Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Cited by (387)

Items 101–200 of 387

1. A draft UAE-based Arab pangenome reference
   Nasna Nassir, Mohamed A. Almarri, Muhammad Kumail, Nesrin Mohamed, Bipin Balan, Shehzad Hanif, Maryam AlObathani, Bassam Adnan Jamalalail, Hanan Abdelhalim ElSokary, Dasuki Kondaramage et al. · 2025 · Nature Communications
2. Utility of clinical exome sequencing in a complex Emirati pediatric cohort
   Nour Abu Mahfouz, Praseetha Kizhakkedath, Alia Ibrahim, Maha El Naofal, Sathishkumar Ramaswamy, Divinlal Harilal, Yasmeen Qutub, Mohammed J. Uddin, Alan Taylor, Zeinab Alloub et al. · 2020 · Computational and Structural Biotechnology Journal
3. Multi‐Omics Studies in Historically Excluded Populations: The Road to Equity
   Guang Yang, Mrinal Mishra, Minoli A. Perera · 2022 · Clinical Pharmacology & Therapeutics
4. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant
   Alina Kurolap, Orly Eshach Adiv, Liza Konnikova, Lael Werner, Claudia G. Gonzaga-Jauregui, Maya Steinberg, Vanessa Mitsialis, Adi Mory, Moran Y. Nunberg, Sarah M. Wall et al. · 2019 · Journal of Clinical Immunology
5. How understudied populations have contributed to our understanding of Alzheimer’s disease genetics
   Nadia Dehghani, José Brás, Rita João Guerreiro · 2021 · Brain
6. Burden of Mendelian disorders in a large Middle Eastern biobank
   Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, ELBAY E. ALIYEV, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy et al. · 2024 · Genome Medicine
7. Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations
   Mohammad Vafaee‐Shahi, Mohammad Reza Farhadi, Ehsan Razmara, Saeid Morovvati, Saeide Ghasemi, Seyedeh Sedigheh Abedini, Zohreh Bagher, Rafieh Alizadeh, Masoumeh Falah · 2021 · Irish Journal of Medical Science (1971 -)
8. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
   Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi et al. · 2023 · Acta Neuropathologica
9. The Effect of Consanguinity on Between-Individual Identity-by-Descent Sharing
   Alissa L. Severson, Shai Carmi, Noah A. Rosenberg · 2019 · Genetics
10. The genomic landscape of pediatric rheumatology disorders in the Middle East
    Basil M. Fathalla, Ali Alsarhan, Samina Afzal, Maha El Naofal, Ahmad N. Abou Tayoun · 2021 · Human Mutation
11. Genomic landscape of the Greater Middle East
    Tayfun Özçelık, Onur Emre Onat · 2016 · Nature Genetics
12. From Genomes to Genomic Medicine: Enabling Personalized and Precision Medicine in the Middle East
    Puthen Veettil Jithesh, Vinod Scaria · 2017 · Personalized Medicine
13. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment
    Isabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, Abid Jan, Abdul Nasır, Shabir Hussain, Deborah A. Nickerson, Michael J. Bamshad, Asmat Ullah, Wasim Ahmad et al. · 2018 · Human Genetics
14. Recessive MYH7-related myopathy in two families
    Sarah J. Beecroft, Martijn van de Locht, Josine Marieke de Winter, Coen A. C. Ottenheijm, Caroline A. Sewry, Shehla N. Mohammed, Monique M. Ryan, Ian R. Woodcock, Lauren Sanders, Rebecca Gooding et al. · 2019 · Neuromuscular Disorders
15. Methods for Assessing Population Relationships and History Using Genomic Data
    Priya Moorjani, Garrett Hellenthal · 2023 · Annual Review of Genomics and Human Genetics
16. Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes
    Zied Landoulsi, Fatma Laatar, Eric Noé, Saloua Mrabet, Mouna Ben Djebara, Guillaume Achaz, Caroline Nava, Stéphanie Baulac, Imen Kacem, Amina Gargouri et al. · 2018 · Neurogenetics
17. <scp><i>TSPEAR</i></scp> variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
    Bowles, Bradley, Ferrer, Alejandro, Nishimura, Carla J., Pinto e Vairo, Filippo, Rey, Tristan, Leheup, Bruno, Sullivan, Jennifer, Schoch, Kelly, Stong, Nicholas, Agolini, Emanuele et al. · 2021 · American Journal of Medical Genetics Part A
18. Human leukocyte antigen class II gene diversity tunes antibody repertoires to common pathogens
    Taushif Khan, Mahbuba Rahman, Ikhlak Ahmed, Fatima Al Ali, Puthen Veettil Jithesh, Nico Marr · 2022 · Frontiers in Immunology
19. A homozygous NOP14 variant is likely to cause recurrent pregnancy loss
    Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina, Eriko Koshimizu, Atsushi Fujita, Futoshi Sekiguchi, Satoko Miyatake, Takeshi Mizuguchi et al. · 2018 · Journal of Human Genetics
20. Pharmacogenomic survey of Qatari populations using whole-genome and exome sequences
    Ambily Sivadas, Vinod Scaria · 2018 · The Pharmacogenomics Journal
21. Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population
    Prashantha Hebbar, Jehad Ahmed Abubaker, Mohamed Abu‐Farha, Osama A Alsmadi, Naser B. Elkum, Fadi Alkayal, Sumi Elsa John, Arshad Mohamed Channanath, Rasheeba Iqbal, Janne M. Pitkäniemi et al. · 2020 · Human Genetics
22. CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs
    Leonardo Murgiano, Doreen Becker, Courtney Spector, Kendall Carlin, Evelyn Santana, Jessica K. Niggel, Vidhya Jagannathan, Tosso Leeb, Sue Pearce‐Kelling, Geoffrey K. Aguirre et al. · 2020 · Scientific Reports
23. Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank
    Antonella De Lillo, Salvatore D’Antona, Gita A. Pathak, Frank R. Wendt, Flavio De Angelis, Maria Fuciarelli, Renato A Polimanti · 2021 · Human Molecular Genetics
24. Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
    Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Abolfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparır et al. · 2021 · Human Genetics
25. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
    Mauro Lecca, Davut Pehli̇van, Damián Heine‐Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial‐Farran, Vittorio Rosti, Maria Paola Bonasoni et al. · 2023 · The American Journal of Human Genetics
26. Genetics of Inborn Errors of Immunity in highly consanguineous Middle Eastern and North African populations
    Hamoud Al‐Mousa, Mohamed‐Ridha Barbouche · 2023 · Seminars in Immunology
27. Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database
    Sami Bizzari, Pratibha Nair, Sayeeda Hana, Asha Deepthi, Mahmoud Taleb Al‐Ali, Lihadh Al‐Gazali, Stephany El‐Hayek · 2023 · Frontiers in Genetics
28. A Perception on Genome-Wide Genetic Analysis of Metabolic Traits in Arab Populations
    Prashantha Hebbar, Jehad Ahmed Abubaker, Mohamed Abu‐Farha, Jaakko Tuomilehto, Fahd Al‐Mulla, Thangavel Alphonse Thanaraj · 2019 · Frontiers in Endocrinology
29. Arab founder variants: Contributions to clinical genomics and precision medicine
    Lama AlAbdi, Sateesh Maddirevula, Bayan Mohammed Aljamal, Halima Hamid, Aisha Almulhim, Mais O. Hashem, Yusra Algoos, Mashael F. Alqahtani, Shahad Albaloshi, Mohammed Abdualrhman Alghamdi et al. · 2024 · Med
30. Biogeographical ancestry, variable selection, and PLS-DA method: a new panel to assess ancestry in forensic samples via MPS technology
    Elena Pilli, Stefania Morelli, Brando Poggiali, Eugenio Alladio · 2022 · Forensic Science International Genetics
31. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
    Nuriye Dinçkan, Renqian Du, Zeynep Coban‐Akdemir, Yavuz Bayram, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna Marie Muzny, Yeliz Güven, Oya Aktören et al. · 2018 · American Journal of Medical Genetics Part A
32. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma
    Isabelle Schrauwen, Béla Melegh, Imen Chakchouk, Anushree Acharya, Abdul Nasır, Alexis Poston, Diana M. Cornejo-Sanchez, Zsolt Roland Szabó, Tamás Karosi, Judit Bene et al. · 2019 · European Journal of Human Genetics
33. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
    Shereen Georges Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour et al. · 2020 · European Journal of Human Genetics
34. The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
    Ashlesha Gogate, Kiran J. Kaur, Raida Khalil, Mahmoud Ahmad Bashtawi, Mary Ann Morris, Kimberly Goodspeed, Patricia Evans, Maria H. Chahrour · 2024 · npj Genomic Medicine
35. Genomics of rare diseases in the Greater Middle East
    Ikram Chekroun, Shruti Shenbagam, Mohamed A. Almarri, Younes Mokrab, Mohammed J. Uddin, Omer S. Alkhnbashi, Maha Saad Zaki, Hossein Najmabadi, Kimia Kahrizi, Khalid Adnan Fakhro et al. · 2025 · Nature Genetics
36. Endogenous Retrovirus RNA Expression Differences between Race, Stage and HPV Status Offer Improved Prognostication among Women with Cervical Cancer
    Jill K. Alldredge, Vinay Kumar, James Nguyen, Brooke E. Sanders, Karina E. Gomez, Kay Jayachandran, Jin Zhang, Julie Kristina Schwarz, Farah B. Rahmatpanah · 2023 · International Journal of Molecular Sciences
37. Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
    Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor et al. · 2024 · npj Genomic Medicine
38. Landscape of pharmacogenetic variants associated with non-insulin antidiabetic drugs in the Indian population
    Ambily Sivadas, Soumitra Sahana, Bani Jolly, Rahul C. Bhoyar, Abhinav K. Jain, Disha Sharma, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra et al. · 2024 · BMJ Open Diabetes Research & Care
39. Uner Tan syndrome caused by a homozygousTUBB2Bmutation affecting microtubule stability
    Martin W. Breuss, Thai B. Nguyen, Anjana Srivatsan, Ines Leca, Guoling Tian, Tanja Fritz, Andi H. Hansen, Damir Musaev, Jennifer McEvoy‐Venneri, Kiely N. James et al. · 2016 · Human Molecular Genetics
40. Genetic Diversity and Low Stratification of the Population of the United Arab Emirates
    Guan K. Tay, Andreas Henschel, Gihan Daw Elbait, Habiba S. AlSafar · 2020 · Frontiers in Genetics
41. Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency
    Samantha Shafer, Yikun Yao, William A. Comrie, Sarah A. Cook, Yu Zhang, Gözde Yeşil, Elif Karakoç-Aydıner, Safa Barış, Haluk Cezmi Çokuğraş, Sezin Aydemir et al. · 2021 · Journal of Allergy and Clinical Immunology
42. GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia
    Holger Hengel, Reinhard Keimer, Werner Deigendesch, Angelika Rieß, Hiyam Marzouqa, Jimmy Zaidan, Peter Bauer, Ludger J. Schöls · 2018 · Clinical Genetics
43. Founder mutations and rare disease in the Arab world
    Dana Marafi · 2024 · Disease Models & Mechanisms
44. Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
    NOOR BADSHAH, Kari A. Mattison, Sohail Ahmad, Pankaj Chopra, H. Richard Johnston, Shakoor Ahmad, Sher Hayat Khan, Muhammad Tahir Sarwar, David J. Cutler, Micheal Taylor et al. · 2022 · Frontiers in Neurology
45. Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
    Julia Doll, Barbara Vona, Linda Schnapp, Franz Rüschendorf, Imran Khan, Saadullah Khan, Noor Muhammad, Sher Alam Khan, Hamed Nawaz, Ajmal Khan et al. · 2020 · Genes
46. Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome
    Sathishkumar Ramaswamy, Ruchi Jain, Maha El Naofal, Nour Halabi, Sawsan Yaslam, Alan Taylor, Ahmad N. Abou Tayoun · 2022 · Journal of Personalized Medicine
47. Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
    Sarah Okashah, Dhanya Vasudeva, Aya El Jerbi, Houssein Khodjet‐El‐Khil, Mashael Nedham Al-Shafai, Najeeb Syed, Marios Kambouris, Sharda Udassi, Luís R. Saraiva, Hesham Al-Saloos et al. · 2022 · Genes
48. Helper T cell immunity in humans with inherited CD4 deficiency
    Antoine Guérin, Marcela Moncada‐Vélez, Katherine Jackson, Masato Ogishi, Jérémie Rosain, Mathieu Mancini, David Langlais, Andrea C. Nunez, Samantha Webster, Jesse Goyette et al. · 2024 · The Journal of Experimental Medicine
49. Variation and Functional Impact of Neanderthal Ancestry in Western Asia
    Recep Özgür Taşkent, Duha Alioğlu, Evrim Fer, Handan Melike Dönertaş, Mehmet Somel, Ömer Gökçümen · 2017 · Genome Biology and Evolution
50. Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family
    Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew McKnight Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf et al. · 2017 · Molecular Syndromology
51. The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders
    Sarah J. Beecroft, Phillipa J. Lamont, Samantha Edwards, Hayley Goullée, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft · 2020 · Molecular Diagnosis & Therapy
52. Population-scale genomics—Enabling precision public health
    Ambily Sivadas, Vinod Scaria · 2018 · Advances in genetics
53. Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
    Julia Doll, Susanne M. Kolb, Linda Schnapp, Abolfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli, Atefeh Hasanzadeh, Daniel Liedtke, Sabine Knaup et al. · 2020 · International Journal of Molecular Sciences
54. Human LY9 governs CD4 + T cell IFN-γ immunity to Mycobacterium tuberculosis
    Masato Ogishi, Julia Puchan, Rui Yang, Andrés Augusto Arias, Ji Eun Han, Tina Nguyen, Rebeca Gutiérrez-Cózar, Clément Conil, Yoann Seeleuthner, Darawan Rinchai et al. · 2025 · Science Immunology
55. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
    Luisa Averdunk, Heinrich Sticht, Harald Surowy, Hermann‐Josef Lüdecke, Margarete Koch‐Hogrebe, Hessa S. Alsaif, Kimia Kahrizi, Hamad Alzaidan, Bashayer S. Alawam, Mohamed Tohary et al. · 2021 · Journal of Molecular Medicine
56. Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia
    Raghad M. Alharthi, Muhannad A Alnahdi, Ahad Alharthi, Seba Almutairi, Sultan Al‐Khenaizan, Mohammed A. Al Balwi · 2022 · Frontiers in Genetics
57. Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region
    Christa Caggiano, Arya Boudaie, Ruhollah Shemirani, Joel Mefford, Ella Petter, Alec M. Chiu, Defne Ercelen, Rosemary He, Daniel Jacob Tward, Kimberly C. Paul et al. · 2023 · Nature Medicine
58. The genetic landscape of autism spectrum disorder in the Middle Eastern population
    Yasser A. Al-Sarraj, Rowaida Ziad Taha, Eman Al‐Dous, Dina F. Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii‬, Yosra Bejaoui et al. · 2024 · Frontiers in Genetics
59. WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease
    Aastha Vatsyayan, Mukesh Kumar, Bhaskar Jyoti Saikia, Vinod Scaria, Balachandran Krishnamma Binukumar · 2024 · PLoS ONE
60. Genome Tunisia Project: paving the way for precision medicine in North Africa
    Yosr Hamdi, Médiha Trabelsi, Kaïs Ghedira, Maroua Boujemaa, Ikhlas Ben Ayed, Chérine Charfeddine, Amal Souissi, Imen Rejeb, Wafa Kammoun Rebai, Chaima Hkimi et al. · 2024 · Genome Medicine
61. Genome‐wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1 ‐related fundus phenotype
    Arif O. Khan, Birgit Susanne Budde, Peter Nürnberg, Amit Kawalia, Steffen Lenzner, Hanno J. Bolz · 2017 · Clinical Genetics
62. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
    Shereen Georges Ghosh, Lu Wang, Martin W. Breuss, Joshua D Green, Valentina Stanley, Xiaoxu Yang, Danica Ross, Bryan J. Traynor, Amal Mohammed Alhashem, Matloob Azam et al. · 2019 · Journal of Medical Genetics
63. Genome-Wide Selection Scan in an Arabian Peninsula Population Identifies a TNKS Haplotype Linked to Metabolic Traits and Hypertension
    Muthukrishnan Eaaswarkhanth, André Luiz Campelo dos Santos, Ömer Gökçümen, Fahd Al‐Mulla, Thangavel Alphonse Thanaraj · 2020 · Genome Biology and Evolution
64. Genome-Wide Patterns of Homozygosity and Relevant Characterizations on the Population Structure in Piétrain Pigs
    Huiwen Zhan, Saixian Zhang, Kaili Zhang, Xia Peng, Shengsong Xie, Xinyun Li, Shuhong Zhao, Yunlong Ma · 2020 · Genes
65. Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease
    Noam Ben-Yosef, Matthew Frampton, Elena Schiff, Saleh Daher, Fadi Abu Baker, Rifaat Safadi, Eran Israeli, Anthony Walter Segal, Adam P. Levine · 2021 · Gastroenterology report
66. The QChip1 knowledgebase and microarray for precision medicine in Qatar
    Juan L. Rodríguez-Flores, Radja Messai Badji, Amal Robay, Ramzi Temanni, Najeeb Syed, Monika Markovic, Eiman Alkhayat, Fatima Qafoud, Zafar Nawaz, Ramin Badii et al. · 2022 · npj Genomic Medicine
67. COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
    Ranjana Mishra, Samarth Kulshrestha, Kausik Mandal, Ashok Khurana, Dan Diego‐Álvarez, Laura Pradas, Renu Saxena, Shubha Rajendra Phadke, Amita Moirangthem, Suzena Masih et al. · 2022 · American Journal of Medical Genetics Part A
68. The genetics of autism spectrum disorder in an East African familial cohort
    İslam Oğuz Tuncay, Darlene DeVries, Ashlesha Gogate, Kiran J. Kaur, Ashwani Kumar, Chao Xing, Kimberly Goodspeed, Leah Seyoum-Tesfa, Maria H. Chahrour · 2023 · Cell Genomics
69. The impact of the Turkish population variome on the genomic architecture of rare disease traits
    Zeynep Coban‐Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehli̇van, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt‐Yozgatli, Shalini N. Jhangiani et al. · 2024 · Genetics in Medicine Open
70. IFIH1 loss of function predisposes to inflammatory and SARS‐CoV ‐2‐related infectious diseases
    Rania Najm, Lemis Yavuz, Ruchi Jain, Maha El Naofal, Sathishkumar Ramaswamy, Walid Abuhammour, Tom Loney, Norbert R. Nowotny, Alawi A.A. Alsheikh-Ali, Ahmad N. Abou Tayoun et al. · 2024 · Scandinavian Journal of Immunology
71. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
    Pasquelena De Nittis, Stéphanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia Ur Rahman, Faisal Zafar et al. · 2020 · Journal of Medical Genetics
72. Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency
    Jérémie Rosain, Ayça Aslan Kıykım, Alexandre Michev, Yasemin Kendir Demirkol, Darawan Rinchai, Jessica N. Peel, Hailun Li, Süheyla Ocak, Pınar Gökmirza Özdemir, Tom Le Voyer et al. · 2024 · Journal of Clinical Immunology
73. Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation
    Caroline Lenfant, Patrick Baz, Anne Degavre, Anne Philippi, Valérie Senée, Claire Vandiedonck, Céline Derbois, Marc P Nicolino, Pierre Zalloua, Cécile Julier · 2017 · Genes
74. Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
    Jan M. Friedman, Yvonne Bombard, Bruce Carleton, Amalia M. Issa, Bartha Maria Knoppers, Sharon E. Plon, Vasiliki Nataly Rahimzadeh, Mary V. Relling, Marc S. Williams, Clara van Karnebeek et al. · 2023 · Genetics in Medicine
75. The difference in knowledge and concerns between healthcare professionals and patients about genetic-related issues: A questionnaire-based study
    Basima Abdalla Almomani, Nour A. Al‐Sawalha, Maha S. Al-Keilani, Hatem Aman · 2020 · PLoS ONE
76. Heterogeneity in biomarkers, mitogenome and genetic disorders of Arab population with special emphasis on large-scale whole-exome sequencing
    Jesu Francis Borgio · 2021 · Archives of Medical Science
77. Expression of Endogenous Retroviral RNA in Prostate Tumors has Prognostic Value and Shows Differences among Americans of African Versus European/Middle Eastern Ancestry
    Vinay Kumar, Michael McClelland, James Nguyen, Gabriela De Robles, Michael Ittmann, Patricia D. Castro, Dan Mercola, Zhenyu Jia, Farah B. Rahmatpanah · 2021 · Cancers
78. El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
    Mohammed Almannai, Dana Marafi, Ghada M. H. Abdel‐Salam, Maha Saad Zaki, Ruizhi Duan, Daniel G. Calame, Isabella Herman, Félix Lévesque, Hasnaa M. Elbendary, Ibrahim Hegazy et al. · 2022 · Clinical Genetics
79. Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients
    Nihat Buğra Ağaoğlu, Busra Unal, Connor P. Hayes, McKenzie Walker, Özden Hatırnaz Ng, Hamdi Levent Doğanay, Nisan Denizce Can, Huma Q. Rana, Arezou A. Ghazani · 2024 · Cancer Medicine
80. The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort
    Yasmine Aguib, Mona Allouba, Alaa Afify, Sarah Halawa, Mohamed El-Khatib, Marina Sous, Aya A. Galal, Eslam Abdelrahman, Nairouz Shehata, Amr El Sawy et al. · 2020 · npj Genomic Medicine
81. SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
    Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta, Giulia Soldà · 2021 · Frontiers in Genetics
82. Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay
    Willem Bosman, Kameryn M. Butler, Caitlin A. Chang, Mythily Ganapathi, Edwin Guzman, Femke Latta, Wendy K. Chung, Félix Claveríe‐Martín, Jessica M Davis, Joost G.J. Hoenderop et al. · 2024 · Clinical Kidney Journal
83. Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children
    Dina Ahmed Mehaney, Alireza Haghighi, Amira K. Embaby, Reham A. Zeyada, Rania K. Darwish, Nesrine S. Elfeel, Mohamed Abouelhoda, Sonia A. El-Saiedi, Nadida A. Gohar, Zeinab S. Seliem · 2021 · Cardiology in the Young
84. Patterns and distribution of de novo mutations in multiplex Middle Eastern families
    Muhammad Kohailan, Waleed Aamer, Najeeb Syed, SUJITHA SUBASH PADMAJEYA, Sura Hussein, Amira Sayed, Jyothi Janardhanan, Sasirekha Palaniswamy, Nady El Hajj, Ammira Al‐Shabeeb Akil et al. · 2022 · Journal of Human Genetics
85. Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability
    Maria Protasova, Т. В. Андреева, Sergey A. Klyushnikov, Sergey Nikolaevich Illarioshkin, Evgeny Ivanovich Rogaev · 2023 · International Journal of Molecular Sciences
86. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
    Allysson Allan de Farias, Kelly Nunes, Renan Barbosa Lemes, Ronald Rodrigues de Moura, Gustavo Ribeiro Fernandes, Uirá Souto Melo, Mayana Zatz, Fernando Kok, Silvana Santos · 2018 · Scientific Reports
87. The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years
    Samia Ali Temtamy · 2019 · Annual Review of Genomics and Human Genetics
88. Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians
    Michael M. Segal, Renee D. George, Peter Waltman, Ayman W. El‐Hattab, Kiely N. James, Valentina Stanley, Joseph G. Gleeson · 2020 · Orphanet Journal of Rare Diseases
89. Unraveling a fine-scale high genetic heterogeneity and recent continental connections of an Arabian Peninsula population
    Muthukrishnan Eaaswarkhanth, Ajai Kumar Pathak, Linda Ongaro, Francesco Montinaro, Prashantha Hebbar, Osama A Alsmadi, Mait Metspalu, Fahd Al‐Mulla, Thangavel Alphonse Thanaraj · 2021 · European Journal of Human Genetics
90. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
    Shereen Georges Ghosh, Martin W. Breuss, Zinayida Schlachetzki, Guoliang Chai, Danica Ross, Valentina Stanley, F.M. Sonmez, Haluk Topaloğlu, Maha Saad Zaki, Heba Hosny et al. · 2021 · European Journal of Human Genetics
91. The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family
    Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus T. Dittrich, Reza Maroofian et al. · 2018 · BMC Medical Genetics
92. Weighted likelihood inference of genomic autozygosity patterns in dense genotype data
    Alexandra Blant, Michelle Kwong, Zachary A. Szpiech, Trevor J. Pemberton · 2017 · BMC Genomics
93. EHBP1 SNPs, Their Haplotypes, and Gene–Environment Interactive Effects on Serum Lipid Levels
    Chunxiao Liu, Rui‐Xing Yin, Zong-Hu Shi, Guo‐Xiong Deng, Peng‐Fei Zheng, Bi‐Liu Wei, Yao‐Zong Guan · 2020 · ACS Omega
94. Cardiovascular Implications of Lipoprotein(a) and its Genetic Variants
    Ayman Ahmed El-Menyar, Naushad Ahmad Khan, Wael A. Almahmeed, Jassim M. S. Al Suwaidi, Hassan Ali Saoud Al-Thani · 2025 · JACC Asia
95. Whole Genome Sequencing of Four Representatives From the Admixed Population of the United Arab Emirates
    Gihan Daw Elbait, Andreas Henschel, Guan K. Tay, Habiba S. AlSafar · 2020 · Frontiers in Genetics
96. Association study of leptin receptor polymorphisms in women with obesity and their impact on protein domains: a case-control study and in silico analyses
    Meriem El Fessikh, Zouhair Elkarhat, Delphine Flatters, Anne‐Claude Camproux, Hakim Belghiti, Hassania Guerinech, Youssef Bakri, Nadia Dakka, Jamila El Baghdadi · 2022 · Journal of Biomolecular Structure and Dynamics
97. Novel candidate genes for cholesteatoma in chronic otitis media
    Nam K. Lee, Stephen P. Cass, Samuel Paul Gubbels, Helen Z. Gomez, Melissa A. Scholes, Herman Arthur Jenkins, Regie Lyn P. Santos‐Cortez · 2023 · Frontiers in Genetics
98. NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke
    Juan L. Rodríguez-Flores, Shareef Khalid, Neelroop Parikshak, Asif Rasheed, Bin Ye, Manav Kapoor, Joshua Backman, Farshid Sepehrband, Silvio Alessandro Di Gioia, Sahar Gelfman et al. · 2024 · Nature Communications
99. Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family
    Sophia Cameron‐Christie, Justin Wilde, Andrew Robert Gray, Rick M. Tankard, Melanie Bahlo, David Markie, Helen Evans, Stephen P. Robertson · 2018 · BMC Medical Genomics
100. Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies
     Regie Lyn P. Santos‐Cortez, Talitha Karisse L. Yarza, Tori C. Bootpetch, Ma. Leah C. Tantoco, Karen L. Mohlke, Teresa Luisa G. Cruz, Mary Ellen Chiong Perez, Abner L. Chan, Nanette R. Lee, Celina Ann M. Tobias-Grasso et al. · 2021 · Genes