SARAH NICHOLAS to Developmental Disabilities
This is a "connection" page, showing publications SARAH NICHOLAS has written about Developmental Disabilities.
Connection Strength
0.308
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 11; 60(11):1092-1104.
Score: 0.152
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 01; 21(1):161-172.
Score: 0.107
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.
Score: 0.048