Miranda Splitt

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman et al. · Journal of Medical Genetics · 2005 · 102 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy et al. · Nature Communications · 2015 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

Rebecca Poole, Donald J Leith, Louise E Docherty et al. · European Journal of Human Genetics · 2011 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Lauren Jeffries, Emily K. Mis, Kirsty McWalter et al. · Genetics in Medicine · 2023 · 11 citations · Full text

Medicine, Genetics, Molecular Genetics +10