Publications by authors named "Ghada Otaify"

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Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.
Ayat Sulayiam Al-Hinai, Almundher Al-Maawali, Adila Al-Kindi, Abeer Al-Saegh, Khalid Al-Thihli, Ghada A Otaify

Oman Med J· January 2025

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Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Ghada Otaify

J Med Genet· June 2024

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Psoriasiform Skin Lesions and Dental Abnormalities.
Huda Al Maqbali, Ghada Otaify, Ali Al-Mullahi, Buthaina Al Musalhi

Oman Med J· May 2024

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CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Ghada A Otaify, Rasha M Elhossini, Sherif F Abdel-Ghafar, Inas M Sayed, Ghada M H Abdel-Salam

Am J Med Genet A· August 2023

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Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.
Ghada A Otaify, Wafa Al Baluki, Samiya Al-Rashdi, Almundher Al-Maawali

Eur J Med Genet· December 2022

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Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A Otaify, Rasha Elhossini

Am J Hum Genet· October 2022

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A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
Rasha Moheb Elhossini, Hoda Abdalla Ahmed, Ghada Otaify, Raghda M Ghorab, Khalda Amr

Am J Med Genet A· October 2022

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Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.
Mohamed S Abdel-Hamid, Rasha M Elhossini, Ghada A Otaify, Sherif F Abdel-Ghafar, Mona S Aglan

Osteoporos Int· July 2022

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Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
Ghada A Otaify, Mohamed S Abdel-Hamid, Nehal F Hassib, Rasha M Elhossini, Sherif F Abdel-Ghafar

Am J Med Genet A· June 2022

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Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Rasha Moheb Elhossini, Mohamed S Abdel-Hamid, Engy Ashaat, Ghada A Otaify, Heba Dawoud

Congenit Anom (Kyoto)· March 2022

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Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Rabab Khairat, Rasha Elhossini, Nara Sobreira, Elizabeth Wohler, Ghada Otaify

Eur J Med Genet· January 2022

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Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Amal M Mohamed, Alaa K Kamel, Maha M Eid, Ola M Eid, Mona Mekkawy, Ghada A Otaify

Mol Genet Genomic Med· November 2021

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3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.
Erika Kague, Francesco Turci, Elis Newman, Yushi Yang, Kate Robson Brown, Ghada A Otaify

Bone Res· August 2021

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First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous Mutations.
Manal M Thomas, Engy A Ashaat, Ghada A Otaify, Samira Ismail, Mona L Essawi

Mol Syndromol· August 2021

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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Denise Horn, Elisa Fernández-Núñez, Ricardo Gomez-Carmona, Ana Rivera-Barahona, Julian Nevado, Ghada A Otaify

Genet Med· April 2021

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Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Maha S Zaki, Ghada A Otaify, Samira Ismail, Mahmoud Y Issa, Mona O El-Ruby

Am J Med Genet A· December 2020

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Adrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Ghada A Otaify

Am J Hum Genet· November 2020

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Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, Patricia Soto-Bielicka, Antonio Torres, Ghada A Otaify

Hum Mutat· January 2020

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Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.
Roberta Besio, Nadia Garibaldi, Laura Leoni, Lina Cipolla, Simone Sabbioneda, Ghada A Otaify

Dis Model Mech· June 2019

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Genomic and phenotypic delineation of congenital microcephaly.
Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M H Abdel-Salam, Ghada Otaify

Genet Med· March 2019

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GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Mohamed S Abdel-Hamid, Samira Ismail, Maha S Zaki, Ghada M H Abdel-Salam, Ghada A Otaify

Am J Med Genet A· February 2019

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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
María Cristina Estañ, Elisa Fernández-Núñez, Maha S Zaki, María Isabel Esteban, Sandra Donkervoort, Ghada A Otaify

Nat Commun· February 2019

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Expanding the phenome and variome of skeletal dysplasia.
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Ghada A Otaify

Genet Med· December 2018

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mutations are responsible for autosomal recessive osteogenesis imperfecta.
Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Ghada A Otaify

J Med Genet· April 2018

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Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).
Ghada A Otaify, Michael P Whyte, Gary S Gottesman, William H McAlister, J Eric Gordon

Bone· February 2018

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