Javeria Raza Alvi

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Shereen G. Ghosh, Sangmoon Lee, Rudy Fabunan et al. · Genetics in Medicine · 2020 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Zheng Yie Yap, Stéphanie Efthymiou, Simone Seiffert et al. · The American Journal of Human Genetics · 2021 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi et al. · Genetics in Medicine · 2021 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin et al. · Brain · 2023 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Jai Sidpra, Sniya Sudhakar, Asthik Biswas et al. · Brain · 2024 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17