Journal of Biochemical and Clinical Genetics

Aims & Scope

A warm welcome to the Journal of Biochemical and Clinical Genetics! We're thrilled to share cutting-edge research, innovative discoveries, and expert insights in Genetics field with you. Our journal is dedicated to advancing the fields of biochemical and clinical genetics, fostering collaboration, and promoting scientific excellence. We invite you to explore our latest articles, reviews, and research papers, and novel case reports . Let's unravel the complexities of genetics and genomics together, driving progress and improving human health. Thank you for being part of our scientific community!" Breaking Discovery: NAV3 Gene Linked to a Novel Neurodevelopmental Disorder (NEDUA) – OMIM #621182 We are pleased to share a significant milestone in the field of neurogenetics. The Editor in Chief of the Journal of Biochemical and Clinical Genetics, Prof. Majid Alfadhel, along with his team, has recently identified a novel gene-disease association involving NAV3, which has now been officially recognized by OMIM as “Umair-Alfadhel Neurodevelopmental Disorder (NEDUA)” [OMIM #621182] — named in honor of Dr. Muhammad Umair (Editorial Board Member) and Prof. Majid Alfadhel (Editor in Chief) for their pioneering contribution.Key Findings:Gene: NAV3 (Neuron Navigator 3), crucial for neuronal morphogenesis and axonal guidance.Clinical Features: Patients present with global developmental delay, poor or absent speech, dysmorphic facies, microcephaly, hypotonia, and additional neurodevelopmental features.Inheritance: Autosomal recessive, with both homozygous and compound heterozygous variants identified in affected families.Impact: This discovery provides much-needed answers for families worldwide and opens new avenues for research into targeted therapies and genetic counseling.Read More:• OMIM #621182• Umair et al., 2024 [PubMed: 39038237]This achievement notably marks the second time where a disease has been named after Prof. Alfadhel, following the recognition of Alfadhel Syndrome,

A twelfth criterion — whether APC fees are clearly disclosed — is not scored here; it is left out of the total rather than counted as a failure. Publication charges appear in the metrics card above.

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Source: OpenAlex · Each year’s green bar = citations earned by that year’s papers, counted to date — so recent years look lower simply because their papers haven’t had time to be cited yet.

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