Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Maya ChopraDustin L GableJamie Love-NicholsAlexa TsaoShira RockowitzPiotr SlizElizabeth BarkoudahLucia BastianelliDavid CoulterEmily DavidsonClaudio M De GusmaoDavid FogelmanKathleen HuthPaige MarshallDonna NimecJessica Solomon SandersBenjamin J ShoreBrian SnyderScellig S D StoneAna UbedaColyn WatkinsCharles BerdeJeffrey BoltonCatherine BrownsteinMichael CostiganDarius Ebrahimi-FakhariAbbe LaiAnne O'Donnell-LuriaAlex R PaciorkowskiAnna PintoJohn PughLance RodanEugene RoeLindsay SwansonBo ZhangMichael C KruerMustafa SahinAnnapurna H PoduriSiddharth SrivastavaPublished in: Annals of clinical and translational neurology (2022)
WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors.
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