Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

by Alrohaif, Hadil, Töpf, Ana, Evangelista, Teresinha, Lek, Monkol, McArthur, Daniel, Lochmüller, Hanns
Published 2018

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

by Yiş, Uluç, Hiz, Semra, Güneş, Sezgin, Diniz, Gülden, Baydan, Figen, Töpf, Ana, Sonmezler, Ece, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz
Published 2019

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

by Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G., Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Published 2021

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.

by Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G, Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita
Published 2021

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).

by Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Solve-RD SNV-indel working group, Solve-RD DITF-euroNMD, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F, Kölbel, Heike, Roos, Andreas, Horvath, Rita
Published 2021

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

by Estephan, Eduardo de Paula, Zambon, Antonio Alberto, Marchiori, Paulo Eurípedes, da Silva, André Macedo Serafim, Caldas, Vitor Marques, Moreno, Cristiane Araújo Martins, Reed, Umbertina Conti, Horvath, Rita, Töpf, Ana, Lochmüller, Hanns, Zanoteli, Edmar
Published 2019

Severe neurodevelopmental disease caused by a homozygous TLK2 variant.

by Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G, Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Published 2019

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

by Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, Aysenur, Horvath, Rita, Oktay, Yavuz
Published 2020

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

by Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita
Published 2020

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

by Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, Aysenur, Horvath, Rita, Oktay, Yavuz
Published 2020

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

by Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka ELM, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, de Voer, Richarda M, Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter AC, Vitobello, Antonio, Schulze-Hentrich, Julia M, Riess, Olaf, Brunner, Han G, Brookes, Anthony J, Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm, Solve-RD consortium
Published 2021

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

by Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A., Deshpande, Charu, Taylor, Robert W., Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns
Published 2020

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involve...

by Gangfuß, Andrea, Czech, Artur, Hentschel, Andreas, Münchberg, Ute, Horvath, Rita, Töpf, Ana, O'Heir, Emily, Lochmüller, Hanns, Stehling, Florian, Kiewert, Cordula, Sickmann, Albert, Kuechler, Alma, Kaiser, Frank J, Kölbel, Heike, Christiansen, Jon, Schara-Schmidt, Ulrike, Roos, Andreas
Published 2022

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

by Chaouch, Amina, Porcelli, Vito, Cox, Daniel, Edvardson, Shimon, Scarcia, Pasquale, De Grassi, Anna, Pierri, Ciro L, Cossins, Judith, Laval, Steven H, Griffin, Helen, Müller, Juliane S, Evangelista, Teresinha, Töpf, Ana, Abicht, Angela, Huebner, Angela, von der Hagen, Maja, Bushby, Kate, Straub, Volker, Horvath, Rita, Elpeleg, Orly, Palace, Jacqueline, Senderek, Jan, Beeson, David, Palmieri, Luigi, Lochmüller, Hanns
Published 2019

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

by Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A, Deshpande, Charu, Taylor, Robert W, Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Atchayaram, Nalini, Lochmüller, Hanns
Published 2019

Molecular pathophysiology of human MICU1 deficiency.

by Kohlschmidt, Nicolai, Elbracht, Miriam, Czech, Artur, Häusler, Martin, Phan, Vietxuan, Töpf, Ana, Huang, Kai-Ting, Bartok, Adam, Eggermann, Katja, Zippel, Stephanie, Eggermann, Thomas, Freier, Erik, Groß, Claudia, Lochmüller, Hanns, Horvath, Rita, Hajnóczky, György, Weis, Joachim, Roos, Andreas
Published 2021

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

by Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Paramonov, Ida, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, van der Velde, Joeri K., Vitobello, Antonio, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-de Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D. S., Polavarapu, Kiran, Cruz, Pedro M. Rodriguez, Sarkozy, Anna, Selvatici, Rita, Thompson, Rachel, Torella, Annalaura, Udd, Bjarne, Van de Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina
Published 2021

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

by Gangfuß, Andrea, Lochmüller, Hanns, Töpf, Ana, O'Heir, Emily, Horvath, Rita, Kölbel, Heike, Schweiger, Bernd, Schara-Schmidt, Ulrike, Roos, Andreas
Published 2021

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

by Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández-Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó-Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros-Facer, Virginie, Buske, Orion J, Cañada-Pallarés, Andrés, Fernández, José M, Hansson, Mats G, Horvath, Rita, Jacobsen, Julius OB, Kaliyaperumal, Rajaram, Lair-Préterre, Séverine, Licata, Luana, Lopes, Pedro, López-Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez-Jurado, Luis A, Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N, Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter AC, Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G, Lochmüller, Hanns, Beltran, Sergi
Published 2022

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.

by Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Published 2022