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389 results on '"Cappuccio, Gerarda"'

1. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Author

LaFlamme, Christy W., Rastin, Cassandra, Sengupta, Soham, Pennington, Helen E., Russ-Hall, Sophie J., Schneider, Amy L., Bonkowski, Emily S., Almanza Fuerte, Edith P., Allan, Talia J., Zalusky, Miranda Perez-Galey, Goffena, Joy, Gibson, Sophia B., Nyaga, Denis M., Lieffering, Nico, Hebbar, Malavika, Walker, Emily V., Darnell, Daniel, Olsen, Scott R., Kolekar, Pandurang, Djekidel, Mohamed Nadhir, Rosikiewicz, Wojciech, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Relator, Raissa, Lev, Dorit, Lerman-Sagie, Tally, Park, Kristen L., Alders, Marielle, Cappuccio, Gerarda, Chatron, Nicolas, Demain, Leigh, Genevieve, David, Lesca, Gaetan, Roscioli, Tony, Sanlaville, Damien, Tedder, Matthew L., Gupta, Sachin, Jones, Elizabeth A., Weisz-Hubshman, Monika, Ketkar, Shamika, Dai, Hongzheng, Worley, Kim C., Rosenfeld, Jill A., Chao, Hsiao-Tuan, Neale, Geoffrey, Carvill, Gemma L., Wang, Zhaoming, Berkovic, Samuel F., Sadleir, Lynette G., Miller, Danny E., Scheffer, Ingrid E., Sadikovic, Bekim, and Mefford, Heather C.

Published
2024
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2. De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

Author

Xu, Yuchen, Song, Rui, Perszyk, Riley E., Chen, Wenjuan, Kim, Sukhan, Park, Kristen L., Allen, James P., Nocilla, Kelsey A., Zhang, Jing, XiangWei, Wenshu, Tankovic, Anel, McDaniels, Ellington D., Sheikh, Rehan, Mizu, Ruth K., Karamchandani, Manish M., Hu, Chun, Kusumoto, Hirofumi, Pecha, Joseph, Cappuccio, Gerarda, Gaitanis, John, Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Jauss, Robin-Tobias, Lee, Hyun Kyung, Bozarth, Xiuhua, Lynch, David R., Helbig, Ingo, Pierson, Tyler Mark, Boerkoel, Cornelius F., Myers, Scott J., Lemke, Johannes R., Benke, Timothy A., Yuan, Hongjie, and Traynelis, Stephen F.

Published
2024
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3. Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Author

Carpentieri, Giovanna, Cecchetti, Serena, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Leoni, Chiara, Onesimo, Roberta, Calligari, Paolo, Pietrantoni, Agostina, Ciolfi, Andrea, Ferilli, Marco, Calderan, Cristina, Cappuccio, Gerarda, Martinelli, Simone, Messina, Elena, Caputo, Viviana, Hüffmeier, Ulrike, Mignot, Cyril, Auvin, Stéphane, Capri, Yline, Lourenco, Charles Marques, Russell, Bianca E., Neustad, Ahna, Brunetti Pierri, Nicola, Keren, Boris, Reis, André, Cohen, Julie S., Heidlebaugh, Alexis, Smith, Clay, Thiel, Christian T., Salviati, Leonardo, Zampino, Giuseppe, Campeau, Philippe M., Stella, Lorenzo, Tartaglia, Marco, and Flex, Elisabetta

Published
2024
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4. Antibody Deficiency in Patients with Biallelic KARS1 Mutations

Author

Saettini, Francesco, Guerra, Fabiola, Fazio, Grazia, Bugarin, Cristina, McMillan, Hugh J, Ohtake, Akira, Ardissone, Anna, Itoh, Masayuki, Giglio, Sabrina, Cappuccio, Gerarda, Giardino, Giuliana, Romano, Roberta, Quadri, Manuel, Gasperini, Serena, Moratto, Daniele, Chiarini, Marco, Akira, Ishiguro, Fukuhara, Yasuyuki, Hayakawa, Itaru, Okazaki, Yasushi, Mauri, Mario, Piazza, Rocco, Cazzaniga, Gianni, and Biondi, Andrea

Published
2023
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5. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Author

Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, and Kleefstra, Tjitske

Published
2024
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6. Rigor and reproducibility in human brain organoid research: Where we are and where we need to go

Author

Anderson, Stewart, Anita, Bhattacharyya, Buttermore, Elizabeth, Chang, Qiang, French, Deborah, Hashimoto-Torii, Kazue, Kornblum, Harley, Kroll, Kristin, Lachman, Herbert M., Maletic-Savatic, Mirjana, Niciu, Mark, Novitch, Bennett, Padmanabhan, Krishnan, Proschel, Chris, Sahin, Mustafa, Sousa, Andre, Stein, Jason, Wang, Daifeng, Waxman, Elisa, Whye, Dosh, Williams, Aislinn, Zhao, Xinyu, Sandoval, Soraya O., Cappuccio, Gerarda, Kruth, Karina, Osenberg, Sivan, Khalil, Saleh M., Méndez-Albelo, Natasha M., Niciu, Mark J., Bhattacharyya, Anita, Stein, Jason L., Sousa, André M.M., Waxman, Elisa A., Buttermore, Elizabeth D., and Sirois, Carissa L.

Published
2024
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7. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Author

Van Haute, Lindsey, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H., Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J., Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A., Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S., Ziegler, Alban, Thorburn, David R., Stroud, David A., Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, and Horvath, Rita

Published
2023
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8. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Author

Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander JM, Goodman, Sarah J, Siu, Michelle T, Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert BA, Deden, A Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance TRM, Stevens, Servi JC, Vermeulen, Jeroen R, van Harssel, Jeske VT, Bosch, Danielle GM, van Gassen, Koen LI, van Binsbergen, Ellen, de Geus, Christa M, Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M, Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B, Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W, Berry, Ian R, Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M, Radley, Jessica A, Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata JM, Cohn, Ronald D, Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W, Brunner, Han G, Vissers, Lisenka ELM, Kleefstra, Tjitske, Koolen, David A, and Weksberg, Rosanna

Subjects
Genetics, Clinical Research, Brain Disorders, Mental Health, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Adenosine Triphosphatases, Case-Control Studies, Cohort Studies, Craniofacial Abnormalities, DNA Methylation, Epigenesis, Genetic, Female, Genetic Predisposition to Disease, Growth Disorders, Heart Septal Defects, Ventricular, Humans, Infant, Newborn, Male, Mutation, Neurodevelopmental Disorders, Phenotype, DNA methylation signature, Floating-Harbor syndrome, SRCAP, epigenomics, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorders, non-FLHS SRCAP-related NDD, nonsense-mediated decay, speech delay, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. Because FLHS is known to be associated with a unique set of DNA methylation (DNAm) changes in blood, a DNAm signature, we investigated whether there was a distinct signature associated with our affected individuals. A machine-learning model, based on the FLHS DNAm signature, negatively classified all our tested subjects. Comparing proximal variants with typically developing controls, we identified a DNAm signature distinct from the FLHS signature. Based on the DNAm and clinical data, we refer to the condition as "non-FLHS SRCAP-related NDD." All five distal variants classified negatively using the FLHS DNAm model while two classified positively using the proximal model. This suggests divergent pathogenicity of these variants, though clinically the distal group presented with NDD, similar to the proximal SRCAP group. In summary, for SRCAP, there is a clear relationship between variant location, DNAm profile, and clinical phenotype. These results highlight the power of combined epigenetic, molecular, and clinical studies to identify and characterize genotype-epigenotype-phenotype correlations.

Published
2021

9. Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

Author

Wang, Huilun H., Lin, Liangguang L., Li, Zexin J., Wei, Xiaoqiong, Askander, Omar, Cappuccio, Gerarda, Hashem, Mais O., Huber, Laurence, Munnich, Arnold, Alqahtani, Mashael, Pang, Qi, Burmeister, Margit, Lu, You, Poirier, Karine, Besmond, Claude, Sun, Shengyi, Brunetti-Pierri, Nicola, Alkuraya, Fowzan S., and Qi, Ling

Subjects
Child development deviations -- Development and progression -- Genetic aspects -- Causes of, Nervous system diseases -- Development and progression -- Genetic aspects -- Causes of, Endoplasmic reticulum -- Health aspects, Neurological research, Genetic variation -- Research, Developmental disabilities -- Development and progression -- Genetic aspects -- Causes of, Health care industry
Abstract

Recent studies using cell type-specific knockout mouse models have improved our understanding of the pathophysiological relevance of suppressor of lin-12-like-HMG-CoA reductase degradation 1 (SEL1L- HRD1) endoplasmic reticulum- associated (ER-associated) degradation (ERAD); however, its importance in humans remains unclear, as no disease variant has been identified. Here, we report the identification of 3 biallelic missense variants of SEL1L and HRD1 (or SYVN1) in 6 children from 3 independent families presenting with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, hypotonia, and/or ataxia. These SEL1L (p.Gly585Asp, p.Met528Arg) and HRD1 (p.Pro398Leu) variants were hypomorphic and impaired ERAD function at distinct steps of ERAD, including substrate recruitment (SEL1L p.Gly585Asp), SEL1L-HRD1 complex formation (SEL1L p.Met528Arg), and HRD1 activity (HRD1 p.Pro398Leu). Our study not only provides insights into the structure-function relationship of SEL1L-HRD1 ERAD, but also establishes the importance of SEL1L-HRD1 ERAD in humans., Introduction Nascent membrane or secretory proteins are synthesized and folded in the endoplasmic reticulum (ER), which is prone to misfolding. Such misfolding may have pathogenic consequences if not cleared effectively [...]

Published
2024
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10. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, and Eichler, Evan E

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Commerce, Management, Tourism and Services, SPARK Consortium
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

11. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, and Eichler, Evan E

Subjects
Genetics, Prevention, 2.1 Biological and endogenous factors, Aetiology, Basic Helix-Loop-Helix Transcription Factors, CCCTC-Binding Factor, Case-Control Studies, Cohort Studies, DNA Mutational Analysis, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterogeneous-Nuclear Ribonucleoprotein U, High-Throughput Nucleotide Sequencing, Humans, KCNQ3 Potassium Channel, Male, Mutation, Neurodevelopmental Disorders, RNA-Binding Proteins, Repressor Proteins, Transcription Factors, SPARK Consortium
Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF

Published
2020

12. Contributors

Author

Antony, Irene, primary, Buttermore, Elizabeth D., additional, Cappuccio, Gerarda, additional, Casabona, Juan Cruz, additional, Chapman, Gareth, additional, Chen, Ivy Pin-Fang, additional, Chou, Harue, additional, Daheron, Laurence, additional, Dei-Ampeh, Alfred K., additional, Durcan, Thomas M., additional, Engle, Sandra J., additional, Faloon, Patrick, additional, FitzGerald, Kevin T., additional, French, Deborah L., additional, Giordano, James, additional, Glass, Madison R., additional, Kaushik, Komal, additional, Kleiman, Robin J., additional, Klein Gunnewiek, Teun, additional, Kroll, Kristen L., additional, Kyere, Felix A., additional, Lachman, Herbert M., additional, Latour, Brooke, additional, Maletic-Savatic, Mirjana, additional, Mao, Xiaobo, additional, Mariga, Abigail, additional, Maussion, Gilles, additional, Meganathan, Kesavan, additional, Mishra, Swati, additional, Nadif Kasri, Nael, additional, Petersen, Andrew, additional, Pimentel, Luisa, additional, Prakasam, Ramachandran, additional, Robert, Aiko, additional, Rocha, Cecilia, additional, Shah, Manuj, additional, Stein, Jason L., additional, Sundberg, Maria, additional, Van Der Kant, Rik, additional, Van Deursen, Coen, additional, Waxman, Elisa A., additional, Wu, Samantha, additional, Ying, Mingyao, additional, Young, Damian W., additional, and Young, Jessica E., additional

Published
2023
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14. Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening

Author

Xie, Lingling, McDaniel, Miranda J., Perszyk, Riley E., Kim, Sukhan, Cappuccio, Gerarda, Shapiro, Kevin A., Muñoz-Cabello, Beatriz, Sanchez-Lara, Pedro A., Grand, Katheryn, Zhang, Jing, Nocilla, Kelsey A., Sheikh, Rehan, Armengol, Lluis, Romano, Roberta, Pierson, Tyler Mark, Yuan, Hongjie, Myers, Scott J., and Traynelis, Stephen F.

Published
2023
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15. Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations

Author

Saettini, Francesco, Guerra, Fabiola, Fazio, Grazia, Bugarin, Cristina, McMillan, Hugh J., Ohtake, Akira, Ardissone, Anna, Itoh, Masayuki, Giglio, Sabrina, Cappuccio, Gerarda, Giardino, Giuliana, Romano, Roberta, Quadri, Manuel, Gasperini, Serena, Moratto, Daniele, Chiarini, Marco, Ishiguro, Akira, Fukuhara, Yasuyuki, Hayakawa, Itaru, Okazaki, Yasushi, Mauri, Mario, Piazza, Rocco, Cazzaniga, Gianni, and Biondi, Andrea

Published
2023
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17. Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Author

Peduto, Cristina, Cappuccio, Gerarda, Zeuli, Roberta, Zanobio, Mariateresa, Torella, Annalaura, Alkuraya, Fowzan S., Joss, Shelagh, Daolio, Cecilia, Spinelli, Alessandro Mauro, Zampieri, Stefania, Nigro, Vincenzo, and Brunetti‐Pierri, Nicola

Abstract

Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are not listed as a major feature of FOXP1‐related disorder. We report five unrelated individuals, each harboring likely gene disruptive de novo FOXP1 variants or whole gene microdeletion, who showed multiple joint contractures affecting at least two proximal and/or distal joints. Consistent with the phenotype of FOXP1‐related disorder, all five patients showed developmental delay with moderate‐to‐severe speech delay, ID, ASD, and facial dysmorphic features. FOXP1 is implicated in neuronal differentiation and in organizing motor axon projections, thus providing a potential developmental basis for the joint contractures. The combination of joint contractures and neurodevelopmental disorders supports the clinical suspicion of FOXP1‐related phenotype. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Author

Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, and Melis, Daniela

Published
2022
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20. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

Author

Torella, Annalaura, Cappuccio, Gerarda, Musacchia, Francesco, Mutarelli, Margherita, Carrella, Diego, Vitiello, Giuseppina, Parenti, Giancarlo, Capra, Valeria, Leuzzi, Vincenzo, Selicorni, Angelo, Maitz, Silvia, Brunetti-Pierri, Nicola, Banfi, Sandro, Zollino, Marcella, Montomoli, Martino, Milani, Donatella, Romano, Corrado, Tummolo, Albina, De Brasi, Daniele, Coppola, Antonietta, Santoro, Claudia, Ciaccio, Claudia, Duga, Valentina, Pantaleoni, Chiara, Esposito, Silvia, Moroni, Isabella, Pinelli, Michele, Castello, Raffaele, Nigro, Vincenzo, Chiapparini, Luisa, and D'Arrigo, Stefano

Published
2021
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21. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Author

Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske, Genetica, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, and Kleefstra, Tjitske

Published
2024

22. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, and Visser, W Edward

Published
2020
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24. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

Author

Juliá-Palacios, Natalia, primary, Olivella, Mireia, additional, Sigatullina Bondarenko, Mariya, additional, Ibáñez-Micó, Salvador, additional, Muñoz-Cabello, Beatriz, additional, Alonso-Luengo, Olga, additional, Soto-Insuga, Víctor, additional, García-Navas, Deyanira, additional, Cuesta-Herraiz, Laura, additional, Andreo-Lillo, Patricia, additional, Aguilera-Albesa, Sergio, additional, Hedrera-Fernández, Antonio, additional, González Alguacil, Elena, additional, Sánchez-Carpintero, Rocío, additional, Martín del Valle, Fernando, additional, Jiménez González, Erika, additional, Cean Cabrera, Lourdes, additional, Medina-Rivera, Ines, additional, Perez-Ordoñez, Marta, additional, Colomé, Roser, additional, Lopez, Laura, additional, Engracia Cazorla, María, additional, Fornaguera, Montserrat, additional, Ormazabal, Aida, additional, Alonso-Colmenero, Itziar, additional, Illescas, Katia Sofía, additional, Balsells-Mejía, Sol, additional, Mari-Vico, Rosanna, additional, Duffo Viñas, Maria, additional, Cappuccio, Gerarda, additional, Terrone, Gaetano, additional, Romano, Roberta, additional, Manti, Filippo, additional, Mastrangelo, Mario, additional, Alfonsi, Chiara, additional, de Siqueira Barros, Bruna, additional, Nizon, Mathilde, additional, Gjerulfsen, Cathrine Elisabeth, additional, L Muro, Valeria, additional, Karall, Daniela, additional, Zeiner, Fiona, additional, Masnada, Silvia, additional, Peterlongo, Irene, additional, Oyarzábal, Alfonso, additional, Santos-Gómez, Ana, additional, Altafaj, Xavier, additional, and García-Cazorla, Ángeles, additional

Published
2024
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25. Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome

Author

Mendonca, Danielle, primary, Cappuccio, Gerarda, additional, Sheppard, Jennifer, additional, Delacruz, Magdalena, additional, Bengtsson, Jesse, additional, Carvalho, Claudia M.B., additional, Bajic, Aleksandar, additional, Park, Hyekyung, additional, Kim, Jean J., additional, Jafar-Nejad, Paymaan, additional, Coquery, Christine, additional, Pehlivan, Davut, additional, Suter, Bernhard, additional, and Maletic-Savatic, Mirjana, additional

Published
2023
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26. Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

Author

Wang, Huilun Helen, primary, Lin, Liangguang Leo, additional, Li, Zexin Jason, additional, Wei, Xiaoqiong, additional, Askander, Omar, additional, Cappuccio, Gerarda, additional, Hashem, Mais O., additional, Hubert, Laurence, additional, Munnich, Arnold, additional, Alqahtani, Mashael, additional, Pang, Qi, additional, Burmeister, Margit, additional, Lu, You, additional, Poirier, Karine, additional, Besmond, Claude, additional, Sun, Shengyi, additional, Brunetti-Pierri, Nicola, additional, Alkuraya, Fowzan S., additional, and Qi, Ling, additional

Published
2023
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27. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine

Author

Cappuccio, Gerarda, Atwal, Paldeep S., Donti, Taraka R., Ugarte, Kiki, Merchant, Nadia, Craigen, William J., Sutton, V. Reid, Elsea, Sarah H., Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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29. Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Author

Scala, Marcello, Torella, Annalaura, Severino, Mariasavina, Morana, Giovanni, Castello, Raffaele, Accogli, Andrea, Verrico, Antonio, Vari, Maria Stella, Cappuccio, Gerarda, Pinelli, Michele, Vitiello, Giuseppina, Terrone, Gaetano, D’Amico, Alessandra, TUDP consortium, Nigro, Vincenzo, and Capra, Valeria

Published
2019
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33. POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

Author

Rossi, Alessandra, primary, Blok, Lot Snijders, additional, Neuser, Sonja, additional, Klöckner, Chiara, additional, Platzer, Konrad, additional, Faivre, Laurence Olivier, additional, Weigand, Heike, additional, Dentici, Maria L., additional, Tartaglia, Marco, additional, Niceta, Marcello, additional, Alfieri, Paolo, additional, Srivastava, Siddharth, additional, Coulter, David, additional, Smith, Lacey, additional, Vinorum, Kristin, additional, Cappuccio, Gerarda, additional, Brunetti‐Pierri, Nicola, additional, Torun, Deniz, additional, Arslan, Mutluay, additional, Lauridsen, Mathilde F., additional, Murch, Oliver, additional, Irving, Rachel, additional, Lynch, Sally A., additional, Mehta, Sarju G., additional, Carmichael, Jenny, additional, Zonneveld‐Huijssoon, Evelien, additional, de Vries, Bert, additional, Kleefstra, Tjitske, additional, Johannesen, Katrine M., additional, Westphall, Ian T., additional, Hughes, Susan S., additional, Smithson, Sarah, additional, Evans, Julie, additional, Dudding‐Byth, Tracy, additional, Simon, Marleen, additional, van Binsbergen, Ellen, additional, Herkert, Johanna C., additional, Beunders, Gea, additional, Oppermann, Henry, additional, Bakal, Mert, additional, Møller, Rikke S., additional, Rubboli, Guido, additional, and Bayat, Allan, additional

Published
2023
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34. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

Author

Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L, Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F, Murch, Oliver, Irving, Rachel, Lynch, Sally A, Mehta, Sarju G, Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M, Westphall, Ian T, Hughes, Susan S, Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C, Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S, Rubboli, Guido, Bayat, Allan, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L, Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F, Murch, Oliver, Irving, Rachel, Lynch, Sally A, Mehta, Sarju G, Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M, Westphall, Ian T, Hughes, Susan S, Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C, Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S, Rubboli, Guido, and Bayat, Allan

Published
2023

35. POU3F3-related disorder:Defining the phenotype and expanding the molecular spectrum

Author

Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan, Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, and Bayat, Allan

Abstract

POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype–phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort. Functional effects of missense variants were investigated with 3D protein modeling. We included 28 individuals (5 previously published) from 26 families carrying POU3F3 variants; 23 de novo and one inherited from an affected parent. Median age at study inclusion was 7.4 years. All had developmental delay mainly affecting speech, behavioral difficulties, psychiatric comorbidities and dysmorphisms. Additional features included gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances and joint hypermobility. Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-binding region of POU3F3. Our study refined the phenotypic and genetic landscape of POU3F3-related disorders, it reports the functional properties of the identified pathogenic variants, and delineates some genotype–phenotype correlations., POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype–phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort. Functional effects of missense variants were investigated with 3D protein modeling. We included 28 individuals (5 previously published) from 26 families carrying POU3F3 variants; 23 de novo and one inherited from an affected parent. Median age at study inclusion was 7.4 years. All had developmental delay mainly affecting speech, behavioral difficulties, psychiatric comorbidities and dysmorphisms. Additional features included gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances and joint hypermobility. Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-binding region of POU3F3. Our study refined the phenotypic and genetic landscape of POU3F3-related disorders, it reports the functional properties of the identified pathogenic variants, and delineates some genotype–phenotype correlations.

Published
2023

38. Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review

Author

Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria, Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, and Capra, Valeria

Subjects
Embryology, AHDC1, loss-of-function variant, Genotype, Xia-Gibbs syndrome, Health, Toxicology and Mutagenesis, DNA-Binding Protein, DNA repair, DNA, genotype-phenotype correlation, Toxicology, neurodevelopmental syndrome, Epigenesis, Genetic, Musculoskeletal Abnormalities, Phenotype, Intellectual Disability, Pediatrics, Perinatology and Child Health, Abnormalities, Multiple, Developmental Biology, Human
Abstract

Background Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-binding motif-containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription and epigenetic regulation, axonogenesis, brain function, and neurodevelopment. AHDC1 variants possibly act through a dominant-negative mechanism and may interfere with DNA repair processes, leading to genome instability and impaired DNA translesion repair. Variants affecting residues closer to the N-terminal are thought to determine a milder phenotype with better cognitive performances. However, clean-cut genotype-phenotype correlations are still lacking. Cases In this study, we investigated five subjects with XGS in whom exome sequencing led to the identification of five novel de novo pathogenic variants in AHDC1. All variants were extremely rare and predicted to cause a loss of protein function. The phenotype of the reported patients included developmental delay, hypotonia, and distinctive facial dysmorphisms. Additionally, uncommon clinical features were observed, including congenital hypothyroidism and peculiar skeletal abnormalities. Conclusions In this study, we report uncommon XGS features associated with five novel truncating variants in AHDC, thus expanding the genotype and phenotypic spectrum of this complex condition. We also compared our cases to previously reported cases, discussing the current status of genotype-phenotype correlations in XGS.

Published
2022

40. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Levy, Michael A., primary, Relator, Raissa, additional, McConkey, Haley, additional, Pranckeviciene, Erinija, additional, Kerkhof, Jennifer, additional, Barat‐Houari, Mouna, additional, Bargiacchi, Sara, additional, Biamino, Elisa, additional, Palomares Bralo, María, additional, Cappuccio, Gerarda, additional, Ciolfi, Andrea, additional, Clarke, Angus, additional, DuPont, Barbara R., additional, Elting, Mariet W., additional, Faivre, Laurence, additional, Fee, Timothy, additional, Ferilli, Marco, additional, Fletcher, Robin S., additional, Cherick, Florian, additional, Foroutan, Aidin, additional, Friez, Michael J., additional, Gervasini, Cristina, additional, Haghshenas, Sadegheh, additional, Hilton, Benjamin A., additional, Jenkins, Zandra, additional, Kaur, Simranpreet, additional, Lewis, Suzanne, additional, Louie, Raymond J., additional, Maitz, Silvia, additional, Milani, Donatella, additional, Morgan, Angela T., additional, Oegema, Renske, additional, Østergaard, Elsebet, additional, Pallares, Nathalie R., additional, Piccione, Maria, additional, Plomp, Astrid S., additional, Poulton, Cathryn, additional, Reilly, Jack, additional, Rius, Rocio, additional, Robertson, Stephen, additional, Rooney, Kathleen, additional, Rousseau, Justine, additional, Santen, Gijs W. E., additional, Santos‐Simarro, Fernando, additional, Schijns, Josephine, additional, Squeo, Gabriella M., additional, John, Miya St, additional, Thauvin‐Robinet, Christel, additional, Traficante, Giovanna, additional, van der Sluijs, Pleuntje J., additional, Vergano, Samantha A., additional, Vos, Niels, additional, Walden, Kellie K., additional, Azmanov, Dimitar, additional, Balci, Tugce B., additional, Banka, Siddharth, additional, Gecz, Jozef, additional, Henneman, Peter, additional, Lee, Jennifer A., additional, Mannens, Marcel M. A. M., additional, Roscioli, Tony, additional, Siu, Victoria, additional, Amor, David J., additional, Baynam, Gareth, additional, Bend, Eric G., additional, Boycott, Kym, additional, Brunetti‐Pierri, Nicola, additional, Campeau, Philippe M., additional, Campion, Dominique, additional, Christodoulou, John, additional, Dyment, David, additional, Esber, Natacha, additional, Fahrner, Jill A., additional, Fleming, Mark D., additional, Genevieve, David, additional, Heron, Delphine, additional, Husson, Thomas, additional, Kernohan, Kristin D., additional, McNeill, Alisdair, additional, Menke, Leonie A., additional, Merla, Giuseppe, additional, Prontera, Paolo, additional, Rockman‐Greenberg, Cheryl, additional, Schwartz, Charles, additional, Skinner, Steven A., additional, Stevenson, Roger E., additional, Vincent, Marie, additional, Vitobello, Antonio, additional, Tartaglia, Marco, additional, Alders, Marielle, additional, Tedder, Matthew L., additional, and Sadikovic, Bekim, additional

Published
2022
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41. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

Author

Jia, Xiangbin, primary, Zhang, Shujie, additional, Tan, Senwei, additional, Du, Bing, additional, He, Mei, additional, Qin, Haisong, additional, Chen, Jia, additional, Duan, Xinyu, additional, Luo, Jingsi, additional, Chen, Fei, additional, Ouyang, Luping, additional, Wang, Jian, additional, Chen, Guodong, additional, Yu, Bin, additional, Zhang, Ge, additional, Zhang, Zimin, additional, Lyu, Yongqing, additional, Huang, Yi, additional, Jiao, Jian, additional, Chen, Jin Yun (Helen), additional, Swoboda, Kathryn J., additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Leoni, Chiara, additional, Zampino, Giuseppe, additional, Cappuccio, Gerarda, additional, Brunetti-Pierri, Nicola, additional, Gerard, Benedicte, additional, Ginglinger, Emmanuelle, additional, Richer, Julie, additional, McMillan, Hugh, additional, White-Brown, Alexandre, additional, Hoekzema, Kendra, additional, Bernier, Raphael A., additional, Kurtz-Nelson, Evangeline C., additional, Earl, Rachel K., additional, Meddens, Claartje, additional, Alders, Marielle, additional, Fuchs, Meredith, additional, Caumes, Roseline, additional, Brunelle, Perrine, additional, Smol, Thomas, additional, Kuehl, Ryan, additional, Day-Salvatore, Debra-Lynn, additional, Monaghan, Kristin G., additional, Morrow, Michelle M., additional, Eichler, Evan E., additional, Hu, Zhengmao, additional, Yuan, Ling, additional, Tan, Jieqiong, additional, Xia, Kun, additional, Shen, Yiping, additional, and Guo, Hui, additional

Published
2022
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42. Postnatal microcephaly and retinal involvement expand the phenotype ofRPL10‐related disorder

Author

Cappuccio, Gerarda, primary, De Bernardi, Margherita Lucia, additional, Morlando, Alessia, additional, Peduto, Cristina, additional, Scala, Iris, additional, Pinelli, Michele, additional, Bellacchio, Emanuele, additional, Gallo, Flavio Gioele, additional, Magli, Adriano, additional, Plaitano, Carmen, additional, Serrano, Mercedes, additional, Pías, Leticia, additional, Català, Jaume, additional, Bolasell, Mercè, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Zanni, Ginevra, additional, and Brunetti‐Pierri, Nicola, additional

Published
2022
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43. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Author

Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Ostergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim, Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Ostergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., and Sadikovic, Bekim

Abstract

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions.

Published
2022

44. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim, Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., and Sadikovic, Bekim

Abstract

An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of disorder-specific and recurring genome-wide differentially methylated probes (DMPs) and regions (DMRs). The overall distribution of DMPs and DMRs across the majority of the neurodevelopmental genetic syndromes analyzed showed substantial enrichment in gene promoters and CpG islands, and under-representation of the more variable intergenic regions. Analysis showed significant enrichment of the DMPs and DMRs in gene pathways and processes related to neurodevelopment, including neurogenesis, synaptic signaling and synaptic transmission. This study expands beyond the diagnostic utility of DNA methylation episignatures by demonstrating correlation between the function of the mutated genes and the consequent genomic DNA methylation profiles as a key functional element in the molecular etiology of genetic neurodevelopmental disorders.

Published
2022

45. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Genetica Klinische Genetica, Brain, Child Health, Levy, Michael A, Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Genetica Klinische Genetica, Brain, Child Health, Levy, Michael A, Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, and Sadikovic, Bekim

Published
2022

48. Bioassay-confirmed Pathogenic De Novo ATP1A1 Variants Cause a Complex Neurodevelopmental Syndrome (S29.009)

Author

Dohrn, Maike, primary, Rebelo, Adriana, additional, Srivastava, Siddharth, additional, Cappuccio, Gerarda, additional, Smigiel, Robert, additional, Malhotra, Alka, additional, Basel, Donald, additional, van de Laar, Ingrid M. B., additional, Neuteboom, Rinze F., additional, Brunetti-Pierri, Nicoletta, additional, and Zuchner, Stephan, additional

Published
2022
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49. Biallelic variants inCENPFcausing a phenotype distinct from Strømme syndrome

Author

Cappuccio, Gerarda, primary, Brillante, Simona, additional, Tammaro, Roberta, additional, Pinelli, Michele, additional, De Bernardi, Margherita Lucia, additional, Gensini, Maria Grazia, additional, Bijlsma, Emilia K., additional, Koopmann, Tamara T., additional, Hoffer, Mariette J. V., additional, McDonald, Kimberly, additional, Hendon, Laura G., additional, Douzgou, Sofia, additional, Deshpande, Charulata, additional, D'Arrigo, Stefano, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Franco, Brunella, additional, and Brunetti‐Pierri, Nicola, additional

Published
2022
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50. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Author

Mussa, Alessandro, primary, Leoni, Chiara, additional, Iacoviello, Matteo, additional, Carli, Diana, additional, Ranieri, Carlotta, additional, Pantaleo, Antonino, additional, Buonuomo, Paola Sabrina, additional, Bagnulo, Rosanna, additional, Ferrero, Giovanni Battista, additional, Bartuli, Andrea, additional, Melis, Daniela, additional, Maitz, Silvia, additional, Loconte, Daria Carmela, additional, Turchiano, Antonella, additional, Piglionica, Marilidia, additional, De Luisi, Annunziata, additional, Susca, Francesco Claudio, additional, Bukvic, Nenad, additional, Forleo, Cinzia, additional, Selicorni, Angelo, additional, Zampino, Giuseppe, additional, Onesimo, Roberta, additional, Cappuccio, Gerarda, additional, Garavelli, Livia, additional, Novelli, Chiara, additional, Memo, Luigi, additional, Morando, Carla, additional, Della Monica, Matteo, additional, Accadia, Maria, additional, Capurso, Martina, additional, Piscopo, Carmelo, additional, Cereda, Anna, additional, Di Giacomo, Marilena Carmela, additional, Saletti, Veronica, additional, Spinelli, Alessandro Mauro, additional, Lastella, Patrizia, additional, Tenconi, Romano, additional, Dvorakova, Veronika, additional, Irvine, Alan D, additional, and Resta, Nicoletta, additional

Published
2022
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