F. Kortüm

发表

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

N. Brown, S. Köhler, D. Horn, 2017, bioRxiv.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

D. Horn, Soma Das, D. Wieczorek, 2011, Journal of Medical Genetics.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

F. Kortüm, K. Girisha, A. Shukla, 2018, European Journal of Human Genetics.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness

T. Meitinger, T. Strom, F. Kortüm, 2019 .

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

D. Horn, F. Kortüm, K. Kutsche, 2018, American journal of medical genetics. Part A.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

F. Kortüm, D. Lessel, J. Denecke, 2021, Neonatology.

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

F. Kortüm, M. Beckstette, V. Komarek, 2014, European Journal of Human Genetics.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

H. Ropers, D. Wieczorek, F. Kortüm, 2010, Nature Genetics.

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

F. Kortüm, K. Girisha, A. Dalal, 2015, European Journal of Human Genetics.

Successful treatment of multicentric Castleman's disease with combined immunochemotherapy in an AIDS patient with multiorgan failure

F. Kortüm, F. Mayer, R. Riessen, 2008, Leukemia.

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

F. Kortüm, G. Rosenberger, Frederike L Harms, 2015, PloS one.

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.

N. Dokholyan, F. Kortüm, K. Kutsche, 2020, Cell calcium.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

F. Kortüm, L. Graul-Neumann, K. Kloth, 2021, neurogenetics.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

F. Kortüm, J. Denecke, G. Rosenberger, 2018, neurogenetics.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

D. Horn, Alexej Knaus, F. Kortüm, 2019, American journal of human genetics.

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8

F. Kortüm, T. Liehr, M. Shoukier, 2013, Cytogenetic and Genome Research.

Phenotypic spectrum associated with CASK loss-of-function mutations

Soma Das, R. Scott, E. Ortibus, 2011, Journal of Medical Genetics.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

W. Chung, J. Lupski, R. Myers, 2017, American journal of human genetics.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

W. Chung, J. Lupski, R. Myers, 2016, bioRxiv.

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

F. Kortüm, K. Gripp, F. Santos-Simarro, 2019, American journal of human genetics.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

F. Kortüm, B. Dallapiccola, V. Caputo, 2015, Nature Genetics.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype

Stephanie Spranger, Malik Alawi, Kerstin Kutsche, 2017, Pediatrics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

S. Robertson, M. Digilio, F. Kortüm, 2020, European journal of medical genetics.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

J. Lupski, F. Kortüm, V. Sutton, 2019, American journal of medical genetics. Part A.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

F. Kortüm, K. Girisha, A. Shukla, 2021, Scientific Reports.

Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

F. Kortüm, K. Kutsche, T. Mir, 2020, Genes.

Exome Sequencing in Children.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Homozygous HOXB1 loss‐of‐function mutation in a large family with hereditary congenital facial paresis

A. Borkhardt, F. Kortüm, E. Mayatepek, 2016, American journal of medical genetics. Part A.

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

D. Wieczorek, F. Kortüm, E. Seemanová, 2011, Molecular Syndromology.

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β‐catenin signaling

F. Kortüm, K. Kloth, H. Kreienkamp, 2020, Journal of neurochemistry.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

H. Prokisch, F. Kortüm, S. Wortmann, 2021, Clinical genetics.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

K. Grzeschik, A. Buness, F. Kortüm, 2020, American journal of human genetics.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body

F. Kortüm, S. Nampoothiri, J. Altmüller, 2018, The British journal of dermatology.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

R. Pfundt, F. Kortüm, C. Gilissen, 2024, American journal of human genetics.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

F. Kortüm, J. Denecke, G. Rosenberger, 2018, neurogenetics.