Search Results - "Schaaf CP"

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

Authors: van der Laan L Zwart R Venema A et al.

Source: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2026 Feb 20; Vol. 14, pp. 1782599. Date of Electronic Publication: 2026 Feb 20 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE

Systemic Interleukin-4 Application Promotes Functional Recovery and Reprograms Neuroinflammatory and Molecular Responses after Spinal Cord Injury in Rats.

Authors: Alhalabi OT Heene S Zheng G et al.

Source: Theranostics [Theranostics] 2026 Feb 11; Vol. 16 (9), pp. 4726-4744. Date of Electronic Publication: 2026 Feb 11 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Ivyspring International Publisher Country of Publication: Australia NLM ID: 101552395 Publication Model: eCollection Cited Medium: Internet ISSN: 1838-7640 (Electronic) Linking ISSN: 18387640 NLM ISO Abbreviation: Theranostics Subsets: MEDLINE

Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature.

Authors: van der Laan L Haagmans MA Venema A et al.

Source: Frontiers in genetics [Front Genet] 2026 Jan 05; Vol. 16, pp. 1730165. Date of Electronic Publication: 2026 Jan 05 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Transliterated Title: Genetische Diagnostik bei Kindern und Jugendlichen mit psychischen Störungen.

Authors: Degenhardt F Wohlleber E Spitczok von Brisinski I et al.

Source: Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie [Z Kinder Jugendpsychiatr Psychother] 2026 Jan; Vol. 54 (1), pp. 23-34. Date of Electronic Publication: 2025 Nov 19.

Publication Type: Journal Article; Review; English Abstract

Journal Info: Publisher: Verlag Hans Huber Country of Publication: Switzerland NLM ID: 9801717 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1422-4917 (Print) Linking ISSN: 14224917 NLM ISO Abbreviation: Z Kinder Jugendpsychiatr Psychother Subsets: MEDLINE

Shared Environment - Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without MECP2 Mutation.

Authors: Lang S Marschik PB Laudańska Z et al.

Source: The Journal of genetic psychology [J Genet Psychol] 2025 Nov-Dec; Vol. 186 (6), pp. 452-467. Date of Electronic Publication: 2025 Feb 19.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Psychology Press Country of Publication: United States NLM ID: 2985112R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-0896 (Electronic) Linking ISSN: 00221325 NLM ISO Abbreviation: J Genet Psychol Subsets: MEDLINE

Taylor Swift versus Mozart: music preferences of C57BL/6J mice.

Authors: Kamionek D Maass JG Pitzer C et al.

Source: Frontiers in behavioral neuroscience [Front Behav Neurosci] 2025 Oct 15; Vol. 19, pp. 1668278. Date of Electronic Publication: 2025 Oct 15 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477952 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5153 (Print) Linking ISSN: 16625153 NLM ISO Abbreviation: Front Behav Neurosci Subsets: PubMed not MEDLINE

Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.

Authors: Böhnlein J Maass JG Dennig J et al.

Source: HGG advances [HGG Adv] 2026 Jun 23, pp. 100636. Date of Electronic Publication: 2026 Jun 23.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Challenges and recommendations in establishing national human diversity genomic projects.

Authors: Oleksyk TK Wolfsberger WW Chhugani K et al.

Source: Nature methods [Nat Methods] 2026 Jun 22. Date of Electronic Publication: 2026 Jun 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101215604 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1548-7105 (Electronic) Linking ISSN: 15487091 NLM ISO Abbreviation: Nat Methods Subsets: MEDLINE

Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.

Authors: Burkart S Sailer S Körfer D et al.

Source: Langenbeck's archives of surgery [Langenbecks Arch Surg] 2026 Jun 13; Vol. 411 (1). Date of Electronic Publication: 2026 Jun 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9808285 Publication Model: Electronic Cited Medium: Internet ISSN: 1435-2451 (Electronic) Linking ISSN: 14352443 NLM ISO Abbreviation: Langenbecks Arch Surg Subsets: MEDLINE

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha-Heidelberg Collaboration.

Authors: Alsulaiman R Okashah S Badji RM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 May 15. Date of Electronic Publication: 2026 May 15.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

Authors: Buecking J Güler BE Eibl M et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 04. Date of Electronic Publication: 2026 May 04.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.

Authors: Burkart S Guzeloglu T Soares AR et al.

Source: Clinical genetics [Clin Genet] 2026 Apr; Vol. 109 (4), pp. 679-696. Date of Electronic Publication: 2025 Oct 29.

Publication Type: Journal Article; Case Reports

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 Case of Prader-Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116.

Authors: Buecking J An Y Bi W et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Aug; Vol. 197 (8), pp. e64070. Date of Electronic Publication: 2025 Apr 15.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Authors: Valentin I Caro P Fischer C et al.

Source: Clinical genetics [Clin Genet] 2025 Aug; Vol. 108 (2), pp. 168-178. Date of Electronic Publication: 2025 Feb 19.

Publication Type: Journal Article

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

Magel2 deficiency promotes cardiac remodeling and increases arrhythmogenic susceptibility in a mouse model relevant to Prader-Willi and Schaaf-Yang syndromes.

Authors: Dötsch L Weirauch L Hunger J et al.

Source: Clinical science (London, England : 1979) [Clin Sci (Lond)] 2026 Jul 15; Vol. 140 (7), pp. 1415-1427.

Publication Type: Journal Article

Journal Info: Publisher: Portland Press on behalf of the Medical Research Society and the Biochemical Society Country of Publication: England NLM ID: 7905731 Publication Model: Print Cited Medium: Internet ISSN: 1470-8736 (Electronic) Linking ISSN: 01435221 NLM ISO Abbreviation: Clin Sci (Lond) Subsets: MEDLINE

Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies.

Authors: Erhart P Dikow N Schwaibold EMC et al.

Source: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2025 Jun 24; Vol. 12, pp. 1550523. Date of Electronic Publication: 2025 Jun 24 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.

Authors: Saad C Jung-Klawitter S Dimitrov B et al.

Corporate Authors: Saad C Jung-Klawitter S Dimitrov B et al.

Source: Scientific reports [Sci Rep] 2026 Mar 31; Vol. 16 (1). Date of Electronic Publication: 2026 Mar 31.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

Authors: Höps W Porubsky D Yoo D et al.

Corporate Authors: Höps W Porubsky D Yoo D et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Mar 05. Date of Electronic Publication: 2026 Mar 05.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

Authors: Laudańska Z van der Venne P Preis H et al.

Source: Research in developmental disabilities [Res Dev Disabil] 2026 Mar; Vol. 170, pp. 105256. Date of Electronic Publication: 2026 Feb 17.

Publication Type: Journal Article; Systematic Review; Review

Journal Info: Publisher: Pergamon Press Country of Publication: United States NLM ID: 8709782 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3379 (Electronic) Linking ISSN: 08914222 NLM ISO Abbreviation: Res Dev Disabil Subsets: MEDLINE

A multi-dimensional framework for establishing and managing a genomic newborn screening program.

Authors: Schnabel-Besson E Dikow N Alex K et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Feb 28. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

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