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Adila Al‐Kindi

Observed names: Adila Al-Kindi, Adila AlKindi, Adila Alkindi
OpenAlex ID: A5000197487
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits
2018 · Maryam Al‐Nabhani, Samiya Al‐Rashdi, et al. · Clinical Genetics · 71
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
2022 · Ghalia Al-Kasbi, Fathiya Al-Murshedi, et al. · Scientific Reports · 37
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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
2018 · Carine Bonnard, Mohammad Shboul, et al. · European Journal of Medical Genetics · 37
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
2019 · Ranad Shaheen, Paul Mark, et al. · Human Mutation · 36
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A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
2014 · Adila Al-Kindi, Praseetha Kizhakkedath, et al. · BMC Medical Genetics · 32
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The Phenotypic Spectrum of Baraitser-Winter Syndrome: A New Case and Review of Literature
2005 · Anuradha Ganesh, Adila Al-Kindi, et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 19
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans
2020 · Mohammed Zain Seidahmed, Adila Al-Kindi, et al. · Human Genetics · 18
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
2019 · Adila Al-Kindi, Maryam Al-Shehhi, et al. · Journal of Human Genetics · 12
Further phenotypic delineation of Alazami syndrome
2022 · Abdulhamid Al‐Hinai, Samiya Al‐Hashmi, et al. · American Journal of Medical Genetics Part A · 11
New Ocular Associations in Sanjad-Sakati Syndrome : Case report from Oman
2014 · Agha S. Haider, Anuradha Ganesh, et al. · Sultan Qaboos University medical journal · 10
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Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis
2021 · Bushra Al-Shamsi, Ghalia Al-Kasbi, et al. · European Journal of Medical Genetics · 8
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
2024 · Lettie E. Rawlins, Reza Maroofian, et al. · Genetics in Medicine · 7
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Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
2023 · Franziska Schnabel, Elisabeth Schuler, et al. · Human Genetics · 5
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Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype
2026 · Fakhriya Al‐Azri, Maryam Al‐Rashdi, et al. · Clinical Genetics
Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemihyperplasia at Sultan Qaboos University Hospital with their Surveillance Outcomes
2024 · Ayat Sulayiam Al-Hinai, Almundher Al-Maawali, et al. · Oman Medical Journal
Disease relevance of alternative splicing
2019 · Adila Al‐Kindi, Arndt Rolfs, et al.
A Patient with a Novel Homozygous Mutation in IGF1-R Gene and Response to Growth Hormone Therapy
2019 · Al Shidhani Azza Nasser, Adila Al‐Kindi, et al. · 58th Annual ESPE Meeting (ESPE 2019)
Works count: 18
Citation count: 303
H-index: 10
I10-index: 10
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