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Author Details

Bj??rn Fischer-Zirnsak
Max Planck Institute for Molecular Genetics FG Development and Disease
2006
56
28
PMIDPaper TitleJournal TitlePublished Year
36802262Aorto-aortic bypass in an infant with middle aortic syndrome and Marfan syndrome: a 15-year follow-up.Interdiscip Cardiovasc Thorac Surg2023
37582359AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.Am J Hum Genet2023
36853234Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2023
34379057Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.J Med Genet2022
35842092Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.Eur J Med Genet2022
35670808Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.Genet Med2022
35489060AutozygosityMapper: Identification of disease-mutations in consanguineous families.Nucleic Acids Res2022
35689619Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2.Interact Cardiovasc Thorac Surg2022
35751599ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.Bioinformatics2022
35962790Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.Genet Med2022
35095096Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).J Hum Genet2022
35064218Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.Nat Genet2022
33320377Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.J Inherit Metab Dis2021
34436670Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.Hum Genet2021
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
32470376Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.Am J Hum Genet2020
31923704Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.Bone2020
32763190Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Am J Hum Genet2020
32338743VarFish: comprehensive DNA variant analysis for diagnostics and research.Nucleic Acids Res2020
32505691An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.Eur J Med Genet2020
30537558Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.Bone2019
30201961Correction: Arterial tortuosity syndrome: 40 new families and literature review.Genet Med2019
31353024Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Am J Hum Genet2019
31015584SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.J Hum Genet2019
31164752PEDIA: prioritization of exome data by image analysis.Genet Med2019
31106342MutationDistiller: user-driven identification of pathogenic DNA variants.Nucleic Acids Res2019
29323665Arterial tortuosity syndrome: 40 new families and literature review.Genet Med2018
28065471Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.Am J Hum Genet2017
29100093De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.Am J Hum Genet2017
27604556A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.J Hum Genet2017
26799614An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.Am J Med Genet A2016
27495975Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.Elife2016
27282648BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.Am J Med Genet A2016
25712132Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.Hum Mol Genet2015
26320891Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.Am J Hum Genet2015
26000619GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.J Invest Dermatol2015
23963297Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Eur J Hum Genet2014
25480037Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.Am J Hum Genet2014
25186178Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.Sci Transl Med2014
24913064Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.Mol Genet Metab2014
24439110Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Am J Hum Genet2014
23499309Mutations in WNT1 cause different forms of bone fragility.Am J Hum Genet2013
24035636Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.Mol Genet Metab2013
23685543Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.Bone2013
22411858De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.Am J Med Genet A2012
22773132Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.Hum Genet2012
21118999NOA1 is an essential GTPase required for mitochondrial protein synthesis.Mol Biol Cell2011
21763480Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.Am J Hum Genet2011
21739576Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding ο¹-pyrroline-5-carboxylate synthase (P5CS).Am J Med Genet A2011
20424301Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.Indian J Med Res2010
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