Publications by authors named "Kloth Katja"

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Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use.
Anna Worthmann, Julius Ridder, Sharlaine Y L Piel, Ioannis Evangelakos, Melina Musfeldt, Katja Kloth

Nat Commun· January 2024

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The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature.
Katja Kloth, Stefan Klohs, Jasmin Bhullar, Michael Boettcher, Maja Hempel

Eur J Pediatr Surg· August 2022

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PIGN encephalopathy: Characterizing the epileptology.
Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Katja Kloth

Epilepsia· April 2022

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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Amelie T van der Ven, Jessika Johannsen, Fanny Kortüm, Matias Wagner, Konstantinos Tsiakas, Katja Kloth

Clin Genet· December 2021

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Defining the Spectrum, Treatment and Outcome of Patients With Genetically Confirmed Gorlin Syndrome From the HIT-MED Cohort.
Katja Kloth, Denise Obrecht, Dominik Sturm, Torsten Pietsch, Monika Warmuth-Metz

Front Oncol· November 2021

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Katja Kloth, Bernarda Lozic, Julia Tagoe, Mariëtte J V Hoffer, Amelie Van der Ven

Neurogenetics· October 2021

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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Tasja Scholz, Martin Ernst Blohm, Fanny Kortüm, Tatjana Bierhals, Davor Lessel, Katja Kloth

Neonatology· September 2021

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Katja Kloth

Nat Genet· July 2021

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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Yuri A Zarate, Tomoko Uehara, Kota Abe, Masayuki Oginuma, Sora Harako, Katja Kloth

Genet Med· June 2021

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Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2.
Katja Kloth, Axel Neu, Isabella Rau, Wiebke Hülsemann, Kerstin Kutsche

Eur J Med Genet· March 2021

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Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
Kloth Katja, Vater Inga, Lindschau Ramona, Caliebe Almuth, Muschol Nicole Maria

Mol Genet Metab Rep· December 2020

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Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling.
Fatemeh Hassani Nia, Daniel Woike, Katja Kloth, Fanny Kortüm, Hans-Jürgen Kreienkamp

J Neurochem· November 2020

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Katja Kloth

Eur J Hum Genet· October 2020

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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.
Thomas Eggermann, Florian Kraft, Katja Kloth, Eva Klopocki, Irina Hüning

Clin Genet· October 2020

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Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.
Katja Kloth, Claudia Cozma, Maxim Bester, Christian Gerloff, Saskia Biskup

Eur J Med Genet· September 2020

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Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous Missense Variant.
Jessika Johannsen, Tatjana Bierhals, Philipp Deindl, Laura Hecher, Katharina Hermann, Katja Kloth

J Pediatr Genet· December 2019

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Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Sina Renner, Helke Schüler, Malik Alawi, Verena Kolbe, Meike Rybczynski, Katja Kloth

Genet Med· August 2019

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16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Katja Kloth, Sina Renner, Gunter Burmester, Doris Steinemann, Brigitte Pabst

Clin Genet· July 2019

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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Katja Kloth, Tatjana Bierhals, Jessika Johannsen, Frederike L Harms, Jane Juusola

Hum Genet· June 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, Katja Kloth

Nat Commun· May 2019

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Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf

BMC Med Genet· April 2019

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Exome Sequencing in Children.
Elisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, Katja Kloth, Sabine Lüttgen

Dtsch Arztebl Int· March 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, Katja Kloth

Nat Commun· February 2019

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Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Linda Xu, Hanne Jensen, Jennifer J Johnston, Emilio Di Maria, Katja Kloth

Am J Hum Genet· December 2018

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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, Katja Kloth

Nat Commun· November 2018

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