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Kyle Retterer

Showing results (21-30 of 59) with videos related to

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American Journal of Medical Genetics. Part A|April 18, 2015
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencingYuri A Zarate, Hazel Perry, Tawfeg Ben-Omran, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyYizhou Ye, Megan T Cho, Kyle Retterer, et al.
American Journal of Human Genetics|June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart DefectsLia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
Human Genetics|April 7, 2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresVolkan Okur, Megan T Cho, Lindsay Henderson, et al.
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencingMarissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
JAMA|February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral PalsyAndrés Moreno-De-Luca, Francisca Millan, Denis R Pesacreta, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
Pageof 6

Showing results (21-30 of 59) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|April 18, 2015
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencingYuri A Zarate, Hazel Perry, Tawfeg Ben-Omran, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyYizhou Ye, Megan T Cho, Kyle Retterer, et al.
American Journal of Human Genetics|June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart DefectsLia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
Human Genetics|April 7, 2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresVolkan Okur, Megan T Cho, Lindsay Henderson, et al.
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2025
Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencingMarissa W Mitchel, Matthew Oetjens, Alexander S F Berry, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
JAMA|February 2, 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral PalsyAndrés Moreno-De-Luca, Francisca Millan, Denis R Pesacreta, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
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