Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

250 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hülsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D. Mensah MA, et al. Among authors: hoischen a. Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. Nature. 2023. PMID: 36755093 Free PMC article.
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.
de Boer E, Marcelis C, Neveling K, van Beusekom E, Hoischen A, Klein WM, de Leeuw N, Mantere T, Melo US, van Reeuwijk J, Smeets D, Spielmann M, Kleefstra T, van Bokhoven H, Vissers LELM. de Boer E, et al. Among authors: hoischen a. HGG Adv. 2023 Apr 25;4(3):100200. doi: 10.1016/j.xhgg.2023.100200. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37216008 Free PMC article.
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Sahajpal NS, Hastie AR, Schieck M, Mondal AK, Felde M, van der Made CI, Chou JS, Randolph AG, Illig T, Zody MC, Brownstein CA, Beggs AH, Hoischen A, Chaubey A, Kolhe R; COVID19hostgenomesv Consortium. Sahajpal NS, et al. Among authors: hoischen a. Biomolecules. 2023 Jan 9;13(1):133. doi: 10.3390/biom13010133. Biomolecules. 2023. PMID: 36671517 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Among authors: hoischen a. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: hoischen a. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
Precision oncology using organoids of a secretory carcinoma of the salivary gland treated with TRK-inhibitors.
Lassche G, van Engen-van Grunsven ACH, van Hooij O, Aalders TW, Am Weijers J, Cocco E, Drilon A, Hoischen A, Neveling K, Schalken JA, Verhaegh GW, van Herpen CML. Lassche G, et al. Among authors: hoischen a. Oral Oncol. 2023 Feb;137:106297. doi: 10.1016/j.oraloncology.2022.106297. Epub 2023 Jan 5. Oral Oncol. 2023. PMID: 36610231 Free PMC article.
250 results