Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease
Rus, Corina-Marcela, Polla, Daniel L, Di Bucchianico, Sebastiano, Fischer, Steffen, Hartkamp, Jörg, Hartmann, Guido, Alpagu, Yunus, Cozma, Claudia, Zimmermann, Ralf, Bauer, Peter
Published in Scientific reports (29.10.2023)
Published in Scientific reports (29.10.2023)
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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders
Polla, Daniel L, Cardoso, Maria T O, Silva, Mayara C B, Cardoso, Isabela C C, Medina, Cristina T N, Araujo, Rosenelle, Fernandes, Camila C, Reis, Alessandra M M, de Andrade, Rosangela V, Pereira, Rinaldo W, Pogue, Robert
Published in PloS one (18.09.2015)
Published in PloS one (18.09.2015)
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A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
Polla, Daniel L., Saunders, Harriet R., Vries, Bert B. A., Bokhoven, Hans, Brouwer, Arjan P. M.
Published in Molecular genetics & genomic medicine (01.10.2019)
Published in Molecular genetics & genomic medicine (01.10.2019)
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Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly
Richard, Elodie M., Polla, Daniel L., Assir, Muhammad Zaman, Contreras, Minerva, Shahzad, Mohsin, Khan, Asma A., Razzaq, Attia, Akram, Javed, Tarar, Moazzam N., Blanpied, Thomas A., Ahmed, Zubair M., Abou Jamra, Rami, Wieczorek, Dagmar, van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
Published in American journal of human genetics (03.10.2019)
Published in American journal of human genetics (03.10.2019)
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Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
de Brouwer, Arjan P.M., Abou Jamra, Rami, Körtel, Nadine, Soyris, Clara, Polla, Daniel L., Safra, Modi, Zisso, Avia, Powell, Christopher A., Rebelo-Guiomar, Pedro, Dinges, Nadja, Morin, Violeta, Stock, Michael, Hussain, Mureed, Shahzad, Mohsin, Riazuddin, Saima, Ahmed, Zubair M., Pfundt, Rolph, Schwarz, Franziska, de Boer, Lonneke, Reis, André, Grozeva, Detilina, Raymond, F. Lucy, Riazuddin, Sheikh, Koolen, David A., Minczuk, Michal, Roignant, Jean-Yves, van Bokhoven, Hans, Schwartz, Schraga
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Journal Article
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Polla, Daniel L, Rahikkala, Elisa, Bode, Michaela K, Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K, Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P M, Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma
Published in European journal of human genetics : EJHG (01.08.2019)
Published in European journal of human genetics : EJHG (01.08.2019)
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Journal Article
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
Polla, Daniel L., Farazi Fard, Mohammad Ali, Tabatabaei, Zahra, Habibzadeh, Parham, Levchenko, Olga A., Nikuei, Pooneh, Makrythanasis, Periklis, Hussain, Mureed, von Hardenberg, Sandra, Zeinali, Sirous, Fallah, Mohammad-Sadegh, Schuurs-Hoeijmakers, Janneke H.M., Shahzad, Mohsin, Fatima, Fareeha, Fatima, Neelam, Kaat, Laura Donker, Bruggenwirth, Hennie T., Fleming, Leah R., Condie, John, Ploski, Rafal, Pollak, Agnieszka, Pilch, Jacek, Demina, Nina A., Chukhrova, Alena L., Sergeeva, Vasilina S., Venselaar, Hanka, Masri, Amira T., Hamamy, Hanan, Santoni, Federico A., Linda, Katrin, Ahmed, Zubair M., Nadif Kasri, Nael, de Brouwer, Arjan P.M., Bergmann, Anke K., Hethey, Sven, Yavarian, Majid, Ansar, Muhammad, Riazuddin, Saima, Riazuddin, Sheikh, Silawi, Mohammad, Ruggeri, Gaia, Pirozzi, Filomena, Eftekhar, Ebrahim, Taghipour Sheshdeh, Afsaneh, Bahramjahan, Shima, Mirzaa, Ghayda M., Lavrov, Alexander V., Antonarakis, Stylianos E., Faghihi, Mohammad Ali, van Bokhoven, Hans
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Polla, Daniel L, Rahikkala, Elisa, Bode, Michaela K, Määttä, Tuomo, Varilo, Teppo, Loman, Thyrza, Philips, Anju K, Kurki, Mitja, Palotie, Aarno, Körkkö, Jarmo, Vieira, Päivi, Avela, Kristiina, Jacquemin, Valérie, Pirson, Isabelle, Abramowicz, Marc, de Brouwer, Arjan P M, Kuismin, Outi, van Bokhoven, Hans, Järvelä, Irma
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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Journal Article
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.
Published in American journal of human genetics (02.07.2020)
Published in American journal of human genetics (02.07.2020)
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Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders: e0138314
Polla, Daniel L, Cardoso, Maria TO, Silva, Mayara CB, Cardoso, Isabela CC, Medina, Cristina TN, Araujo, Rosenelle, Fernandes, Camila C, Reis, Alessandra MM, Andrade, Rosangela Vde, Pereira, Rinaldo W
Published in PloS one (01.09.2015)
Published in PloS one (01.09.2015)
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