Publications by authors named "Ute Grasshoff"

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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Ute Grasshoff

Brain· July 2024

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Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade, Ulrike Hüffmeier, Melissa Pauly, Ute Grasshoff

Eur J Hum Genet· March 2024

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An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.
David Adrian Merle, Susanne Kohl, Milda Reith, Karin Schäferhoff, Theresia Zuleger, Ute Grasshoff

Klin Monbl Augenheilkd· March 2024

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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.
Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Ute Grasshoff

J Med Genet· January 2024

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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Ute Grasshoff

J Med Genet· January 2024

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An early onset cone dystrophy due to CEP290 mutation: a case report.
Anastasia Binder, Susanne Kohl, Ute Grasshoff, Karin Schäferhoff, Katarina Stingl

Doc Ophthalmol· December 2023

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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Ute Grasshoff

Genet Med· August 2023

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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Ute Grasshoff

Genet Med· April 2023

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Bi-allelic loss-of-function variants in cause severe fetal akinesia with arthrogryposis multiplex.
Ruth J Falb, Amelie J Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff

J Med Genet· January 2023

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-associated Chung-Jansen syndrome: Report of 23 new individuals.
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Ute Grasshoff

Front Cell Dev Biol· January 2023

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Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Felix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, Vincent Michaud, Henri Margot, Ute Grasshoff

Am J Med Genet A· September 2022

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A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Andreas Dufke, Markus Hoopmann, Stephan Waldmüller, Natalia Carmen Prodan, Stefanie Beck-Wödl, Ute Grasshoff

Prenat Diagn· June 2022

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Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome.
Anna-Lina König, Hemmen Sabir, Brigitte Strizek, Ulrich Gembruch, Ulrike Herberg, Ute Grasshoff

Am J Med Genet A· February 2022

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, Rauan Kaiyrzhanov, Matias Wagner, Ute Grasshoff

Am J Hum Genet· October 2021

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The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy.
Veronka Horber, Ute Grasshoff, Elodie Sellier, Catherine Arnaud, Ingeborg Krägeloh-Mann

Front Neurol· February 2021

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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, Nathan H Murray, Craig A Bingman, Ute Grasshoff

Ann Neurol· August 2020

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variants in cause sporadic early-onset progressive sensorimotor neuropathy.
Joohyun Park, Bianca R Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Ute Grasshoff

J Med Genet· April 2020

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon

Mol Psychiatry· November 2019

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Ute Grasshoff

Genet Med· September 2019

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Novel Variants in Patients with Intellectual Disability.
Joohyun Park, Roberto Colombo, Karin Schäferhoff, Luigi Janiri, Mona Grimmel, Ute Grasshoff

Mol Syndromol· July 2019

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Ute Grasshoff

Genet Med· June 2019

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First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications.
Markus W Löffler, Julia Steinhilber, Franz J Hilke, Sebastian P Haen, Hans Bösmüller, Ute Grasshoff

BMC Med Genet· August 2018

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Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.
Sophie Hinreiner, Dagmar Wieczorek, Dietmar Mueller, Tanja Roedl, Gundula Thiel, Ute Grasshoff

Am J Med Genet C Semin Med Genet· June 2018

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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier

Eur J Hum Genet· February 2017

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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Julia K Ehret, Hartmut Engels, Kirsten Cremer, Jessica Becker, Johannes P Zimmermann, Ute Grasshoff

Mol Cytogenet· September 2015

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