Search Results - "Lisfeld J"

INPP4A-Related Genetic and Phenotypic Spectrum and Functional Relevance of Subcellular Targeting of INPP4A Isoforms.

Authors: Hecher, L. Harms, F. L. Lisfeld, J. et al.

Source: Neuropediatrics. 2023 Supplement 1, Vol. 54, pS1-S32. 32p.

Subcutaneous panniculitis-like T-cell lymphoma in children: a detailed clinicopathological description of 11 multifocal cases with a high frequency of haemophagocytic syndrome.

Authors: Oschlies, I. Simonitsch ‐ Klupp, I. Maldyk, J. et al.

Source: British Journal of Dermatology. Mar2015, Vol. 172 Issue 3, p793-797. 5p.

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia.

Authors: Woidy M Tsiakas K Mahmud M et al.

Source: JIMD reports [JIMD Rep] 2025 May 12; Vol. 66 (3), pp. e70009. Date of Electronic Publication: 2025 May 12 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Authors: Levine JM Calame DG Sangermano R et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Feb 05; Vol. 113 (2), pp. 362-379. Date of Electronic Publication: 2026 Jan 15.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Authors: Asadollahi R Ahmad A Boonsawat P et al.

Source: Nature genetics [Nat Genet] 2025 Nov; Vol. 57 (11), pp. 2691-2704. Date of Electronic Publication: 2025 Oct 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Authors: Kaschta D Post C Gaass F et al.

Source: Genome medicine [Genome Med] 2025 Sep 18; Vol. 17 (1), pp. 100. Date of Electronic Publication: 2025 Sep 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Authors: Schmidt A Danyel M Grundmann K et al.

Source: Nature genetics [Nat Genet] 2025 Jul; Vol. 57 (7), pp. 1790-1791.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; PubMed not MEDLINE

AUTS2-related syndrome: Insights from a large European cohort.

Authors: Loberti L Adamo L Antolini E et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101375. Date of Electronic Publication: 2025 Feb 12.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.

Authors: Harms FL Weiss D Lisfeld J et al.

Source: Neurogenetics [Neurogenetics] 2023 Jul; Vol. 24 (3), pp. 171-180. Date of Electronic Publication: 2023 Apr 11.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Authors: Holling T Lisfeld J Johannsen J et al.

Source: Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1224-1233. Date of Electronic Publication: 2022 May 11.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

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

Authors: Schmidt A Danyel M Grundmann K et al.

Source: Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1644-1653. Date of Electronic Publication: 2024 Jul 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

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

Authors: van der Ven AT Johannsen J Kortüm F et al.

Source: Clinical genetics [Clin Genet] 2021 Dec; Vol. 100 (6), pp. 766-770. Date of Electronic Publication: 2021 Sep 19.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.

Authors: Schuy J Sæther KB Lisfeld J et al.

Source: Genetics in medicine open [Genet Med Open] 2024 Jun 28; Vol. 2, pp. 101863. Date of Electronic Publication: 2024 Jun 28 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

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

Authors: Scholz T Blohm ME Kortüm F et al.

Source: Neonatology [Neonatology] 2021; Vol. 118 (4), pp. 454-461. Date of Electronic Publication: 2021 Jul 08.

Publication Type: Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101286577 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-7819 (Electronic) Linking ISSN: 16617800 NLM ISO Abbreviation: Neonatology Subsets: MEDLINE

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Authors: Aerden M Denommé-Pichon AS Bonneau D et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Apr; Vol. 31 (4), pp. 461-468. Date of Electronic Publication: 2023 Feb 07.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Impact of Fc gamma-receptor polymorphisms on the response to rituximab treatment in children and adolescents with mature B cell lymphoma/leukemia.

Authors: Burkhardt B Yavuz D Zimmermann M et al.

Source: Annals of hematology [Ann Hematol] 2016 Sep; Vol. 95 (9), pp. 1503-12. Date of Electronic Publication: 2016 Jul 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.

Authors: Fuchs S Lisfeld J Kankel S et al.

Source: Human genome variation [Hum Genome Var] 2021 Jul 28; Vol. 8 (1), pp. 32. Date of Electronic Publication: 2021 Jul 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101652445 Publication Model: Electronic Cited Medium: Print ISSN: 2054-345X (Print) Linking ISSN: 2054345X NLM ISO Abbreviation: Hum Genome Var Subsets: PubMed not MEDLINE

Non-anaplastic peripheral T-cell lymphoma in children and adolescents--a retrospective analysis of the NHL-BFM study group.

Authors: Kontny U Oschlies I Woessmann W et al.

Source: British journal of haematology [Br J Haematol] 2015 Mar; Vol. 168 (6), pp. 835-44. Date of Electronic Publication: 2014 Nov 14.

Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

Childhood acute lymphoblastic leukemia-associated risk-loci IKZF1, ARID5B and CEBPE and risk of pediatric non-Hodgkin lymphoma: a report from the Berlin-Frankfurt-Münster Study Group.

Authors: Bartram T Burkhardt B Wössmann W et al.

Source: Leukemia & lymphoma [Leuk Lymphoma] 2015 Mar; Vol. 56 (3), pp. 814-6. Date of Electronic Publication: 2014 Aug 13.

Publication Type: Letter

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9007422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1029-2403 (Electronic) Linking ISSN: 10268022 NLM ISO Abbreviation: Leuk Lymphoma Subsets: MEDLINE

High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas.

Authors: Salaverria I Martin-Guerrero I Burkhardt B et al.

Source: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2013 Feb; Vol. 52 (2), pp. 150-5. Date of Electronic Publication: 2012 Oct 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE