2021

Genome sequencing in families with congenital limb malformations
Elsner J, Mensah M, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva D, Elçioglu N, Filges I, Gerkes E, Girisha K, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter M, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M
HUM GENET. 2021;140(8):1229-1239.

2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas T, Li D, Nair D, Alaimo J, Alders M, Altmüller J, Barakat T, Bebin E, Bertsch N, Blackburn P, Blesson A, Bouman A, Brockmann K, Brunelle P, Burmeister M, Cooper G, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik L, Gunderson L, Hasadsri L, Jain M, Karimov C, Keena B, Klee E, Kloth K, Lace B, Macchiaiolo M, Marcadier J, Milunsky J, Napier M, Ortiz-Gonzalez X, Pichurin P, Pinner J, Powis Z, Prasad C, Radio F, Rasmussen K, Renaud D, Rush E, Saunders C, Selcen D, Seman A, Shinde D, Smith E, Smol T, Snijders Blok L, Stoler J, Tang S, Tartaglia M, Thompson M, van de Kamp J, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai E, Zampino G, Campeau P, Bhoj E
EUR J HUM GENET. 2020;28(10):1422-1431.

2019

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

Letzte Aktualisierung aus dem FIS: 07.12.2022 - 00:35 Uhr