Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development von Mazen, Inas, Mekkawy, Mona, Kamel, Alaa, Essawi, Mona, Hassan, Heba, Abdel‐Hamid, Mohamed, Amr, Khalda, Soliman, Hala, El‐Ruby, Mona, Torky, Ahmed, El Gammal, Mona, Elaidy, Aya, Bashamboo, Anu, McElreavey, Kenneth

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Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum von Zaki, Maha S., Otaify, Ghada A., Ismail, Samira, Issa, Mahmoud Y., El‐Ruby, Mona O., Sadek, Abdelrahim A., Ashaat, Engy A., El Saeidi, Sonia A., Aglan, Mona S., Temtamy, Samia, Abdel‐Hamid, Mohamed S.

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Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case-control study including meta-analysis based on 147 cases and 143 controls von Esmaiel, Nora N, Ashaat, Engy A, Al-Ettribi, Ghada M, Fayez, Alaaeldin, Alsaiedi, Sonia A, El Ruby, Mona O

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Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations von Elhossini, Rasha Moheb, Abdel‐Hamid, Mohamed S., Ashaat, Engy, Otaify, Ghada A., Dawoud, Heba, Elshimy, Khalid, El Ruby, Mona, Aglan, Mona

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Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature von Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.

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Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type‐2 von El‐Ruby, Mona, El‐Din Fayez, Alaa, El‐Dessouky, Sara H., Aglan, Mona S., Mazen, Inas, Ismail, Nora, Afifi, Hanan H., Eid, Maha M., Mostafa, Mostafa I., Mehrez, Mennat I., Khalil, Yasmin, Zaki, Maha S., Gaber, Khaled R., Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H.

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Correlating SFTPC gene variants to interstitial lung disease in Egyptian children von Abdel Megeid, Azza K, Refeat, Miral M, Ashaat, Engy A, El-Kamah, Ghada, El-Saiedi, Sonia A, Elfalaki, Mona M, El Ruby, Mona O

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Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children von Abdel Megeid, Azza K, Refeat, Miral M, Ashaat, Engy A, El-Kamah, Ghada, El-Saiedi, Sonia A, Elfalaki, Mona M, El Ruby, Mona O

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A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis von Abdel Kader, Mohamed, El Zanaty, Taher, Esmaiel, Nora Nassef, Aglan, Mona, Fayez, Alaaeldin, El Ruby, Mona

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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly von Mohamed, Amal M., Kamel, Alaa K., Eid, Maha M., Eid, Ola M., Mekkawy, Mona, Hussein, Shymaa H., Zaki, Maha S., Esmail, Samira, Afifi, Hanan H., El‐Kamah, Ghada Y., Otaify, Ghada A., El‐Awady, Heba Ahmed, Elaidy, Aya, Essa, Mahmoud Y., El‐Ruby, Mona, Ashaat, Engy A., Hammad, Saida A., Mazen, Inas, Abdel‐Salam, Ghada M. H., Aglan, Mona, Temtamy, Samia

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miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian pat... von Fayez, Alaaeldin G., Esmaiel, Nora N., Salem, Sohair M., Ashaat, Engy A., El-Saiedi, Sonia A., El Ruby, Mona O.

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New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects von Fayez, Alaaeldin G., Esmaiel, Nora N., Ashaat, Engy A., Refeat, Miral M., Lotfy, Randa S., Raouf, Haiam Abdel, El Ruby, Mona O.

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery von Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G

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Williams–Beuren syndrome in diverse populations von Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

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Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype von Abdel‐Salam, Ghada M. H., Flores‐Sarnat, Laura, El‐Ruby, Mona O., Parboosingh, Jillian, Bridge, Peter, Eid, Maha M., El‐Badry, Tarek H., Effat, Laila, Curatolo, Paolo, Temtamy, Samia A.

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First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations von Thomas, Manal M., Ashaat, Engy A., Otaify, Ghada A., Ismail, Samira, Essawi, Mona L., Abdel-Hamid, Mohamed S., Hassan, Heba A., Alsaiedi, Sonia A., Aglan, Mona, El Ruby, Mona O., Temtamy, Samia

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Turner syndrome in diverse populations von Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa, Nampoothiri, Sheela, Yesodharan, Dhanya, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Goh, Jasmine Chew‐Yin, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda C., Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Oyenusi, Elizabeth Eberechi, Olopade, Oluwarotimi Bolaji, Fasanmade, Olufemi Adetola, Duenas‐Roque, Milagros M., Thong, Meow‐Keong, Tung, Joanna Y. L., Mok, Gary T. K., Fleischer, Nicole, Rwegerera, Godfrey M., Herreros, María Beatriz, Watts, Johnathan, Fieggen, Karen, Huckstadt, Victoria, Moresco, Angélica, Obregon, María Gabriela, Hussen, Dalia Farouk, Ashaat, Neveen A., Ashaat, Engy A., Chung, Brian H. Y., Badoe, Eben, Faradz, Sultana M. H., El Ruby, Mona O., Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Phadke, Shubha R., Richieri‐Costa, Antonio, Muenke, Maximilian

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Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation von Hussen, Dalia F., Kamel, Alaa K., Mekkawy, Mona K., Ashaat, Engy A., El Ruby, Mona O.

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Phenotypic characterization of rare interstitial deletion of chromosome 4 von Ismail, Samira, Helmy, Nivine A., Mahmoud, Wael M., El-Ruby, Mona O.

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Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD) von Mekkawy, Mona, Kamel, Alaa, El-Ruby, Mona, Mohamed, Amal, Essawi, Mona, Soliman, Hala, Dessouky, Nabil, Shehab, Marwa, Mazen, Inas

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