Publications by authors named "Addie Nesbitt"

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Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Angela M Bard, Lindsay V Clark, Erdal Cosgun, Kimberly A Aldinger, Andrew Timms, Addie Nesbitt

Am J Med Genet A· November 2024

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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Addie Nesbitt

Hum Genet· March 2024

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Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Angela M Bard, Lindsay V Clark, Erdal Cosgun, Kimberly A Aldinger, Andrew Timms, Addie Nesbitt

medRxiv· November 2023

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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, Kieran B Pechter, Jorune Balciuniene

J Mol Diagn· March 2022

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Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Katheryn Grand, Cara M Skraban, Jennifer L Cohen, Leah Dowsett, Sarah Mazzola, Addie Nesbitt

Am J Med Genet A· September 2021

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A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
Marco L Leung, Sallie McAdoo, Deborah Watson, Kallyn Stumm, Margaret Harr, Addie I Nesbitt

J Mol Diagn· January 2021

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Samuel W Baker, Jill R Murrell, Addie I Nesbitt, Kieran B Pechter, Jorune Balciuniene

J Mol Diagn· January 2019

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Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg

Genet Med· November 2018

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Addie I Nesbitt

Am J Hum Genet· October 2018

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Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg

Genet Med· October 2018

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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Anne Gregor, Lynette G Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Addie Nesbitt

Am J Hum Genet· August 2018

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Addie I Nesbitt

Am J Hum Genet· May 2018

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg

Genet Med· March 2018

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Jonas Straub, Enrico D H Konrad, Johanna Grüner, Annick Toutain, Levinus A Bok, Addie Nesbitt

Am J Hum Genet· January 2018

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Addie I Nesbitt

Am J Hum Genet· November 2017

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Cara M Skraban, Constance F Wells, Preetha Markose, Megan T Cho, Addie I Nesbitt

Am J Hum Genet· July 2017

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Precision therapy for a new disorder of AMPA receptor recycling due to mutations in .
Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, Matthew A Deardorff, Alisha B Wilkens, Addie Nesbitt

Neurol Genet· February 2017

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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
Rebecca Buchert, Addie I Nesbitt, Hasan Tawamie, Ian D Krantz, Livija Medne

Orphanet J Rare Dis· September 2016

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Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Addie Nesbitt, Elizabeth J Bhoj, Kristin McDonald Gibson, Zhenming Yu, Elizabeth Denenberg

Am J Med Genet A· November 2015

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Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie Nesbitt

Am J Hum Genet· March 2015

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Total levels of hippocampal histone acetylation predict normal variability in mouse behavior.
Addie May I Nesbitt, Richard D McCurdy, Sharell M Bryant, Mark D Alter

PLoS One· December 2014

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Global state measures of the dentate gyrus gene expression system predict antidepressant-sensitive behaviors.
Benjamin A Samuels, E David Leonardo, Alex Dranovsky, Amanda Williams, Erik Wong, Addie May I Nesbitt

PLoS One· September 2014

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Measuring the maturity of the fast-spiking interneuron transcriptional program in autism, schizophrenia, and bipolar disorder.
Michael J Gandal, Addie May Nesbitt, Richard M McCurdy, Mark D Alter

PLoS One· April 2013

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