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Page 1
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: mangold e. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: mangold e. medRxiv [Preprint]. 2023 Mar 29:2023.03.27.23287689. doi: 10.1101/2023.03.27.23287689. medRxiv. 2023. PMID: 37034625 Free PMC article. Preprint.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: mangold e. Am J Hum Genet. 2024 Apr 4;111(4):805. doi: 10.1016/j.ajhg.2024.03.009. Epub 2024 Mar 20. Am J Hum Genet. 2024. PMID: 38508193 Free article. No abstract available.
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
Zieger HK, Weinhold L, Schmidt A, Holtgrewe M, Juranek SA, Siewert A, Scheer AB, Thieme F, Mangold E, Ishorst N, Brand FU, Welzenbach J, Beule D, Paeschke K, Krawitz PM, Ludwig KU. Zieger HK, et al. Among authors: mangold e. HGG Adv. 2022 Dec 5;4(1):100166. doi: 10.1016/j.xhgg.2022.100166. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36589413 Free PMC article.
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N, Henschel L, Thieme F, Drichel D, Sivalingam S, Mehrem SL, Fechtner AC, Fazaal J, Welzenbach J, Heimbach A, Maj C, Borisov O, Hausen J, Raff R, Hoischen A, Dixon M, Rada-Iglesias A, Bartusel M, Rojas-Martinez A, Aldhorae K, Braumann B, Kruse T, Kirschneck C, Spanier G, Reutter H, Nowak S, Gölz L, Knapp M, Buness A, Krawitz P, Nöthen MM, Nothnagel M, Becker T, Ludwig KU, Mangold E. Ishorst N, et al. Among authors: mangold e. Mol Genet Genomic Med. 2023 Mar;11(3):e2109. doi: 10.1002/mgg3.2109. Epub 2022 Dec 5. Mol Genet Genomic Med. 2023. PMID: 36468602 Free PMC article.
Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes.
Mathey CM, Maj C, Scheer AB, Fazaal J, Wedi B, Wieczorek D, Amann PM, Löffler H, Koch L, Schöffl C, Dickel H, Ganjuur N, Hornung T, Forkel S, Greve J, Wurpts G, Hallberg P, Bygum A, Von Buchwald C, Karawajczyk M, Steffens M, Stingl J, Hoffmann P, Heilmann-Heimbach S, Mangold E, Ludwig KU, Rasmussen ER, Wadelius M, Sachs B, Nöthen MM, Forstner AJ. Mathey CM, et al. Among authors: mangold e. Front Genet. 2022 Jul 18;13:914376. doi: 10.3389/fgene.2022.914376. eCollection 2022. Front Genet. 2022. PMID: 35923707 Free PMC article.
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
Gehlen J, Giel AS, Köllges R, Haas SL, Zhang R, Trcka J, Sungur AÖ, Renziehausen F, Bornholdt D, Jung D, Hoyer PD, Nordenskjöld A, Tibboel D, Vlot J, Spaander MCW, Smigiel R, Patkowski D, Roeleveld N, van Rooij IA, de Blaauw I, Hölscher A, Pauly M, Leutner A, Fuchs J, Niethammer J, Melissari MT, Jenetzky E, Zwink N, Thiele H, Hilger AC, Hess T, Trautmann J, Marks M, Baumgarten M, Bläss G, Landén M, Fundin B, Bulik CM, Pennimpede T, Ludwig M, Ludwig KU, Mangold E, Heilmann-Heimbach S, Moebus S, Herrmann BG, Alsabeah K, Burgos CM, Lilja HE, Azodi S, Stenström P, Arnbjörnsson E, Frybova B, Lebensztejn DM, Debek W, Kolodziejczyk E, Kozera K, Kierkus J, Kaliciński P, Stefanowicz M, Socha-Banasiak A, Kolejwa M, Piaseczna-Piotrowska A, Czkwianianc E, Nöthen MM, Grote P, Rygl M, Reinshagen K, Spychalski N, Ludwikowski B, Hubertus J, Heydweiller A, Ure B, Muensterer OJ, Aubert O, Gosemann JH, Lacher M, Degenhardt P, Boemers TM, Mokrowiecka A, Małecka-Panas E, Wöhr M, Knapp M, Seitz G, de Klein A, Oracz G, Brosens E, Reutter H, Schumacher J. Gehlen J, et al. Among authors: mangold e. HGG Adv. 2022 Jan 25;3(2):100093. doi: 10.1016/j.xhgg.2022.100093. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35199045 Free PMC article.
164 results