Publications by authors named "Amy Wilfert"

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Single-cell epigenomics reveals mechanisms of human cortical development.
Ryan S Ziffra, Chang N Kim, Jayden M Ross, Amy Wilfert, Tychele N Turner

Nature· October 2021

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Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.
Jakob M Goldmann, Juliet E Hampstead, Wendy S W Wong, Amy B Wilfert, Tychele N Turner

Genome Res· September 2021

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Recent ultra-rare inherited variants implicate new autism candidate risk genes.
Amy B Wilfert, Tychele N Turner, Shwetha C Murali, PingHsun Hsieh, Arvis Sulovari

Nat Genet· August 2021

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Amy B Wilfert

Nat Commun· October 2020

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Amy B Wilfert

Nat Commun· October 2020

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Telomere-to-telomere assembly of a complete human X chromosome.
Karen H Miga, Sergey Koren, Arang Rhie, Mitchell R Vollger, Ariel Gershman, Amy B Wilfert

Nature· September 2020

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Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Tychele N Turner, Amy B Wilfert, Trygve E Bakken, Raphael A Bernier, Micah R Pepper

Am J Hum Genet· December 2019

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Amy B Wilfert

Nat Commun· October 2019

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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Amy B Wilfert, Arvis Sulovari, Tychele N Turner, Bradley P Coe, Evan E Eichler

Genome Med· November 2017

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Genome-wide significance testing of variation from single case exomes.
Amy B Wilfert, Katherine R Chao, Madhurima Kaushal, Sanjay Jain, Sebastian Zöllner

Nat Genet· December 2016

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Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Alexandra M Lopes, Kenneth I Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Amy B Wilfert

PLoS Genet· March 2013

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