Genetic regulatory variation in populations informs transcriptome analysis in rare disease
Mohammadi, Pejman, Castel, Stephane E, Cummings, Beryl B, Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A Reghan, Wheeler, Heather E, Im, Hae Kyung, Bonnemann, Carsten G, MacArthur, Daniel G, Lappalainen, Tuuli
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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Journal Article
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Morales Saute, Jonas A, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, Hornemann, Thorsten
Published in The Journal of clinical investigation (15.09.2022)
Published in The Journal of clinical investigation (15.09.2022)
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Journal Article
Anti–3‐hydroxy‐3‐methylglutaryl‐coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child
Mohassel, Payam, Foley, A. Reghan, Donkervoort, Sandra, Fequiere, Pierre R., Pak, Katherine, Bönnemann, Carsten G., Mammen, Andrew L.
Published in Muscle & nerve (01.12.2017)
Published in Muscle & nerve (01.12.2017)
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Journal Article
Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling
Pham, Hai T., Kram, Vardit, Dar, Qurratul-Ain, Komori, Taishi, Ji, Youngmi, Mohassel, Payam, Rooney, Jachinta, Li, Li, Kilts, Tina M., Bonnemann, Carsten, Lamande, Shireen, Young, Marian F.
Published in Scientific reports (13.08.2020)
Published in Scientific reports (13.08.2020)
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Journal Article
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
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Journal Article
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3
Colasanto, Mary P, Eyal, Shai, Mohassel, Payam, Bamshad, Michael, Bonnemann, Carsten G, Zelzer, Elazar, Moon, Anne M, Kardon, Gabrielle
Published in Disease models & mechanisms (01.11.2016)
Published in Disease models & mechanisms (01.11.2016)
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Journal Article
Hypoglycemia in patients with congenital muscle disease
Hayes, Leslie H, Yun, Pomi, Mohassel, Payam, Norato, Gina, Donkervoort, Sandra, Leach, Meganne E, Alvarez, Rachel, Rutkowski, Anne, Shaw, Natalie D, Foley, A Reghan, Bönnemann, Carsten G
Published in BMC pediatrics (06.02.2020)
Published in BMC pediatrics (06.02.2020)
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Journal Article
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications
Geist Hauserman, Janelle, Laverty, Chamindra G., Donkervoort, Sandra, Hu, Ying, Silverstein, Sarah, Neuhaus, Sarah B., Saade, Dimah, Vaughn, Gabrielle, Malicki, Denise, Kaur, Rupleen, Li, Yuesheng, Luo, Yan, Liu, Poching, Burr, Patrick, Foley, A. Reghan, Mohassel, Payam, Bönnemann, Carsten G.
Published in HGG advances (11.04.2024)
Published in HGG advances (11.04.2024)
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Journal Article
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies
Guadagnin, Eleonora, Mohassel, Payam, Johnson, Kory R., Yang, Lin, Santi, Mariarita, Uapinyoying, Prech, Dastgir, Jahannaz, Hu, Ying, Dillmann, Allissa, Cookson, Mark R., Foley, A. Reghan, Bönnemann, Carsten G.
Published in Annals of clinical and translational neurology (01.11.2021)
Published in Annals of clinical and translational neurology (01.11.2021)
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Journal Article
A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy
Mohassel, Payam, Yun, Pomi, Syeda, Safoora, Batra, Abhinandan, Bradley, Andrew J., Donkervoort, Sandra, Monges, Soledad, Cohen, Julie S., Leung, Doris G., Munell, Francina, Ortez, Carlos, Sánchez‐Montáñez, Angel, Karachunski, Peter, Brandsema, John, Medne, Livija, Chaudhry, Vinay, Tasca, Giorgio, Foley, A. Reghan, Udd, Bjarne, Arai, Andrew E., Walter, Glenn A., Bönnemann, Carsten G.
Published in Annals of clinical and translational neurology (01.08.2023)
Published in Annals of clinical and translational neurology (01.08.2023)
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Journal Article
Dominant collagen XII mutations cause a distal myopathy
Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.
Published in Annals of clinical and translational neurology (01.10.2019)
Published in Annals of clinical and translational neurology (01.10.2019)
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Journal Article
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Mohassel, Payam, Donkervoort, Sandra, Lone, Museer A., Nalls, Matthew, Gable, Kenneth, Gupta, Sita D., Foley, A. Reghan, Hu, Ying, Saute, Jonas Alex Morales, Moreira, Ana Lucila, Kok, Fernando, Introna, Alessandro, Logroscino, Giancarlo, Grunseich, Christopher, Nickolls, Alec R., Pourshafie, Naemeh, Neuhaus, Sarah B., Saade, Dimah, Gangfuß, Andrea, Kölbel, Heike, Piccus, Zoe, Le Pichon, Claire E., Fiorillo, Chiara, Ly, Cindy V., Töpf, Ana, Brady, Lauren, Specht, Sabine, Zidell, Aliza, Pedro, Helio, Mittelmann, Eric, Thomas, Florian P., Chao, Katherine R., Konersman, Chamindra G., Cho, Megan T., Brandt, Tracy, Straub, Volker, Connolly, Anne M., Schara, Ulrike, Roos, Andreas, Tarnopolsky, Mark, Höke, Ahmet, Brown, Robert H., Lee, Chia-Hsueh, Hornemann, Thorsten, Dunn, Teresa M., Bönnemann, Carsten G.
Published in Nature medicine (01.07.2021)
Published in Nature medicine (01.07.2021)
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Journal Article
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Saute, Jonas A Morales, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, Hornemann, Thorsten
Published in The Journal of clinical investigation (01.09.2022)
Published in The Journal of clinical investigation (01.09.2022)
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Journal Article