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Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Among authors: hammer tb. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
Pisan E, De Luca C, Brancati F, Sanchez Russo R, Li D, Bhoj E, Wenger T, Marwaha A, Johnson N, Beneteau C, Brischoux-Boucher E, Houge G, Paulsen J, Hammer TB, Ek J, Schweitzer D, Russell BE, Dutra-Clarke M, Nelson S, Douine ED, Corona RI, Dudding T, Thomson H, Low K, Belnap N, Iascone M, Priolo M, Carli D, Mussa A, Bijlsma EK, Kopp N, Jais JP, Amiel J, Gordon CT. Pisan E, et al. Among authors: hammer tb. Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2317601121. doi: 10.1073/pnas.2317601121. Epub 2024 Mar 11. Proc Natl Acad Sci U S A. 2024. PMID: 38466850 Free PMC article. No abstract available.
Sleep-Related Hypoxia, Right Ventricular Dysfunction, and Survival in Patients With Group 1 Pulmonary Arterial Hypertension.
Lowery MM, Hill NS, Wang L, Rosenzweig EB, Bhat A, Erzurum S, Finet JE, Jellis CL, Kaur S, Kwon DH, Nawabit R, Radeva M, Beck GJ, Frantz RP, Hassoun PM, Hemnes AR, Horn EM, Leopold JA, Rischard FP, Mehra R; Pulmonary Vascular Disease Phenomics (PVDOMICS) Study Group. Lowery MM, et al. J Am Coll Cardiol. 2023 Nov 21;82(21):1989-2005. doi: 10.1016/j.jacc.2023.09.806. J Am Coll Cardiol. 2023. PMID: 37968017 Free PMC article.
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Lildballe DL, Frederiksen AL, Schönewolf-Greulich B, Brasch-Andersen C, Lautrup CK, Karstensen HG, Pedersen IS, Sunde L, Risom L, Rasmussen M, Bertelsen M, Andersen MK, Rendtorff ND, Gregersen PA, Tørring PM, Hammer-Hansen S, Boonen SE, Lindquist SG, Hammer TB, Diness BR. Lildballe DL, et al. Among authors: hammer tb. Eur J Med Genet. 2023 Dec;66(12):104872. doi: 10.1016/j.ejmg.2023.104872. Epub 2023 Nov 13. Eur J Med Genet. 2023. PMID: 37967791
242 results