mitOmics

Publications

2018

Braunisch, M.C., Gallwitz, H., Abicht, A., Diebold, I., Holinski-Feder, E., Van Maldergem, L., Lammens, M., Kovács-Nagy, R., Alhaddad, B., Strom, T.M., Meitinger, T., Senderek, J., Rudnik-Schöneborn, S., Haack, T.B., 2018. Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Clin. Genet. 93, 255–265. doi.org/10.1111/cge.13084

Charif, M., Nasca, A., Thompson, K., Gerber, S., Makowski, C., Mazaheri, N., Bris, C., Goudenège, D., Legati, A., Maroofian, R., Shariati, G., Lamantea, E., Hopton, S., Ardissone, A., Moroni, I., Giannotta, M., Siegel, C., Strom, T.M., Prokisch, H., Vignal-Clermont, C., Derrien, S., Zanlonghi, X., Kaplan, J., Hamel, C.P., Leruez, S., Procaccio, V., Bonneau, D., Reynier, P., White, F.E., Hardy, S.A., Barbosa, I.A., Simpson, M.A., Vara, R., Perdomo Trujillo, Y., Galehdari, H., Deshpande, C., Haack, T.B., Rozet, J.-M., Taylor, R.W., Ghezzi, D., Amati-Bonneau, P., Lenaers, G., 2018. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. JAMA Neurol 75, 105–113. doi.org/10.1001/jamaneurol.2017.2065

Lenz, D., McClean, P., Kansu, A., Bonnen, P.E., Ranucci, G., Thiel, C., Straub, B.K., Harting, I., Alhaddad, B., Dimitrov, B., Kotzaeridou, U., Wenning, D., Iorio, R., Himes, R.W., Kuloğlu, Z., Blakely, E.L., Taylor, R.W., Meitinger, T., Kölker, S., Prokisch, H., Hoffmann, G.F., Haack, T.B., Staufner, C., 2018. SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet. Med. doi.org/10.1038/gim.2017.260

Puusepp, S., Kovacs-Nagy, R., Alhaddad, B., Braunisch, M., Hoffmann, G.F., Kotzaeridou, U., Lichvarova, L., Liiv, M., Makowski, C., Mandel, M., Meitinger, T., Pajusalu, S., Rodenburg, R.J., Safiulina, D., Strom, T.M., Talvik, I., Vaarmann, A., Wilson, C., Kaasik, A., Haack, T.B., Õunap, K., 2018. Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. Eur. J. Hum. Genet. 26, 407–419. doi.org/10.1038/s41431-017-0001-6

Roeben, B., Schüle, R., Ruf, S., Bender, B., Alhaddad, B., Benkert, T., Meitinger, T., Reich, S., Böhringer, J., Langhans, C.-D., Vaz, F.M., Wortmann, S.B., Marquardt, T., Haack, T.B., Krägeloh-Mann, I., Schöls, L., Synofzik, M., 2018. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J. Med. Genet. 55, 39–47. doi.org/10.1136/jmedgenet-2017-104622

2017

Ait-El-Mkadem, S., Dayem-Quere, M., Gusic, M., Chaussenot, A., Bannwarth, S., François, B., Genin, E.C., Fragaki, K., Volker-Touw, C.L.M., Vasnier, C., Serre, V., van Gassen, K.L.I., Lespinasse, F., Richter, S., Eisenhofer, G., Rouzier, C., Mochel, F., De Saint-Martin, A., Abi Warde, M.-T., de Sain-van der Velde, M.G.M., Jans, J.J.M., Amiel, J., Avsec, Z., Mertes, C., Haack, T.B., Strom, T., Meitinger, T., Bonnen, P.E., Taylor, R.W., Gagneur, J., van Hasselt, P.M., Rötig, A., Delahodde, A., Prokisch, H., Fuchs, S.A., Paquis-Flucklinger, V., 2017. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Am. J. Hum. Genet. 100, 151–159. doi.org/10.1016/j.ajhg.2016.11.014

Bublitz, S.K., Alhaddad, B., Synofzik, M., Kuhl, V., Lindner, A., Freiberg, C., Schmidt, H., Strom, T.M., Haack, T.B., Deschauer, M., 2017. Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Clin. Genet. 92, 561–562. doi.org/10.1111/cge.13069

Calvo, P.L., Tandoi, F., Haak, T.B., Brunati, A., Pinon, M., Olio, D.D., Romagnoli, R., Spada, M., 2017. NBAS mutations cause acute liver failure: when acetaminophen is not a culprit. Ital J Pediatr 43, 88. doi.org/10.1186/s13052-017-0406-4

Carecchio, M., Picillo, M., Valletta, L., Elia, A.E., Haack, T.B., Cozzolino, A., Vitale, A., Garavaglia, B., Iuso, A., Bagella, C.F., Pappatà, S., Barone, P., Prokisch, H., Romito, L., Tiranti, V., 2017. Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. Neurogenetics 18, 175–178. doi.org/10.1007/s10048-017-0518-4

Charif, M., Nasca, A., Thompson, K., Gerber, S., Makowski, C., Mazaheri, N., Bris, C., Goudenège, D., Legati, A., Marrofian, R., Shariati, G., Lamantea, E., Hopton, S., Ardissone, A., Moroni, I., Giannotta, M., Siegel, C., Strom, T.M., Prokisch, H., Vignal-Clermont, C., Derrien, S., Zanlonghi, X., Kaplan, J., Hamel, C.P., Leruez, S., Procaccio, V., Bonneau, D., Reynier, P., White, F.E., Hardy, S.A., Barbosa, I.A., Simpson, M.A., Vara, R., Perdomo Trujillo, Y., Galehdari, H., Deshpande, C., Haack, T.B., Rozet, J.-M., Taylor, R.W., Ghezzi, D., Amati-Bonneau, P., Lenaers, G., 2017. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. JAMA Neurol. doi.org/10.1001/jamaneurol.2017.2065

Glasgow, R.I.C., Thompson, K., Barbosa, I.A., He, L., Alston, C.L., Deshpande, C., Simpson, M.A., Morris, A.A.M., Neu, A., Löbel, U., Hall, J., Prokisch, H., Haack, T.B., Hempel, M., McFarland, R., Taylor, R.W., 2017. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics. doi.org/10.1007/s10048-017-0526-4

Habarou, F., Hamel, Y., Haack, T.B., Feichtinger, R.G., Lebigot, E., Marquardt, I., Busiah, K., Laroche, C., Madrange, M., Grisel, C., Pontoizeau, C., Eisermann, M., Boutron, A., Chrétien, D., Chadefaux-Vekemans, B., Barouki, R., Bole-Feysot, C., Nitschke, P., Goudin, N., Boddaert, N., Nemazanyy, I., Delahodde, A., Kölker, S., Rodenburg, R.J., Korenke, G.C., Meitinger, T., Strom, T.M., Prokisch, H., Rotig, A., Ottolenghi, C., Mayr, J.A., Lonlay, P. de, 2017. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. The American Journal of Human Genetics 0. doi.org/10.1016/j.ajhg.2017.07.001

Herebian, D., Alhaddad, B., Seibt, A., Schwarzmayr, T., Danhauser, K., Klee, D., Harmsen, S., Meitinger, T., Strom, T.M., Schulz, A., Mayatepek, E., Haack, T.B., Distelmaier, F., 2017. Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Eur. J. Hum. Genet. 25, 1092–1095. doi.org/10.1038/ejhg.2017.96

Koch, J., Mayr, J.A., Alhaddad, B., Rauscher, C., Bierau, J., Kovacs-Nagy, R., Coene, K.L.M., Bader, I., Holzhacker, M., Prokisch, H., Venselaar, H., Wevers, R.A., Distelmaier, F., Polster, T., Leiz, S., Betzler, C., Strom, T.M., Sperl, W., Meitinger, T., Wortmann, S.B., Haack, T.B., 2017. CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279–286. doi.org/10.1093/brain/aww300

Kremer, L.S., Bader, D.M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T.B., Graf, E., Schwarzmayr, T., Terrile, C., Koňaříková, E., Repp, B., Kastenmüller, G., Adamski, J., Lichtner, P., Leonhardt, C., Funalot, B., Donati, A., Tiranti, V., Lombes, A., Jardel, C., Gläser, D., Taylor, R.W., Ghezzi, D., Mayr, J.A., Rötig, A., Freisinger, P., Distelmaier, F., Strom, T.M., Meitinger, T., Gagneur, J., Prokisch, H., 2017. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun 8, 15824. doi.org/10.1038/ncomms15824

Röeben, B., Marquetand, J., Bender, B., Billing, H., Haack, T.B., Sanchez-Albisua, I., Schöls, L., Blom, H.J., Synofzik, M., 2017. Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function. Orphanet J Rare Dis 12, 135. doi.org/10.1186/s13023-017-0687-0

Rokicki, D., Pajdowska, M., Trubicka, J., Thong, M.-K., Ciara, E., Piekutowska-Abramczuk, D., Pronicki, M., Sikora, R., Haidar, R., Ołtarzewski, M., Jabłońska, E., Muthukumarasamy, P., Sthaneswar, P., Gan, C.-S., Krajewska-Walasek, M., Carrozzo, R., Verrigni, D., Semeraro, M., Rizzo, C., Taurisano, R., Alhaddad, B., Kovacs-Nagy, R., Haack, T.B., Dionisi-Vici, C., Pronicka, E., Wortmann, S.B., 2017. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clin. Chim. Acta 471, 95–100. doi.org/10.1016/j.cca.2017.05.023

Stricker, G., Engelhardt, A., Schulz, D., Schmid, M., Tresch, A., Gagneur, J., 2017. GenoGAM: Genome-wide generalized additive models for ChIP-seq analysis. Bioinformatics. doi.org/10.1093/bioinformatics/btx150

Wachutka, L., Gagneur, J., 2017. Measures of RNA metabolism rates: Toward a definition at the level of single bonds. Transcription 8, 75–80. doi.org/10.1080/21541264.2016.1257972

Wambach, J.A., Stettner, G.M., Haack, T.B., Writzl, K., Škofljanec, A., Maver, A., Munell, F., Ossowski, S., Bosio, M., Wegner, D.J., Shinawi, M., Baldridge, D., Alhaddad, B., Strom, T.M., Grange, D.K., Wilichowski, E., Troxell, R., Collins, J., Warner, B.B., Schmidt, R.E., Pestronk, A., Cole, F.S., Steinfeld, R., 2017. Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum. Mutat. doi.org/10.1002/humu.23297

Zacher, B., Michel, M., Schwalb, B., Cramer, P., Tresch, A., Gagneur, J., 2017. Accurate Promoter and Enhancer Identification in 127 ENCODE and Roadmap Epigenomics Cell Types and Tissues by GenoSTAN. PLoS ONE 12, e0169249. doi.org/10.1371/journal.pone.0169249

2016

Danhauser, K., Haack, T.B., Alhaddad, B., Melcher, M., Seibt, A., Strom, T.M., Meitinger, T., Klee, D., Mayatepek, E., Prokisch, H., Distelmaier, F., 2016a. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum. Metab Brain Dis. doi.org/10.1007/s11011-016-9793-2

Danhauser, K., Herebian, D., Haack, T.B., Rodenburg, R.J., Strom, T.M., Meitinger, T., Klee, D., Mayatepek, E., Prokisch, H., Distelmaier, F., 2016b. Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur. J. Hum. Genet. 24, 450–454. doi.org/10.1038/ejhg.2015.133

Eser, P., Wachutka, L., Maier, K.C., Demel, C., Boroni, M., Iyer, S., Cramer, P., Gagneur, J., 2016. Determinants of RNA metabolism in the Schizosaccharomyces pombe genome. Molecular Systems Biology 12, 857. doi.org/10.15252/msb.20156526

Gupta, S., Radhakrishnan, A., Nitin, R., Raharja-Liu, P., Lin, G., Steinmetz, L.M., Gagneur, J., Sinha, H., 2016. Meiotic Interactors of a Mitotic Gene TAO3 Revealed by Functional Analysis of its Rare Variant. G3 (Bethesda) 6, 2255–2263. doi.org/10.1534/g3.116.029900

Haack, T.B., Ignatius, E., Calvo-Garrido, J., Iuso, A., Isohanni, P., Maffezzini, C., Lönnqvist, T., Suomalainen, A., Gorza, M., Kremer, L.S., Graf, E., Hartig, M., Berutti, R., Paucar, M., Svenningsson, P., Stranneheim, H., Brandberg, G., Wedell, A., Kurian, M.A., Hayflick, S.A., Venco, P., Tiranti, V., Strom, T.M., Dichgans, M., Horvath, R., Holinski-Feder, E., Freyer, C., Meitinger, T., Prokisch, H., Senderek, J., Wredenberg, A., Carroll, C.J., Klopstock, T., 2016. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. Am. J. Hum. Genet. 99, 735–743. doi.org/10.1016/j.ajhg.2016.06.026

Holzerova, E., Danhauser, K., Haack, T.B., Kremer, L.S., Melcher, M., Ingold, I., Kobayashi, S., Terrile, C., Wolf, P., Schaper, J., Mayatepek, E., Baertling, F., Friedmann Angeli, J.P., Conrad, M., Strom, T.M., Meitinger, T., Prokisch, H., Distelmaier, F., 2016. Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346–354. doi.org/10.1093/brain/awv350

Koch, J., Feichtinger, R.G., Freisinger, P., Pies, M., Schrödl, F., Iuso, A., Sperl, W., Mayr, J.A., Prokisch, H., Haack, T.B., 2016. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J. Med. Genet. 53, 270–278. doi.org/10.1136/jmedgenet-2015-103500

Kopajtich, R., Murayama, K., Janecke, A.R., Haack, T.B., Breuer, M., Knisely, A.S., Harting, I., Ohashi, T., Okazaki, Y., Watanabe, D., Tokuzawa, Y., Kotzaeridou, U., Kölker, S., Sauer, S., Carl, M., Straub, S., Entenmann, A., Gizewski, E., Feichtinger, R.G., Mayr, J.A., Lackner, K., Strom, T.M., Meitinger, T., Müller, T., Ohtake, A., Hoffmann, G.F., Prokisch, H., Staufner, C., 2016. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am. J. Hum. Genet. 99, 414–422. doi.org/10.1016/j.ajhg.2016.05.027

Kremer, L.S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G.F., Strom, T.M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H., Haack, T.B., 2016. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358–362. doi.org/10.1016/j.ajhg.2015.12.009

La Piana, R., Cayami, F.K., Tran, L.T., Guerrero, K., van Spaendonk, R., Õunap, K., Pajusalu, S., Haack, T., Wassmer, E., Timmann, D., Mierzewska, H., Poll-Thé, B.T., Patel, C., Cox, H., Atik, T., Onay, H., Ozkınay, F., Vanderver, A., van der Knaap, M.S., Wolf, N.I., Bernard, G., 2016. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 86, 1622–1626. doi.org/10.1212/WNL.0000000000002612

Schwalb, B., Michel, M., Zacher, B., Frühauf, K., Demel, C., Tresch, A., Gagneur, J., Cramer, P., 2016. TT-seq maps the human transient transcriptome. Science 352, 1225–1228. doi.org/10.1126/science.aad9841

Staufner, C., Haack, T.B., Köpke, M.G., Straub, B.K., Kölker, S., Thiel, C., Freisinger, P., Baric, I., McKiernan, P.J., Dikow, N., Harting, I., Beisse, F., Burgard, P., Kotzaeridou, U., Lenz, D., Kühr, J., Himbert, U., Taylor, R.W., Distelmaier, F., Vockley, J., Ghaloul-Gonzalez, L., Ozolek, J.A., Zschocke, J., Kuster, A., Dick, A., Das, A.M., Wieland, T., Terrile, C., Strom, T.M., Meitinger, T., Prokisch, H., Hoffmann, G.F., 2016. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. J. Inherit. Metab. Dis. 39, 3–16. doi.org/10.1007/s10545-015-9896-7

Zech, M., Boesch, S., Maier, E.M., Borggraefe, I., Vill, K., Laccone, F., Pilshofer, V., Ceballos-Baumann, A., Alhaddad, B., Berutti, R., Poewe, W., Haack, T.B., Haslinger, B., Strom, T.M., Winkelmann, J., 2016. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am. J. Hum. Genet. 99, 1377–1387. doi.org/10.1016/j.ajhg.2016.10.010

2015

Ahting, U., Mayr, J.A., Vanlander, A.V., Hardy, S.A., Santra, S., Makowski, C., Alston, C.L., Zimmermann, F.A., Abela, L., Plecko, B., Rohrbach, M., Spranger, S., Seneca, S., Rolinski, B., Hagendorff, A., Hempel, M., Sperl, W., Meitinger, T., Smet, J., Taylor, R.W., Van Coster, R., Freisinger, P., Prokisch, H., Haack, T.B., 2015. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front Genet 6, 123. doi.org/10.3389/fgene.2015.00123

Haack, T.B., Jackson, C.B., Murayama, K., Kremer, L.S., Schaller, A., Kotzaeridou, U., de Vries, M.C., Schottmann, G., Santra, S., Büchner, B., Wieland, T., Graf, E., Freisinger, P., Eggimann, S., Ohtake, A., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Sauer, S., Memari, Y., Kolb-Kokocinski, A., Durbin, R., Hasselmann, O., Cremer, K., Albrecht, B., Wieczorek, D., Engels, H., Hahn, D., Zink, A.M., Alston, C.L., Taylor, R.W., Rodenburg, R.J., Trollmann, R., Sperl, W., Strom, T.M., Hoffmann, G.F., Mayr, J.A., Meitinger, T., Bolognini, R., Schuelke, M., Nuoffer, J.-M., Kölker, S., Prokisch, H., Klopstock, T., 2015a. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol 2, 492–509. doi.org/10.1002/acn3.189

Haack, T.B., Staufner, C., Köpke, M.G., Straub, B.K., Kölker, S., Thiel, C., Freisinger, P., Baric, I., McKiernan, P.J., Dikow, N., Harting, I., Beisse, F., Burgard, P., Kotzaeridou, U., Kühr, J., Himbert, U., Taylor, R.W., Distelmaier, F., Vockley, J., Ghaloul-Gonzalez, L., Zschocke, J., Kremer, L.S., Graf, E., Schwarzmayr, T., Bader, D.M., Gagneur, J., Wieland, T., Terrile, C., Strom, T.M., Meitinger, T., Hoffmann, G.F., Prokisch, H., 2015b. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Am. J. Hum. Genet. 97, 163–169. doi.org/10.1016/j.ajhg.2015.05.009

Hempel, M., Cremer, K., Ockeloen, C.W., Lichtenbelt, K.D., Herkert, J.C., Denecke, J., Haack, T.B., Zink, A.M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T.M., van Gassen, K.L.I., Kleefstra, T., Kubisch, C., Engels, H., Lessel, D., 2015. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. Am. J. Hum. Genet. 97, 493–500. doi.org/10.1016/j.ajhg.2015.08.003

Koch, J., Freisinger, P., Feichtinger, R.G., Zimmermann, F.A., Rauscher, C., Wagentristl, H.P., Konstantopoulou, V., Seidl, R., Haack, T.B., Prokisch, H., Ahting, U., Sperl, W., Mayr, J.A., Maier, E.M., 2015. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Orphanet J Rare Dis 10, 40. doi.org/10.1186/s13023-015-0254-5

Oláhová, M., Hardy, S.A., Hall, J., Yarham, J.W., Haack, T.B., Wilson, W.C., Alston, C.L., He, L., Aznauryan, E., Brown, R.M., Brown, G.K., Morris, A.A.M., Mundy, H., Broomfield, A., Barbosa, I.A., Simpson, M.A., Deshpande, C., Moeslinger, D., Koch, J., Stettner, G.M., Bonnen, P.E., Prokisch, H., Lightowlers, R.N., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., Taylor, R.W., 2015. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503–3519. doi.org/10.1093/brain/awv291

Powell, C.A., Kopajtich, R., D’Souza, A.R., Rorbach, J., Kremer, L.S., Husain, R.A., Dallabona, C., Donnini, C., Alston, C.L., Griffin, H., Pyle, A., Chinnery, P.F., Strom, T.M., Meitinger, T., Rodenburg, R.J., Schottmann, G., Schuelke, M., Romain, N., Haller, R.G., Ferrero, I., Haack, T.B., Taylor, R.W., Prokisch, H., Minczuk, M., 2015. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Am. J. Hum. Genet. 97, 319–328. doi.org/10.1016/j.ajhg.2015.06.011