F. Boschann

发表

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

J. Lupski, D. Horn, M. Spielmann, 2022, Genetics in Medicine.

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

T. Wienker, D. Seelow, D. Horn, 2020, European journal of medical genetics.

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Lynch, Gilmour, Sri V. V. Deevi, 2020 .

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

D. Horn, C. Garel, V. Narayanan, 2023, eLife.

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)

S. Mundlos, M. Holtgrewe, Björn Fischer-Zirnsak, 2022, Journal of Human Genetics.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

D. Horn, S. Mundlos, J. Pantel, 2019, European Journal of Human Genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

A. Pagnamenta, B. Chung, S. Guter, 2021, Journal of Medical Genetics.

VarFish: comprehensive DNA variant analysis for diagnostics and research

D. Seelow, S. Mundlos, M. Spielmann, 2020, Nucleic Acids Res..

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

P. Stankiewicz, K. Bowling, Yaping Yang, 2021, American journal of medical genetics. Part A.

Plasma Kynurenine Predicts Severity and Complications of Heart Failure and Associates with Established Biochemical and Clinical Markers of Disease

T. Dschietzig, V. Mitrović, A. Meinitzer, 2019, Kidney and Blood Pressure Research.

Hyper-IgE and Carcinoma in CADINS Disease

D. Aust, A. Snow, R. Berner, 2022, Frontiers in Immunology.

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

D. Seelow, D. Horn, S. Mundlos, 2021, Journal of Medical Genetics.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Heinen, Heiko, Kehrer, 2023, medRxiv.

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

D. Horn, P. Lapunzina, Nadja Ehmke, 2021, Genetics in Medicine.

Novel noncanonical splice site variant causes mild CHD7‐related disorder with variable intrafamilial expressivity

D. Horn, M. Bloching, S. Lyutenski, 2023, American journal of medical genetics. Part A.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

J. Lupski, D. Seelow, D. Horn, 2023, European Journal of Human Genetics.

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders

Z. Tümer, A. Afenjar, R. Møller, 2021, Clinical genetics.

VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

Stefan Mundlos, Manuel Holtgrewe, Uwe Kornak, 2020, bioRxiv.

Primidone improves symptoms in TRPM3‐linked developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep

D. Horn, T. Voets, A. Kaindl, 2023 .

Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy

A. Kaindl, S. Biskup, C. Gunnarsson, 2023, Frontiers in Neurology.

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis

A. Hermann, M. von der Hagen, J. Hennermann, 2021, Journal of Neurology.

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency

Kenneth G. C. Smith, S. Mundlos, Lan-Sun Chen, 2021, Frontiers in Immunology.