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Nicholas Lench

Great Ormond Street Hospital for Children NHS Foundation Trust

7

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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

2019 npj Genomic Medicine
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Diagnostic implications of genetic copy number variation in epilepsy plus.

2019 Epilepsia
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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

2015 Prenatal Diagnosis
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Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

2015 Prenatal Diagnosis
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Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

2014 BMC Pregnancy and Childbirth
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Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

2013 Developmental Medicine & Child Neurology
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Citations (41)