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Author Details

Denise Horn
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
1981
185
46
PMIDPaper TitleJournal TitlePublished Year
34740919Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex.J Med Genet2023
37188825Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.Eur J Hum Genet2023
37427568HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Genet Med2023
37092537Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.Genet Med2023
36853234Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2023
36648066Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disorders.Elife2023
36802262Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-up.Interdiscip Cardiovasc Thorac Surg2023
36708132Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.Am J Med Genet A2023
36562171Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.Clin Genet2023
36929095Primidone improves symptoms in TRPM3-linked developmental and epileptic encephalopathy with spike-and-wave activation in sleep.Epilepsia2023
36755093Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.Nature2023
34744167Combining callers improves the detection of copy number variants from whole-genome sequencing.Eur J Hum Genet2022
35728810Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis.Neuropathol Appl Neurobiol2022
35536377Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.Hum Genet2022
35605965Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11Tâ¿¿&gt;â¿¿G Splice Variant.Neuropediatrics2022
35461687A machine learning-based screening tool for genetic syndromes in children.Lancet Digit Health2022
35689619Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2.Interact Cardiovasc Thorac Surg2022
36309531Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.Nat Commun2022
35962790Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2022
35892851Frequency of Positive Familial Criteria in Patients with Adenocarcinoma of the Esophageal-Gastric Junction and Stomach: First Prospective Data in a Caucasian Cohort.Cancers (Basel)2022
36077086Clinically Relevant <i>KCNQ1</i> Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca<sup>2+</sup> Sensitivity of the Channel.Int J Mol Sci2022
35145301GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.Nat Genet2022
34379057Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.J Med Genet2022
34633507Differential diagnosis of syndromic craniosynostosis: a case series.Arch Gynecol Obstet2022
33442026Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.Genet Med2021
33495529CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.Genet Med2021
34482537GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.Clin Genet2021
34159400Genome sequencing in families with congenital limb malformations.Hum Genet2021
33955014ANKRD11 variants: KBG syndrome and beyond.Clin Genet2021
34199532Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the <i>ATM</i> Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma.Children (Basel)2021
33402532A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.Proc Natl Acad Sci U S A2021
31081934Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance.Int J Cancer2020
31994200Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome.J Clin Ultrasound2020
31834374MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain2020
33090109Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.J Med Internet Res2020
33242881Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.Brain2020
32699352Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.Genet Med2020
32505691An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.Eur J Med Genet2020
30696996Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med2019
31353024Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Am J Hum Genet2019
31353022Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.Am J Hum Genet2019
31320746Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.Eur J Hum Genet2019
31203270Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings.Cytogenet Genome Res2019
31015584SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.J Hum Genet2019
30982135Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.Hum Genet2019
31164752PEDIA: prioritization of exome data by image analysis.Genet Med2019
30349098The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med2019
30679821Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Genet Med2019
30630535Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.BMC Med Genomics2019
29236091Noncoding copy-number variations are associated with congenital limb malformation.Genet Med2018
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Max Planck Institute for Molecular Genetics
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Martin Zenker
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Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
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Marten J??ger
Charite Universitatsmedizin Berlin
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James R Lupski
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Ulrike Kr??ger
Berlin Institute of Health (BIH)
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Claus-Eric Ott
Charite-Universitatsmedizin Berlin
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Dominik Seelow
Berliner Institut fur Gesundheitsforschung - Charite
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Tim M Strom
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Sandra C Doelken
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Sebastian Bauer
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Release 1.2