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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: trautmann j. 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: trautmann j. 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: trautmann j. 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.
Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer".
Hess T, Maj C, Gehlen J, Borisov O, Haas SL, Gockel I, Vieth M, Piessen G, Alakus H, Vashist Y, Pereira C, Knapp M, Schüller V, Quaas A, Grabsch HI, Trautmann J, Malecka-Wojciesko E, Mokrowiecka A, Speller J, Mayr A, Schröder J, Hillmer AM, Heider D, Lordick F, Pérez-Aísa Á, Campo R, Espinel J, Geijo F, Thomson C, Bujanda L, Sopeña F, Lanas Á, Pellisé M, Pauligk C, Goetze TO, Zelck C, Reingruber J, Hassanin E, Elbe P, Alsabeah S, Lindblad M, Nilsson M, Kreuser N, Thieme R, Tavano F, Pastorino R, Arzani D, Persiani R, Jung JO, Nienhüser H, Ott K, Schumann RR, Kumpf O, Burock S, Arndt V, Jakubowska A, Ławniczak M, Moreno V, Martín V, Kogevinas M, Pollán M, Dąbrowska J, Salas A, Cussenot O, Boland-Auge A, Daian D, Deleuze JF, Salvi E, Teder-Laving M, Tomasello G, Ratti M, Senti C, De Re V, Steffan A, Hölscher AH, Messerle K, Bruns CJ, Sīviņš A, Bogdanova I, Skieceviciene J, Arstikyte J, Moehler M, Lang H, Grimminger PP, Kruschewski M, Vassos N, Schildberg C, Lingohr P, Ridwelski K, Lippert H, Fricker N, Krawitz P, Hoffmann P, Nöthen MM, Veits L, Izbicki JR, Mostowska A, Martinón-Torres F, Cusi D, Adolfsson R, Cancel-Tassin G, Höblinger A, Rodermann E, Ludwig M, Keller G, Metsp… See abstract for full author list ➔ Hess T, et al. Among authors: trautmann j. EBioMedicine. 2023 Aug;94:104709. doi: 10.1016/j.ebiom.2023.104709. Epub 2023 Jul 20. EBioMedicine. 2023. PMID: 37480624 Free PMC article. No abstract available.
Dissecting the genetic heterogeneity of gastric cancer.
Hess T, Maj C, Gehlen J, Borisov O, Haas SL, Gockel I, Vieth M, Piessen G, Alakus H, Vashist Y, Pereira C, Knapp M, Schüller V, Quaas A, Grabsch HI, Trautmann J, Malecka-Wojciesko E, Mokrowiecka A, Speller J, Mayr A, Schröder J, Hillmer AM, Heider D, Lordick F, Pérez-Aísa Á, Campo R, Espinel J, Geijo F, Thomson C, Bujanda L, Sopeña F, Lanas Á, Pellisé M, Pauligk C, Goetze TO, Zelck C, Reingruber J, Hassanin E, Elbe P, Alsabeah S, Lindblad M, Nilsson M, Kreuser N, Thieme R, Tavano F, Pastorino R, Arzani D, Persiani R, Jung JO, Nienhüser H, Ott K, Schumann RR, Kumpf O, Burock S, Arndt V, Jakubowska A, Ławniczak M, Moreno V, Martín V, Kogevinas M, Pollán M, Dąbrowska J, Salas A, Cussenot O, Boland-Auge A, Daian D, Deleuze JF, Salvi E, Teder-Laving M, Tomasello G, Ratti M, Senti C, De Re V, Steffan A, Hölscher AH, Messerle K, Bruns CJ, Sīviņš A, Bogdanova I, Skieceviciene J, Arstikyte J, Moehler M, Lang H, Grimminger PP, Kruschewski M, Vassos N, Schildberg C, Lingohr P, Ridwelski K, Lippert H, Fricker N, Krawitz P, Hoffmann P, Nöthen MM, Veits L, Izbicki JR, Mostowska A, Martinón-Torres F, Cusi D, Adolfsson R, Cancel-Tassin G, Höblinger A, Rodermann E, Ludwig M, Keller G, Metsp… See abstract for full author list ➔ Hess T, et al. Among authors: trautmann j. EBioMedicine. 2023 Jun;92:104616. doi: 10.1016/j.ebiom.2023.104616. Epub 2023 May 18. EBioMedicine. 2023. PMID: 37209533 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: trautmann j. 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.
Feasibility of a prehabilitation programme dedicated to older patients with cancer before complex medical-surgical procedures: the PROADAPT pilot study protocol.
Roche M, Ravot C, Malapert A, Paget-Bailly S, Garandeau C, Pitiot V, Tomatis M, Riche B, Galamand B, Granger M, Barbavara C, Bourgeois C, Genest E, Stefani L, Haïne M, Castel-Kremer E, Morel-Soldner I, Collange V, Le Saux O, Dayde D, Falandry C; PROADAPT working group. Roche M, et al. BMJ Open. 2021 Apr 2;11(4):e042960. doi: 10.1136/bmjopen-2020-042960. BMJ Open. 2021. PMID: 33811052 Free PMC article.
Crossed optical cavities with large mode diameters.
Heinz A, Trautmann J, Šantić N, Jihyun Park A, Bloch I, Blatt S. Heinz A, et al. Among authors: trautmann j. Opt Lett. 2021 Jan 15;46(2):250-253. doi: 10.1364/OL.414076. Opt Lett. 2021. PMID: 33448999
State-Dependent Optical Lattices for the Strontium Optical Qubit.
Heinz A, Park AJ, Šantić N, Trautmann J, Porsev SG, Safronova MS, Bloch I, Blatt S. Heinz A, et al. Among authors: trautmann j. Phys Rev Lett. 2020 May 22;124(20):203201. doi: 10.1103/PhysRevLett.124.203201. Phys Rev Lett. 2020. PMID: 32501054
106 results