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

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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

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<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

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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

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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

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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

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