Search Results - "Dardas, Zain"

P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits by Duan, Ruizhi, Du, Haowei, Dardas, Zain, Lupski, James

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Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism by Chander, Varuna, Mahmoud, Medhat, Hu, Jianhong, Dardas, Zain, Grochowski, Christopher M., Dawood, Moez, Khayat, Michael M., Li, He, Li, Shoudong, Jhangiani, Shalini, Korchina, Viktoriya, Shen, Hua, Weissenberger, George, Meng, Qingchang, Gingras, Marie‐Claude, Muzny, Donna M., Doddapaneni, Harsha, Posey, Jennifer E., Lupski, James R., Sabo, Aniko, Murdock, David R., Sedlazeck, Fritz J., Gibbs, Richard A.

“…Xia‐Gibbs syndrome (XGS; MIM# 615829) is a rare mendelian disorder characterized by Development Delay (DD), intellectual disability (ID), and hypotonia…”
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Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia by Altamimi, Eyad, Rabab’h, Omar, Aburizeg, Dunia, Akasheh, Lynn, Dardas, Zain, Srour, Luma, Awad, Heyam, Azab, Bilal

“…Biliary atresia (BA) is a progressive inflammatory process of the biliary tree resulting in biliary obstruction. No single known genetic or environmental…”
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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 Dardas, Zain, Fatih, Jawid M, Jolly, Angad, Dawood, Moez, Du, Haowei, Grochowski, Christopher M, Jones, Edward G, Jhangiani, Shalini N, Wehrens, Xander H T, Liu, Pengfei, Bi, Weimin, Boerwinkle, Eric, Posey, Jennifer E, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Coban-Akdemir, Zeynep, Morris, Shaine A

“…NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the…”
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Genotoxicity of cisplatin and carboplatin in cultured human lymphocytes: a comparative study by Azab, Belal, Alassaf, Anood, Abu-Humdan, Abdulrahman, Dardas, Zain, Almousa, Hashem, Alsalem, Mohammad, Khabour, Omar, Hammad, Hana, Saleh, Tareq, Awidi, Abdalla

“…Cisplatin and carboplatin are integral parts of many antineoplastic management regimens. Both platinum analogues are potent DNA alkylating agents that robustly…”
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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies by Azab, Bilal, Dardas, Zain, Aburizeg, Dunia, Al-Bdour, Muawyah, Abu-Ameerh, Mohammed, Saleh, Tareq, Barham, Raghda, Maswadi, Ranad, Ababneh, Nidaa A, Alsalem, Mohammad, Zouk, Hana, Amr, Sami, Awidi, Abdalla

“…Whole Exome Sequencing (WES) is a powerful approach for detecting sequence variations in the human genome. The aim of this study was to investigate the genetic…”
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SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management by Tawalbeh, Mohamed, Aburizeg, Dunia, Abu Alragheb, Bayan O, Alaqrabawi, Wala Sami, Dardas, Zain, Srour, Luma, Altarayra, Baraah Hatem, Zayed, Ayman A, El Omari, Zaid, Azab, Bilal

“…is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome…”
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Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study by Azab, Bilal, Rabab’h, Omar, Aburizeg, Dunia, Mohammad, Hashim, Dardas, Zain, Mustafa, Lina, Khasawneh, Ruba A., Awad, Heyam, Hatmal, Ma’mon M., Altamimi, Eyad

“…Niemann–Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of…”
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Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases by Altamimi, Eyad, Khanfar, Mariam, Rabab'h, Omar, Dardas, Zain, Srour, Luma, Mustafa, Lina, Azab, Bilal

“…Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency…”
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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 Abu‐Ameerh, Mohammed, Mohammad, Hashim, Dardas, Zain, Barham, Raghda, Ali, Dema, Bijawi, Maysa, Tawalbeh, Mohamed, Amr, Sami, Hatmal, Ma'mon M., Al‐Bdour, Muawyah, Awidi, Abdalla, Azab, Belal

“…Background Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause…”
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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

“…Mucopolysaccharidosis type I (MPS I) is an autosomal recessive storage disorder that result as a consequence of a deficiency in the lysosomal hydrolase,…”
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Beyond the exome: What’s next in diagnostic testing for Mendelian conditions by Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O'Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.

“…Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian…”
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The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families by Dardas, Zain, Swedan, Samer, Al-Sheikh Qassem, Ahmad, Azab, Belal

“…Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic…”
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data by Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

“…Abstract Homozygous duplications contribute to genetic disease by altering gene dosage or disrupting gene regulation and can be more deleterious to organismal…”
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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32 by Dardas, Zain, Marafi, Dana, Duan, Ruizhi, Fatih, Jawid M, El-Rashidy, Omnia F, Grochowski, Christopher M, Carvalho, Claudia M B, Jhangiani, Shalini N, Bi, Weimin, Du, Haowei, Gibbs, Richard A, Posey, Jennifer E, Calame, Daniel G, Zaki, Maha S, Lupski, James R

“…Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female…”
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Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees by Al-Bdour, Muawyah, Pauleck, Svenja, Dardas, Zain, Barham, Raghda, Ali, Dema, Amr, Sami, Mustafa, Lina, Abu-Ameerh, Mohammed, Maswadi, Ranad, Azab, Belal, Awidi, Abdalla

“…The aim of this study is to identify disease-causing variants in five consanguineous Jordanian families with a history of autosomal recessive retinitis…”
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ISLC26A4/I Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management by Tawalbeh, Mohamed, Aburizeg, Dunia, Abu Alragheb, Bayan O, Alaqrabawi, Wala Sami, Dardas, Zain, Srour, Luma, Altarayra, Baraah Hatem, Zayed, Ayman A, El Omari, Zaid, Azab, Bilal

“…SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred…”
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Enteric anendocrinosis attributable to a novel Neurogenin-3 variant by Azab, Belal, Dardas, Zain, Rabab'h, Omar, Srour, Luma, Telfah, Hussam, Hatmal, Ma'mon M., Mustafa, Lina, Rashdan, Lana, Altamimi, Eyad

“…Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric…”
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Potential Composite Digenic Contribution of INPC1/I and INOD2/I Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study by Azab, Bilal, Rabab?h, Omar, Aburizeg, Dunia, Mohammad, Hashim, Dardas, Zain, Mustafa, Lina, Khasawneh, Ruba A, Awad, Heyam, Hatmal, Ma?mon M, Altamimi, Eyad

“…Niemann–Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of…”
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Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies by Azab, Belal, Barham, Raghda, Ali, Dema, Dardas, Zain, Rashdan, Lana, Bijawi, Maysa, Maswadi, Ranad, Awidi, Abdelhalim, Jafar, Hanan, Abu-Ameerh, Mohammed, Al-Bdour, Muawyah, Amr, Sami, Awidi, Abdalla

“…To identify the disease-causing variants in 2 families with autosomal recessive inherited retinal dystrophies (IRDs) and to characterize phenotypic variability…”
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