Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Abou Jamra, Rami
Published in European journal of human genetics : EJHG (01.05.2021)
Published in European journal of human genetics : EJHG (01.05.2021)
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Journal Article
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou
Published in European journal of human genetics : EJHG (01.03.2021)
Published in European journal of human genetics : EJHG (01.03.2021)
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Journal Article
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
Zacher, Pia, Mayer, Thomas, Brandhoff, Frank, Bartolomaeus, Tobias, Le Duc, Diana, Finzel, Martin, Heinze, Anja, Horn, Susanne, Klöckner, Chiara, Körber, Gudrun, Hentschel, Julia, Kalita, Malgorzata, Krey, Ilona, Nastainczyk-Wulf, Marina, Platzer, Konrad, Rebstock, Johannes, Popp, Bernt, Stiller, Mathias, Teichmann, Anne-Christin, Jamra, Rami Abou, Lemke, Johannes R.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Journal Article
Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
Lieberwirth, Johann Kaspar, Joset, Pascal, Heinze, Anja, Hentschel, Julia, Stein, Anja, Iannaccone, Antonella, Steindl, Katharina, Kuechler, Alma, Jamra, Rami Abou
Published in European journal of human genetics : EJHG (01.05.2021)
Published in European journal of human genetics : EJHG (01.05.2021)
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Journal Article
KDM5A mutations identified in autism spectrum disorder using forward genetics
El Hayek, Lauretta, Tuncay, Islam Oguz, Nijem, Nadine, Russell, Jamie, Ludwig, Sara, Kaur, Kiran, Li, Xiaohong, Anderton, Priscilla, Tang, Miao, Gerard, Amanda, Heinze, Anja, Zacher, Pia, Alsaif, Hessa S, Rad, Aboulfazl, Hassanpour, Kazem, Abbaszadegan, Mohammad Reza, Washington, Camerun, DuPont, Barbara R, Louie, Raymond J, Couse, Madeline, Faden, Maha, Rogers, R Curtis, Abou Jamra, Rami, Elias, Ellen R, Maroofian, Reza, Houlden, Henry, Lehman, Anna, Beutler, Bruce, Chahrour, Maria H
Published in eLife (22.12.2020)
Published in eLife (22.12.2020)
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Journal Article
The complete genome sequence of a Neanderthal from the Altai Mountains
Prüfer, Kay, Racimo, Fernando, Patterson, Nick, Jay, Flora, Sankararaman, Sriram, Sawyer, Susanna, Heinze, Anja, Renaud, Gabriel, Sudmant, Peter H., de Filippo, Cesare, Li, Heng, Mallick, Swapan, Dannemann, Michael, Fu, Qiaomei, Kircher, Martin, Kuhlwilm, Martin, Lachmann, Michael, Meyer, Matthias, Ongyerth, Matthias, Siebauer, Michael, Theunert, Christoph, Tandon, Arti, Moorjani, Priya, Pickrell, Joseph, Mullikin, James C., Vohr, Samuel H., Green, Richard E., Hellmann, Ines, Johnson, Philip L. F., Blanche, Hélène, Cann, Howard, Kitzman, Jacob O., Shendure, Jay, Eichler, Evan E., Lein, Ed S., Bakken, Trygve E., Golovanova, Liubov V., Doronichev, Vladimir B., Shunkov, Michael V., Derevianko, Anatoli P., Viola, Bence, Slatkin, Montgomery, Reich, David, Kelso, Janet, Pääbo, Svante
Published in Nature (London) (02.01.2014)
Published in Nature (London) (02.01.2014)
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Reconstructing Prehistoric African Population Structure
Skoglund, Pontus, Thompson, Jessica C., Prendergast, Mary E., Mittnik, Alissa, Sirak, Kendra, Hajdinjak, Mateja, Salie, Tasneem, Rohland, Nadin, Mallick, Swapan, Peltzer, Alexander, Heinze, Anja, Olalde, Iñigo, Ferry, Matthew, Harney, Eadaoin, Michel, Megan, Stewardson, Kristin, Cerezo-Román, Jessica I., Chiumia, Chrissy, Crowther, Alison, Gomani-Chindebvu, Elizabeth, Gidna, Agness O., Grillo, Katherine M., Helenius, I. Taneli, Hellenthal, Garrett, Helm, Richard, Horton, Mark, López, Saioa, Mabulla, Audax Z.P., Parkington, John, Shipton, Ceri, Thomas, Mark G., Tibesasa, Ruth, Welling, Menno, Hayes, Vanessa M., Kennett, Douglas J., Ramesar, Raj, Meyer, Matthias, Pääbo, Svante, Patterson, Nick, Morris, Alan G., Boivin, Nicole, Pinhasi, Ron, Krause, Johannes, Reich, David
Published in Cell (21.09.2017)
Published in Cell (21.09.2017)
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Patterns of coding variation in the complete exomes of three Neandertals
Castellano, Sergi, Parra, Genís, Sánchez-Quinto, Federico A., Racimo, Fernando, Kuhlwilm, Martin, Kircher, Martin, Sawyer, Susanna, Fu, Qiaomei, Heinze, Anja, Nickel, Birgit, Dabney, Jesse, Siebauer, Michael, White, Louise, Burbano, Hernán A., Renaud, Gabriel, Stenzel, Udo, Lalueza-Fox, Carles, de la Rasilla, Marco, Rosas, Antonio, Rudan, Pavao, Brajković, Dejana, Kucan, Željko, Gušic, Ivan, Shunkov, Michael V., Derevianko, Anatoli P., Viola, Bence, Meyer, Matthias, Kelso, Janet, Andrés, Aida M., Pääbo, Svante
Published in Proceedings of the National Academy of Sciences - PNAS (06.05.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (06.05.2014)
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Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review
Gburek‐Augustat, Janina, Heinze, Anja, Abou Jamra, Rami, Merkenschlager, Andreas
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2020)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2020)
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First ancient mitochondrial human genome from a prepastoralist southern African
Morris, Alan G, Heinze, Anja, Chan, Eva K F, Smith, Andrew B, Hayes, Vanessa M
Published in Genome biology and evolution (01.10.2014)
Published in Genome biology and evolution (01.10.2014)
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Journal Article
The complete genome sequence of a Neandertal from the Altai Mountains
Prüfer, Kay, Racimo, Fernando, Patterson, Nick, Jay, Flora, Sankararaman, Sriram, Sawyer, Susanna, Heinze, Anja, Renaud, Gabriel, Sudmant, Peter H., de Filippo, Cesare, Li, Heng, Mallick, Swapan, Dannemann, Michael, Fu, Qiaomei, Kircher, Martin, Kuhlwilm, Martin, Lachmann, Michael, Meyer, Matthias, Ongyerth, Matthias, Siebauer, Michael, Theunert, Christoph, Tandon, Arti, Moorjani, Priya, Pickrell, Joseph, Mullikin, James C., Vohr, Samuel H., Green, Richard E., Hellmann, Ines, Johnson, Philip L. F., Blanche, Hélène, Cann, Howard, Kitzman, Jacob O., Shendure, Jay, Eichler, Evan E., Lein, Ed S., Bakken, Trygve E., Golovanova, Liubov V., Doronichev, Vladimir B., Shunkov, Michael V., Derevianko, Anatoli P., Viola, Bence, Slatkin, Montgomery, Reich, David, Kelso, Janet, Pääbo, Svante
Published in Nature (London) (18.12.2013)
Published in Nature (London) (18.12.2013)
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