Felix Boschann

发表

VarFish: comprehensive DNA variant analysis for diagnostics and research

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

Hyper-IgE and Carcinoma in CADINS Disease

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

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

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

AutozygosityMapper: Identification of disease-mutations in consanguineous families

D. Seelow, Björn Fischer-Zirnsak, Robin Steinhaus, 2022, Nucleic acids research.

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.

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.

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders

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

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.

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.

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

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

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

C. Cytrynbaum, R. Weksberg, J. Lupski, 2024, NPJ genomic medicine.

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Sri V. V. Deevi, Nicholas S. Gleadall, K. Stirrups, 2020 .

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

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