Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy von Kodal, Louise Sloth, Hammer-Hansen, Sophia, Holm-Yildiz, Sonja, Grønskov, Karen, Karstensen, Helena Gásdal, Dysgaard, Tina

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Usher syndrome in Denmark: mutation spectrum and some clinical observations von Dad, Shzeena, Rendtorff, Nanna Dahl, Tranebjærg, Lisbeth, Grønskov, Karen, Karstensen, Helena Gásdal, Brox, Vigdis, Nilssen, Øivind, Roux, Anne‐Françoise, Rosenberg, Thomas, Jensen, Hanne, Møller, Lisbeth Birk

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Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients von Rendtorff, Nanna Dahl, Karstensen, Helena Gásdal, Lodahl, Marianne, Tolmie, John, McWilliam, Catherine, Bak, Mads, Tommerup, Niels, Nazaryan-Petersen, Lusine, Kunst, Henricus, Wong, Melanie, Joss, Shelagh, Carelli, Valerio, Tranebjærg, Lisbeth

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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA von Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

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Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth von Schönewolf-Greulich, Bitten, Karstensen, Helena Gásdal, Hjortshøj, Tina D., Jørgensen, Finn Stener, Harder, Katja M., Frevert, Susanne, Hove, Hanne, Diness, Birgitte R.

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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia von Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane‐Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh‐Lough, Hana, Tran‐Mau‐Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, Sainte Agathe, Jean‐Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.

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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark von Lildballe, Dorte L, Frederiksen, Anja Lisbeth, Schönewolf-Greulich, Bitten, Brasch-Andersen, Charlotte, Lautrup, Charlotte Kvist, Karstensen, Helena Gásdal, Pedersen, Inge Søkilde, Sunde, Lone, Risom, Lotte, Rasmussen, Maria, Bertelsen, Mette, Andersen, Mette Klarskov, Rendtorff, Nanna Dahl, Gregersen, Pernille Axél, Tørring, Pernille M, Hammer-Hansen, Sophia, Boonen, Susanne E, Lindquist, Suzanne Granhøj, Hammer, Trine Bjørg, Diness, Birgitte R

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Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome von Karstensen, Helena Gásdal, Rendtorff, Nanna Dahl, Hindbæk, Lone Sandbjerg, Colombo, Roberto, Stein, Amelie, Birkebæk, Niels Holtum, Hartmann-Petersen, Rasmus, Lindorff-Larsen, Kresten, Højland, Allan Thomas, Petersen, Michael Bjørn, Tranebjærg, Lisbeth

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Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions von Karstensen, Helena Gásdal, Vestergaard, Martin, Baaré, William F. C., Skimminge, Arnold, Djurhuus, Bjarki, Ellefsen, Bjarki, Brüggemann, Norbert, Klausen, Camilla, Leffers, Anne-Mette, Tommerup, Niels, Siebner, Hartwig R.

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Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA von Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia von Lines, Matthew A, Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gasdal, Anyane-Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh-Lough, Hana, Tran-Mau-Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, Agathe, Jean-Madeleine de Sainte, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects von Manole, Andreea, Efthymiou, Stephanie, O’Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry

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Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy von Kodal, Louise Sloth, Hammer-Hansen, Sophia, Holm-Yildiz, Sonja, Grønskov, Karen, Karstensen, Helena Gásdal, Dysgaard, Tina

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Additional file 2 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA von Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

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