P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits

by Ruizhi Duan, Haowei Du, Zain Dardas, James Lupski
Published 2024-01-01

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

by Belal Azab, Zain Dardas, Mohannad Hamarsheh, Mohammad Alsalem, Zaid Kilani, Farah Kilani, Abdalla Awidi, Hanan Jafar, Sami Amr
Published 2017-09-01

Potential Composite Digenic Contribution of <i>NPC1</i> and <i>NOD2</i> Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phen...

by Bilal Azab, Omar Rabab’h, Dunia Aburizeg, Hashim Mohammad, Zain Dardas, Lina Mustafa, Ruba A. Khasawneh, Heyam Awad, Ma’mon M. Hatmal, Eyad Altamimi
Published 2022-05-01

<i>SLC26A4</i> Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

by Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. Zayed, Zaid El Omari, Bilal Azab
Published 2022-11-01

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

by Mohammed Abu‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Amr, Ma'mon M. Hatmal, Muawyah Al‐Bdour, Abdalla Awidi, Belal Azab
Published 2020-03-01

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

by Bilal Azab, Zain Dardas, Dunia Aburizeg, Muawyah Al-Bdour, Mohammed Abu-Ameerh, Tareq Saleh, Raghda Barham, Ranad Maswadi, Nidaa A Ababneh, Mohammad Alsalem, Hana Zouk, Sami Amr, Abdalla Awidi
Published 2021-04-01

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

by Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H. T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Zeynep Coban-Akdemir, Shaine A. Morris
Published 2024-04-01

Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree

by Azab, Belal, Dardas, Zain, Hamarsheh, Mohannad, Alsalem, Mohammad, Kilani, Zaid, Kilani, Farah, Awidi, Abdalla, Jafar, Hanan, Amr, Sami
Published 2017