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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zampo… See abstract for full author list ➔ Helbig KL, et al. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
A Genocentric Approach to Discovery of Mendelian Disorders.
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM; Task Force for Neonatal Genomics; Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. Hansen AW, et al. Am J Hum Genet. 2019 Nov 7;105(5):974-986. doi: 10.1016/j.ajhg.2019.09.027. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668702 Free PMC article.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zampo… See abstract for full author list ➔ Helbig KL, et al. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
Progressive changes in right ventricular geometric shortening and long-term survival in pulmonary arterial hypertension.
Mauritz GJ, Kind T, Marcus JT, Bogaard HJ, van de Veerdonk M, Postmus PE, Boonstra A, Westerhof N, Vonk-Noordegraaf A. Mauritz GJ, et al. Among authors: marcus jt. Chest. 2012 Apr;141(4):935-943. doi: 10.1378/chest.10-3277. Epub 2011 Sep 29. Chest. 2012. PMID: 21960697

Based on the survival after this 1-year run-in period, patients were classified into two groups: survivors (26 patients; subsequent survival of > 4 years) and nonsurvivors (16 patients; subsequent survival of < 4 years). Four-chamber cine imaging was used to quantify

Based on the survival after this 1-year run-in period, patients were classified into two groups: survivors (26 patients; subsequent survival …
Interventricular septal configuration at mr imaging and pulmonary arterial pressure in pulmonary hypertension.
Roeleveld RJ, Marcus JT, Faes TJ, Gan TJ, Boonstra A, Postmus PE, Vonk-Noordegraaf A. Roeleveld RJ, et al. Among authors: marcus jt. Radiology. 2005 Mar;234(3):710-7. doi: 10.1148/radiol.2343040151. Epub 2005 Jan 5. Radiology. 2005. PMID: 15634939
Synchronous right- and left-ventricular pressure measurements and four-chamber magnetic resonance (MR) imaging were used to identify timing of maximal leftward ventricular septal bowing within cardiac cycle. ...
Synchronous right- and left-ventricular pressure measurements and four-chamber magnetic resonance (MR) imaging were used to identify …
Right ventricular ejection fraction is better reflected by transverse rather than longitudinal wall motion in pulmonary hypertension.
Kind T, Mauritz GJ, Marcus JT, van de Veerdonk M, Westerhof N, Vonk-Noordegraaf A. Kind T, et al. Among authors: marcus jt. J Cardiovasc Magn Reson. 2010 Jun 4;12(1):35. doi: 10.1186/1532-429X-12-35. J Cardiovasc Magn Reson. 2010. PMID: 20525337 Free PMC article.
METHODS: In 101 PH patients and 29 control subjects cardiovascular magnetic resonance was performed. From four-chamber cine imaging, RV transverse motion was quantified as the change of the septum-free-wall (SF) distance between end-diastole and end-systole at seven levels …
METHODS: In 101 PH patients and 29 control subjects cardiovascular magnetic resonance was performed. From four-chamber cine imaging, …
Prolonged right ventricular post-systolic isovolumic period in pulmonary arterial hypertension is not a reflection of diastolic dysfunction.
Mauritz GJ, Marcus JT, Westerhof N, Postmus PE, Vonk-Noordegraaf A. Mauritz GJ, et al. Among authors: marcus jt. Heart. 2011 Mar;97(6):473-8. doi: 10.1136/hrt.2010.193375. Epub 2010 Oct 7. Heart. 2011. PMID: 20930045
METHODS: 23 patients with PAH (mean pulmonary arterial pressure 54 12 mm Hg), and 18 healthy subjects were studied using cardiac MRI. In a RV two-chamber view, times of pulmonary valve closure (T(PVC)) and tricuspid valve opening (T(TVO)) were measured, defining the total …
METHODS: 23 patients with PAH (mean pulmonary arterial pressure 54 12 mm Hg), and 18 healthy subjects were studied using cardiac MRI. In a R …
Prefrontal cortex lesions and scopolamine impair attention performance of C57BL/6 mice in a novel 2-choice visual discrimination task.
Dillon GM, Shelton D, McKinney AP, Caniga M, Marcus JN, Ferguson MT, Kornecook TJ, Dodart JC. Dillon GM, et al. Among authors: marcus jn. Behav Brain Res. 2009 Dec 1;204(1):67-76. doi: 10.1016/j.bbr.2009.04.036. Epub 2009 May 4. Behav Brain Res. 2009. PMID: 19416740
Mice were trained on a 2-choice visual discrimination task in an operant chamber, wherein the correct response on any given trial was a lever-press cued by a stimulus light. ...
Mice were trained on a 2-choice visual discrimination task in an operant chamber, wherein the correct response on any given trial was …