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

125 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quélin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V. Lavillaureix A, et al. Among authors: abou jamra r. Genet Med. 2024 Jul;26(7):101126. doi: 10.1016/j.gim.2024.101126. Epub 2024 Mar 24. Genet Med. 2024. PMID: 38529886 Free article.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: abou jamra r. Brain. 2024 Oct 3;147(10):3562-3572. doi: 10.1093/brain/awae085. Brain. 2024. PMID: 38489591
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K. Luppe J, et al. Among authors: abou jamra r. Eur J Hum Genet. 2023 Mar;31(3):345-352. doi: 10.1038/s41431-022-01269-6. Epub 2022 Dec 23. Eur J Hum Genet. 2023. PMID: 36564538 Free PMC article.
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Kempf E, Landgraf K, Stein R, Hanschkow M, Hilbert A, Abou Jamra R, Boczki P, Herberth G, Kühnapfel A, Tseng YH, Stäubert C, Schöneberg T, Kühnen P, Rayner NW, Zeggini E, Kiess W, Blüher M, Körner A. Kempf E, et al. Among authors: abou jamra r. Nat Metab. 2022 Dec;4(12):1697-1712. doi: 10.1038/s42255-022-00703-9. Epub 2022 Dec 19. Nat Metab. 2022. PMID: 36536132 Free PMC article.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: abou jamra r. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: abou jamra r. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. N Engl J Med. 2024. PMID: 38838312 Free PMC article.
No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia.
Jönsson EG, Abou Jamra R, Schumacher J, Flyckt L, Edman G, Forslund K, Mattila-Evenden M, Rylander G, Asberg M, Bjerkenstedt L, Wiesel FA, Propping P, Cichon S, Nöthen MM, Sedvall GC. Jönsson EG, et al. Among authors: abou jamra r. Psychiatr Genet. 2003 Sep;13(3):175-8. doi: 10.1097/00041444-200309000-00007. Psychiatr Genet. 2003. PMID: 12960750
125 results