13 research outputs found
Concert recording 2017-11-20a
[Track 1]. Che farò senza Euridice? from Orfeo ed Euridice / Christoph Willibald Gluck -- [Track 2]. 2 Gesänge, op. 91. I. Gestillte Sehnsucht II. Giestliches Wiegenlied / Johannes Brahms -- [Track 3]. Ô mon cher amant, je te jure [Track 4]. Tu n\u27es pas beau, tu n\u27es pas riche from La Périchole / Jacques Offenbach -- [Track 5]. La vie en rose / Édith Piaf
Concert recording 2016-04-22
[Track 01]. Ombra mai fu from Xerxes / George Frideric Handel -- [Track 02]. Adam and Eve duet from The creation / Joseph Haydn -- [Track 03]. Morire ; Sole e amore ; Salve Regina / Giacomo Puccini -- [Track 04]. Ó mon cher amant from La périchole ; Ah, what a feast ; You are not rich / Jacques Offenbach -- [Track 05]. Spiel auf deiner Geige from Venus in Seide / Robert Stolz -- [Track 06]. Belle nuit, ô nuit d\u27amour from Les contes d\u27Hoffmann / Jacques Offenbach -- [Track 07]. O wär ich schon from Fidelio / Ludwig van Beethoven -- [Track 08]. Orlofsky\u27s aria from Die Fledermaus / Johann Strauss II -- [Track 09]. He\u27s got the whole world in his hands / Moses Hogan -- [Track 10]. This little light of mine / Jacqueline B. Hariston -- [Track 11]. Take my hand, precious lord / Rev. Thomas A. Dorsey
Concert recording 2016-10-26
[Track 1]. Come raggio di sol / Antonio Caldara -- [Track 2]. Wishing you were somehow here again from The phantom of the opera / Andrew Lloyd Webber -- [Track 3]. Nicht mehr zu dir zu gehen / Johannes Brahms -- [Track 4]. You are not rich from La périchole / Jacques Offenbach -- [Track 5]. Una donna a quindici anni from Cosi fan tutte / Wolfgang Amadeus Mozart -- [Track 6]. Stranger in paradise from Kismet / George Forrest -- [Track 7]. Come paride vezzoso from L\u27elisir d\u27amore / Gaetano Donizetti Questo amor, vergogna mia from Edgar / Giacomo Puccini -- [Track 8]. Dein angesicht / Robert Schumann -- [Track 9]. Mai / Gabriel Faure -- [Track 10]. Ganymed / Franz Schubert -- [Track 11]. The sound of music from The sound of music / Richard Rodgers Oscar Hammerstein II -- [Track 12]. Après un rève / Faure -- [Track 13]. Steal me, sweet thief from The old main and the thief / Fian Carlo Menotti -- [Track 14]. Four encore songs / Florence Price -- [Track 15]. Morire / Puccini -- [Track 16]. Come scoglio from Cosi fan tutte / Mozart
Concert recording 2017-10-02
[Track 1]. Amarilli bella / Giulio Caccini -- [Track 2]. El sueño imposible from Man of La Mancha / Joe Darion -- [Track 3]. An Sylvia / Franz Schubert -- [Track 4]. O Isis und Osiris / Wolfgang Amadeus Mozart -- [Track 5]. Apres un reve / Gabriel Fauré -- [Track 6]. Dido\u27s lament from Dido and Aeneas / Henry Purcell -- [Track 7]. This in my beloved from Kismet / Robert Wright -- [Track 8]. Heidenröslein / Franz Schubert -- [Track 9]. Lord God of Abraham from Elijah / Felix Mendelssohn -- [Track 10]. Lieben, hassen, hoffen, sagen / Richard Strauss -- [Track 11]. Auch kleine Dinge from Italienischers Liederbuch / Hugo Wolf -- [Track 12]. Saper vorreste from Un ballo in maschera / Giuseppe Verdi -- [Track 13]. Ombra mai fu from Xerxes / George Frideric Handel -- [Track 14]. You\u27ll never walk alone from Carousel / Richard Rodgers and Oscar Hammerstein II -- [Track 15]. Les berceaux / Fauré -- [Track 16]. I remember from Evening primrose / Stephen Sondheim -- [Track 17]. Vaghissima sembianza / Stefano Donaudy -- [Track 18]. Moonfall from The mystery of Edwin Drood / Rupert Holmes -- [Track 19]. Stranger in paradise from Kismet / Robert Wright and George Forrest -- [Track 20]. Morire / Giacomo Puccini -- [Track 21]. Sorge infausta una procella from Orlando / Handel -- [Track 22]. Vi ravviso from La sonnambula / Vincenzo Bellini
Concert recording 2016-02-04
[Track 01]. Der Schmetterling / Franz Schubert -- [Track 02]. Moonshine lullaby from Annie get your gun / Irving Berlin -- [Track 03]. Voi, che sapete from Le Nozze di Figaro / Wolfgang Amadeus Mozart -- [Track 04]. Barcarolle from Les contes d\u27Hoffman / Jacques Offenbach -- [Track 05]. A maiden fair to see from H.M.S. Pinafore / Gilbert and Sullivan -- [Track 06]. Im wunderschönen Monat Mai from Dichterliebe / Robert Schumann -- [Track 07]. L\u27heure exquise / Reynaldo Hahn -- [Track 08]. And this is my beloved from Kismet / Wright ; Forest -- [Track 09]. Wenn mein Schatz Hochzeit macht from Lieder eines fahrenden Gesellen / Gustav Mahler -- [Track 10]. Va! Laisse couler mes larmes from Werther / Jules Massenet -- [Track 11]. Give me Jesus / traditional ; arranged by Moses Hogan -- [Track 12]. Il lacerato spirito from Simon Boccanegra / Giuseppe Verdi -- [Track 13]. Giunse alfin il momento...Deh viene, non tardar from Le nozze di Figaro / Wolfgang Amadeus Mozart -- [Track 14]. St. Ita\u27s vision from Hermit songs / Samuel Barber -- [Track 15]. Adele\u27s audition aria from Die Fledermaus / Johann Strauss -- [Track 16]. A part of that from The last five years / Jason Robert Brown -- [Track 17]. Two for the road / Henry Mancini -- [Track 18]. Nel cor piu non mi sento / Giovanni Paisiello -- [Track 19]. Love\u27s minstrels from The house of life / Ralph Vaughan-Williams -- [Track 20]. Der stürmische Morgen / Franz Schubert -- [Track 21]. Die Lotosblume / Robert Schumann -- [Track 22]. Nothing from A chorus line / Hammlisch ; Kleban -- [Track 23]. Spiel auf deiner Geige / Robert Stolz
Concert recording 2017-04-27
[Track 1]. Adoramus te, Christe / Giovanni Pierluigi da Palestrina -- [Track 2]. Ubi caritas / Maurice Duruflé -- [Track 3]. Three Hungarian folk songs. I. The handsome butcher II. Apple, apple III. The old woman / Matyas Seiber -- [Track 4]. He watching over Israel from Elijah / Felix Mendelssohn Bartholdy -- [Track 5]. Ain\u27t got time to die / Hall Johnson
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies. However, among RASopathies, the matrix of genotype-phenotype relationships is still incomplete, in part because there are many RAS-related proteins and in part because the phenotypic consequences may be variable and/or pleiotropic. Here, we describe a cohort of ten cases, drawn from six clinical sites and over 16,000 sequenced probands, with de novo protein-altering variation in RALA, a RAS-like small GTPase. All probands present with speech and motor delays, and most have intellectual disability, low weight, short stature, and facial dysmorphism. The observed rate of de novo RALA variants in affected probands is significantly higher (p = 4.93 x 10(-11)) than expected from the estimated random mutation rate. Further, all de novo variants described here affect residues within the GTP/GDP-binding region of RALA; in fact, six alleles arose at only two codons, Val25 and Lys128. The affected residues are highly conserved across both RAL- and RAS-family genes, are devoid of variation in large human population datasets, and several are homologous to positions at which disease-associated variants have been observed in other GTPase genes. We directly assayed GTP hydrolysis and RALA effector-protein binding of the observed variants, and found that all but one tested variant significantly reduced both activities compared to wild-type. The one exception, S157A, reduced GTP hydrolysis but significantly increased RALA-effector binding, an observation similar to that seen for oncogenic RAS variants. These results show the power of data sharing for the interpretation and analysis of rare variation, expand the spectrum of molecular causes of developmental disability to include RALA, and provide additional insight into the pathogenesis of human disease caused by mutations in small GTPases