Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates von Al-Shamsi, Aisha, Hertecant, Jozef L, Souid, Abdul-Kader, Al-Jasmi, Fatma A

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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation von Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E H, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T A, van den Bogaart, Geert, van Hijum, Sacha A F T, Rodenburg, Richard, van den Heuvel, Lambertus P, van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, van Scherpenzeel, Monique, Lefeber, Dirk J, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude

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Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy von Baertling, Fabian, A.M. van den Brand, Mariel, Hertecant, Jozef L., Al-Shamsi, Aisha, P. van den Heuvel, Lambert, Distelmaier, Felix, Mayatepek, Ertan, Smeitink, Jan A., Nijtmans, Leo G.J., Rodenburg, Richard J.T.

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Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy von Abbasi‐Moheb, Lia, Westenberger, Ana, Alotaibi, Maha, Alghamdi, Malak Ali, Hertecant, Jozef L., Ariamand, Amir, Beetz, Christian, Rolfs, Arndt, Bertoli‐Avella, Aida M., Bauer, Peter

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Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia von Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger, Sheila, Cohn, Daniel H., Krakow, Deborah, Swanson, James M., Faustman, Elaine M., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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On the phenotypic spectrum of serine biosynthesis defects von El-Hattab, Ayman W., Shaheen, Ranad, Hertecant, Jozef, Galadari, Hassan I., Albaqawi, Badi S., Nabil, Amira, Alkuraya, Fowzan S.

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MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects von El‐Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh, Mohammed A. M., Faqeih, Eissa A., Alzaidan, Hamad I., Alshenqiti, Abduljabbar, Flore, Leigh Anne, Hertecant, Jozef, Sacharow, Stephanie, Barbouth, Deborah S., Murayama, Kei, Shah, Amit A., Lin, Henry C., Wong, Lee‐Jun C.

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Untreated PKU Patients without Intellectual Disability: What Do They Teach Us? von van Vliet, Danique, van Wegberg, Annemiek M J, Ahring, Kirsten, Bik-Multanowski, Miroslaw, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Hertecant, Jozef L, Leuzzi, Vincenzo, Mathisen, Per, Nardecchia, Francesca, Powell, Kimberly K, Rutsch, Frank, Stojiljkovic, Maja, Trefz, Fritz K, Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D, Hanley, William B, van Spronsen, Francjan J

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Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients von Al Mutairi, Fuad, Alfadhel, Majid, Nashabat, Marwan, El-Hattab, Ayman W., Ben-Omran, Tawfeg, Hertecant, Jozef, Eyaid, Wafaa, Ali, Rehab, Alasmari, Ali, Kara, Majdi, Al-Twaijri, Waleed, Filimban, Rana, Alshenqiti, Abduljabbar, Al-Owain, Mohammed, Faqeih, Eissa, Alkuraya, Fowzan S.

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Case Report: Reinterpretation and Reclassification of ARSB :p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene von Al Dhahouri, Nahid, Ali, Amanat, Hertecant, Jozef, Al-Jasmi, Fatma

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De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy von Stringer, Robin N, Jurkovicova-Tarabova, Bohumila, Souza, Ivana A, Ibrahim, Judy, Vacik, Tomas, Fathalla, Waseem Mahmoud, Hertecant, Jozef, Zamponi, Gerald W, Lacinova, Lubica, Weiss, Norbert

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Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A Study from Tawam Hospital Metabolic Center , United Arab Emirates von Hertecant , Jozef L, Al-Shamsi , Aisha, Al-Hamad , Sania, Souid , Abdul-Kader, Al-Jasmi , Fatma

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Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases von Al Jasmi, Fatma, Al Zaabi, Nuha, Al-Thihli, Khalid, Al Teneiji, Amal M, Hertecant, Jozef, El-Hattab, Ayman W

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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome von Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth

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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay von Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh

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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement von Akawi, Nadia A, Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R, Al-Gazali, Lihadh

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Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1 von Grammatikopoulos, Tassos, Hadzic, Nedim, Foskett, Pierre, Strautnieks, Sandra, Samyn, Marianne, Vara, Roshni, Dhawan, Anil, Hertecant, Jozef, Al Jasmi, Fatma, Rahman, Obydur, Deheragoda, Maesha, Bull, Laura N., Thompson, Richard J

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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome von Cuvertino Sara, Hartill Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali Lihadh, Canham, Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat Fatima, Narasimhan, Vagheesh M, Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel David, Venuto Santina, Weisberg, Daniel, Stals, Karen, Ellard Sian, Barton, Anne, Kimber, Susan J, Sheridan, Eamonn, Merla Giuseppe, Stevens, Adam, Johnson, Colin A, Banka Siddharth

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Can untreated PKU patients escape from intellectual disability? A systematic review von van Vliet, Danique, van Wegberg, Annemiek M J, Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L, Hollak, Carla E M, Jørgensen, Jens V, Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö, Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K, Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K, Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D, Hanley, William B, van Spronsen, Francjan J

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A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins von Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Al-Zaabi, Olfat, Fathallah, Waseem, Cui, Hong, Yang, Yaping, Eng, Christine M, Al Sorkhy, Mohammad, Ghattas, Mohammad A, Al-Gazali, Lihadh, Ali, Bassam R

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