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Carey-Anne Evans

Showing results (1-10 of 14) with videos related to

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Journal of Medical Genetics|January 26, 2020
Impacts of genomics on the health and social costs of intellectual disabilityBrett Doble, Deborah Schofield, Carey-Anne Evans, et al.
American Journal of Medical Genetics. Part A|July 20, 2019
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencingCarey-Anne Evans, Jason Pinner, Cheng Y Chan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2023
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variantCaitlin Forwood, Katie Ashton, Ying Zhu, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 23, 2023
Dominant-negative variants in CBX1 cause a neurodevelopmental disorderYukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Journal of Medical Genetics|January 26, 2020
Impacts of genomics on the health and social costs of intellectual disabilityBrett Doble, Deborah Schofield, Carey-Anne Evans, et al.
American Journal of Medical Genetics. Part A|July 20, 2019
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencingCarey-Anne Evans, Jason Pinner, Cheng Y Chan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2023
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variantCaitlin Forwood, Katie Ashton, Ying Zhu, et al.
The Journal of Molecular Diagnostics : JMD|May 7, 2021
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and EfficiencySamantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 23, 2023
Dominant-negative variants in CBX1 cause a neurodevelopmental disorderYukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
Nature Communications|November 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological developmentDavor Lessel, Daniela M Zeitler, Margot R F Reijnders, et al.
Pageof 2