Publications by authors named "Ilse Anderson"

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De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
Sara Gracie, Nivedita Sengupta, Carlos Ferreira, Joshua Pemberton, Ilse Anderson

Am J Med Genet A· June 2022

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Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
Faith Lindsay, Ilse Anderson, Ingrid M Wentzensen, David Suhrbier, Cathy A Stevens

Am J Med Genet A· April 2020

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Erin Torti, Boris Keren, Elizabeth E Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J Anderson

Genet Med· September 2019

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De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, Alexandra Afenjar, Pankaj B Agrawal, Ilse J Anderson

Eur J Hum Genet· May 2019

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Ilse J Anderson

Nat Commun· May 2019

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Ilse J Anderson

Nat Commun· February 2019

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Ilse J Anderson

Nat Commun· November 2018

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De novo variants in are associated with hypotonia, developmental delay, intellectual disability, and autism.
Akemi J Tanaka, Megan T Cho, Rebecca Willaert, Kyle Retterer, Yuri A Zarate, Ilse J Anderson

Cold Spring Harb Mol Case Stud· November 2017

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The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call.
O Will Towler, Eileen M Shore, Meiqi Xu, Abbey Bamford, Ilse Anderson

Eur J Med Genet· July 2017

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New directions in cytogenetic and molecular testing of the neonate.
Ilse J Anderson, Karla J Matteson

Semin Perinatol· June 2005

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