Publications by authors named "Cornelia Daumer-Haas"

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Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Cornelia Daumer-Haas

Commun Biol· June 2021

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Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Cornelia Daumer-Haas

Commun Biol· June 2021

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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Cornelia Daumer-Haas

Genet Med· February 2021

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Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Malcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, Cornelia Daumer-Haas, Björn Fischer

Am J Hum Genet· February 2014

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Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.
Julia Hoefele, Christian Wilhelm, Monika Schiesser, Reinhold Mack, Uwe Heinrich, Cornelia Daumer-Haas

Gene· May 2013

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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Björn Fischer, Aikaterini Dimopoulou, Johannes Egerer, Thatjana Gardeitchik, Alexa Kidd, Cornelia Daumer-Haas

Hum Genet· November 2012

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Cornelia Daumer-Haas

Nat Genet· January 2011

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Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Ute Hehr, Daniel E Pineda-Alvarez, Goekhan Uyanik, Ping Hu, Nan Zhou, Cornelia Daumer-Haas

Hum Genet· March 2010

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Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy.
Sabine Langer, Jochen B Geigl, Janine Wagenstaller, Gaby Lederer, Maja Hempel, Cornelia Daumer-Haas

Am J Med Genet A· April 2006

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