al Abdulkareem; Nouf Fetaini; Mohammed Al Balwi
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
American journal of medical genetics. Part A 2011;155A(3):599-604.
2010: Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hulya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Peter J Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
American journal of human genetics 2010;86(5):696-706.
2010: Jun Shen; Edward C Gilmore; Christine A Marshall; Mary Haddadin; John J Reynolds; Wafaa Eyaid; Adria Bodell; Brenda Barry; Danielle Gleason; Kathryn Allen; Vijay S Ganesh; Bernard S Chang; Arthur Grix; R Sean Hill; Meral Topcu; Keith W Caldecott; A James Barkovich; Christopher Walsh
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Nature genetics 2010;42(3):245-9.
2009: Mohammad M Al-Qattan; M Al-Balwi; Wafaa Eyaid; I Al-Abdulkarim; S Al-Turki
Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.
The Journal of hand surgery, European volume 2009;34(2):247-51.
2008: Carmen C Leitch; Norann Zaghloul; Erica E Davis; Corinne Stoetzel; Anna Diaz Font; Suzanne Rix; Majid Alfadhel; Majid Al-Fadhel; Richard Alan Lewis; Wafaa Eyaid; Eyal Banin; Helene Dollfus; Philip L Beales; Jose L Badano; Nicholas Katsanis
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Nature genetics 2008;40(4):443-8.
2007: J Christopher Fromme; Mariella Ravazzola; Susan Hamamoto; Mohammed Al-Balwi; Wafaa Eyaid; Simeon Boyd; Pierre Cosson; Randy Schekman; Lelio Orci
The genetic basis of a craniofacial disease provides insight into COPII coat assembly.
Developmental cell 2007;13(5):623-34.
2007: Mohammad M Al-Qattan; Wafaa Eyaid; Mohammed Al-Balwi
Congenital duplication of the palm syndrome.
Annals of plastic surgery 2007;59(3):341-3.
2006: Simeon Boyd; J Christopher Fromme; Jalel BEN GHOZZIA; Samuel S Chong; Christopher Nauta; David J Hur; George Zhang; Susan Hamamoto; Randy Schekman; Mariella Ravazzola; Lelio Orci; Wafaa Eyaid
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
Nature genetics 2006;38(10):1192-7.
2005: J Shen; Wafaa Eyaid; Ganeshwaran H Mochida; F Al-Moayyad; Adria Bodell; C Geoffrey Woods; Christopher Walsh
ASPM mutations identified in patients with primary microcephaly and seizures.
Journal of medical genetics 2005;42(9):725-9.
2005: Mohamed S Rashed; Amal A A Saadallah; Zuhair Rahbeeni; Wafaa Eyaid; Mohamed Z Seidahmed; Saad Al-Shahwan; Mustafa A Salih; Mohammad E Osman; Mohammed Al-Amoudi; Lujane Y Al-Ahaidib; Minnie Jacob
Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.
Biomedical chromatography : BMC 2005;19(3):223-30.
2005: Sophie C Currier; Christine K Lee; Bernard S Chang; Adria Bodell; G Shashidhar Pai; Leela Job; Lieven Lagae; Lihadh Al-Gazali; Wafaa Eyaid; Greg Enns; William B Dobyns; Christopher Walsh
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
American journal of medical genetics. Part A 2005;133A(1):53-7.
2005: Wafaa Eyaid; Doha M Al-Nouri; Mohamed S Rashed; Muhammad T Al-Rifai; Anwar S Al-Wakeel
An inborn error of metabolism presenting as hypoxic-ischemic insult.
Pediatric neurology 2005;32(2):134-6.
2004: Russell J Ferland; Wafaa Eyaid; Randall V Collura; Laura D Tully; R Sean Hill; Doha Al-Nouri; Ahmed Al-Rumayyan; Meral Topcu; Generoso Gascon; Adria Bodell; Yin Yao Shugart; Maryellen Ruvolo; Christopher Walsh
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Nature genetics 2004;36(9):1008-13.
2004: Christian G Frank; Claudia E Grubenmann; Wafaa Eyaid; Eric G Berger; Markus Aebi; Thierry Hennet
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.
American journal of human genetics 2004;75(1):146-50.
2004: Ganeshwaran H Mochida; Anna Rajab; Wafaa Eyaid; A Lu; D Al-Nouri; Kenjiro Kosaki; mehrdad noruzinia; P Sarda; J Ishihara; Adria Bodell; Kira Apse; Christopher Walsh
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
Journal of medical genetics 2004;41(6):e87.
2004: Riikka H Hämäläinen; Kristiina Avela; Julie A Lambert; Jukka Kallijärvi; Wafaa Eyaid; Jürgen Gronau; Andrew Ignaszewski; Deborah McFadden; Giovanni Sorge; Marita Lipsanen-Nyman; Anna-Elina Lehesjoki
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Human mutation 2004;23(5):522.
2003: Simeon Boyd; Cristina M Justice; Wafaa Eyaid; Victor A McKusick; Ralph S Lachman; Arnab B Chowdry; Monzer Jabak; Johan Zwaan; Alexander F Wilson; Ethylin Jabs
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.
Human genetics 2003;113(1):1-9.
2000: Reza Yaghmai; A Kimyai-Asadi; K Rostamiani; N S Heiss; A Poustka; Wafaa Eyaid; J Bodurtha; H C Nousari; Ada Hamosh; A Metzenberg
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
The Journal of pediatrics 2000;136(3):390-3.