Haluk Kavuş

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 103 citations · Full text

Medicine, Genetics, Pediatrics +17

Neurodevelopmental phenotypes associated with pathogenic variants in <i>SLC6A1</i>

Ashley Kahen, Haluk Kavuş, Alexa Geltzeiler et al. · Journal of Medical Genetics · 2021 · 28 citations

Life Sciences, Genetics, Neuroscience +17

Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>

Madison Garrity, Haluk Kavuş, Marta Rojas‐Vasquez et al. · Molecular Case Studies · 2021 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<scp>El‐Hattab‐Alkuraya</scp> syndrome caused by biallelic <scp><i>WDR45B</i></scp> pathogenic variants: Further delineation of the phenotype and genotype

Mohammed Almannai, Dana Marafi, Ghada M. H. Abdel‐Salam et al. · Clinical Genetics · 2022 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and genomic characterization of 8p cytogenomic disorders

Laura Hamm, Haluk Kavuş, Caroline M. Mebane et al. · Genetics in Medicine · 2021 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14