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Kyle Retterer

Showing results (1-10 of 59) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 12, 2018
Holoprosencephaly: A clinical genomics perspectiveBenjamin D Solomon, Kyle Retterer, Jane Juusola
Cold Spring Harbor Molecular Case Studies|January 24, 2020
The tale of two genes: from next-generation sequencing to phenotypeMersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, et al.
American Journal of Human Genetics|October 7, 2025
A scalable approach for genomic-first rare disorder detection in a healthcare-based populationRebecca I Torene, Karyn Meltz Murphy, Tracy Brandt, et al.
Seminars in Nephrology|July 12, 2025
Using Large Genomic Biobanks to Generate Insights into Genetic Kidney DiseaseAlexander R Chang, Janewit Wongboonsin, Andrew J Mallett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disordersMary Beth Stosser, Amanda S Lindy, Elizabeth Butler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Uniparental disomy in a population of 32,067 clinical exome triosJulie Scuffins, Jennifer Keller-Ramey, Lindsay Dyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2017
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal developmentCarin L Yates, Kristin G Monaghan, Deborah Copenheaver, et al.
Epilepsia|April 15, 2018
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disordersAmanda S Lindy, Mary Beth Stosser, Elizabeth Butler, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic featuresEmily Webster, Megan T Cho, Nora Alexander, et al.
Medrxiv : the Preprint Server for Health Sciences|June 17, 2024
Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of <i>COL4A5</i> variantsMcKenzie Zellers, Kaushal Solanki, Melissa A Kelly, et al.
Pageof 6

Showing results (1-10 of 59) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 12, 2018
Holoprosencephaly: A clinical genomics perspectiveBenjamin D Solomon, Kyle Retterer, Jane Juusola
Cold Spring Harbor Molecular Case Studies|January 24, 2020
The tale of two genes: from next-generation sequencing to phenotypeMersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, et al.
American Journal of Human Genetics|October 7, 2025
A scalable approach for genomic-first rare disorder detection in a healthcare-based populationRebecca I Torene, Karyn Meltz Murphy, Tracy Brandt, et al.
Seminars in Nephrology|July 12, 2025
Using Large Genomic Biobanks to Generate Insights into Genetic Kidney DiseaseAlexander R Chang, Janewit Wongboonsin, Andrew J Mallett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disordersMary Beth Stosser, Amanda S Lindy, Elizabeth Butler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Uniparental disomy in a population of 32,067 clinical exome triosJulie Scuffins, Jennifer Keller-Ramey, Lindsay Dyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2017
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal developmentCarin L Yates, Kristin G Monaghan, Deborah Copenheaver, et al.
Epilepsia|April 15, 2018
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disordersAmanda S Lindy, Mary Beth Stosser, Elizabeth Butler, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic featuresEmily Webster, Megan T Cho, Nora Alexander, et al.
Medrxiv : the Preprint Server for Health Sciences|June 17, 2024
Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of <i>COL4A5</i> variantsMcKenzie Zellers, Kaushal Solanki, Melissa A Kelly, et al.
Pageof 6