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1. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Author

Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, and Sadikovic, Bekim

Published
2024
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2. Autistic Disorder: A 20 Year Chronicle

Author

Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., and Stevenson, Roger E.

Abstract

The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort.

Published
2021
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3. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

Author

Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, and Stevenson, Roger E.

Published
2022
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5. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Author

Sajan, Samin A, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Glaze, Daniel G, Kaufmann, Walter E, Skinner, Steven A, Annese, Fran, Friez, Michael J, Lane, Jane, Percy, Alan K, and Neul, Jeffrey L

Subjects
Biological Sciences, Genetics, Mental Health, Pediatric, Rett Syndrome, Rare Diseases, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Congenital, Adolescent, Adult, Child, Child, Preschool, Chromatin, DNA Copy Number Variations, Female, Forkhead Transcription Factors, Humans, Infant, Male, Methyl-CpG-Binding Protein 2, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Exome Sequencing, chromatin regulation, CNV, exome sequencing, glutamate signaling, Rett syndrome, Clinical Sciences, Genetics & Heredity
Abstract

PurposeRett syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations in MECP2 and sometimes in CDKL5 and FOXG1. However, some RTT patients lack mutations in these genes.MethodsTwenty-two RTT patients without apparent MECP2, CDKL5, and FOXG1 mutations were subjected to both whole-exome sequencing and single-nucleotide polymorphism array-based copy-number variant (CNV) analyses.ResultsThree patients had MECP2 mutations initially missed by clinical testing. Of the remaining 19, 17 (89.5%) had 29 other likely pathogenic intragenic mutations and/or CNVs (10 patients had 2 or more). Interestingly, 13 patients had mutations in a gene/region previously reported in other neurodevelopmental disorders (NDDs), thereby providing a potential diagnostic yield of 68.4%. These mutations were significantly enriched in chromatin regulators (corrected P = 0.0068) and moderately enriched in postsynaptic cell membrane molecules (corrected P = 0.076), implicating glutamate receptor signaling.ConclusionThe genetic etiology of RTT without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT.Genet Med 19 1, 13-19.

Published
2017

6. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Author

Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., and Alders, Marielle

Published
2021
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7. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

Author

Genetica, Genetica Klinische Genetica, Circulatory Health, Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim, Genetica, Genetica Klinische Genetica, Circulatory Health, Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, and Sadikovic, Bekim

Published
2024

10. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Author

Gehin, Charlotte, primary, Lone, Museer A., additional, Lee, Winston, additional, Capolupo, Laura, additional, Ho, Sylvia, additional, Adeyemi, Adekemi M., additional, Gerkes, Erica H., additional, Stegmann, Alexander P.A., additional, López-Martín, Estrella, additional, Bermejo-Sánchez, Eva, additional, Martínez-Delgado, Beatriz, additional, Zweier, Christiane, additional, Kraus, Cornelia, additional, Popp, Bernt, additional, Strehlow, Vincent, additional, Gräfe, Daniel, additional, Knerr, Ina, additional, Jones, Eppie R., additional, Zamuner, Stefano, additional, Abriata, Luciano A., additional, Kunnathully, Vidya, additional, Moeller, Brandon E., additional, Vocat, Anthony, additional, Rommelaere, Samuel, additional, Bocquete, Jean-Philippe, additional, Ruchti, Evelyne, additional, Limoni, Greta, additional, Van Campenhoudt, Marine, additional, Bourgeat, Samuel, additional, Henklein, Petra, additional, Gilissen, Christian, additional, van Bon, Bregje W., additional, Pfundt, Rolph, additional, Willemsen, Marjolein H., additional, Schieving, Jolanda H., additional, Leonardi, Emanuela, additional, Soli, Fiorenza, additional, Murgia, Alessandra, additional, Guo, Hui, additional, Zhang, Qiumeng, additional, Xia, Kun, additional, Fagerberg, Christina R., additional, Beier, Christoph P., additional, Larsen, Martin J., additional, Valenzuela, Irene, additional, Fernández-Álvarez, Paula, additional, Xiong, Shiyi, additional, Śmigiel, Robert, additional, López-González, Vanesa, additional, Armengol, Lluís, additional, Morleo, Manuela, additional, Selicorni, Angelo, additional, Torella, Annalaura, additional, Blyth, Moira, additional, Cooper, Nicola S., additional, Wilson, Valerie, additional, Oegema, Renske, additional, Herenger, Yvan, additional, Garde, Aurore, additional, Bruel, Ange-Line, additional, Tran Mau-Them, Frederic, additional, Maddocks, Alexis B.R., additional, Bain, Jennifer M., additional, Bhat, Musadiq A., additional, Costain, Gregory, additional, Kannu, Peter, additional, Marwaha, Ashish, additional, Champaigne, Neena L., additional, Friez, Michael J., additional, Richardson, Ellen B., additional, Gowda, Vykuntaraju K., additional, Srinivasan, Varunvenkat M., additional, Gupta, Yask, additional, Lim, Tze Y., additional, Sanna-Cherchi, Simone, additional, Lemaitre, Bruno, additional, Yamaji, Toshiyuki, additional, Hanada, Kentaro, additional, Burke, John E., additional, Jakšić, Ana Marjia, additional, McCabe, Brian D., additional, De Los Rios, Paolo, additional, Hornemann, Thorsten, additional, D’Angelo, Giovanni, additional, and Gennarino, Vincenzo A., additional

Published
2023
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11. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Author

Genetica Klinische Genetica, Brain, Child Health, Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A, Genetica Klinische Genetica, Brain, Child Health, Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marija, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, and Gennarino, Vincenzo A

Published
2023

12. Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients

Author

Nampoothiri, Sheela, Elcioglu, Nursel H., Koca, Suleyman S., Yesodharan, Dhanya, KK, Chandrababu, Krishnan, Vinod, V, Bhat, Meenakshi, Mohandas Nair K, Radhakrishnan, Natasha, Kappanayil, Mahesh, Sheth, Jayesh J., Alves, Sandra, Coutinho, Francisca, Friez, Michael J., Pauli, Richard M., Unger, Sheila, Superti-Furga, Andrea, Leroy, Jules G., and Cathey, Sara S.

Published
2019
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14. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Author

Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., and Sadikovic, Bekim

Published
2019
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15. Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Author

Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., and Di Donato, Nataliya

Published
2018
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18. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Author

Küry, Sébastien, primary, Zhang, Jinwei, additional, Besnard, Thomas, additional, Caro-Llopis, Alfonso, additional, Zeng, Xue, additional, Robert, Stephanie M., additional, Josiah, Sunday S., additional, Kiziltug, Emre, additional, Denommé-Pichon, Anne-Sophie, additional, Cogné, Benjamin, additional, Kundishora, Adam J., additional, Hao, Le T., additional, Li, Hong, additional, Stevenson, Roger E., additional, Louie, Raymond J., additional, Deb, Wallid, additional, Torti, Erin, additional, Vignard, Virginie, additional, McWalter, Kirsty, additional, Raymond, F. Lucy, additional, Rajabi, Farrah, additional, Ranza, Emmanuelle, additional, Grozeva, Detelina, additional, Coury, Stephanie A., additional, Blanc, Xavier, additional, Brischoux-Boucher, Elise, additional, Keren, Boris, additional, Õunap, Katrin, additional, Reinson, Karit, additional, Ilves, Pilvi, additional, Wentzensen, Ingrid M., additional, Barr, Eileen E., additional, Guihard, Solveig Heide, additional, Charles, Perrine, additional, Seaby, Eleanor G., additional, Monaghan, Kristin G., additional, Rio, Marlène, additional, van Bever, Yolande, additional, van Slegtenhorst, Marjon, additional, Chung, Wendy K., additional, Wilson, Ashley, additional, Quinquis, Delphine, additional, Bréhéret, Flora, additional, Retterer, Kyle, additional, Lindenbaum, Pierre, additional, Scalais, Emmanuel, additional, Rhodes, Lindsay, additional, Stouffs, Katrien, additional, Pereira, Elaine M., additional, Berger, Sara M., additional, Milla, Sarah S., additional, Jaykumar, Ankita B., additional, Cobb, Melanie H., additional, Panchagnula, Shreyas, additional, Duy, Phan Q., additional, Vincent, Marie, additional, Mercier, Sandra, additional, Gilbert-Dussardier, Brigitte, additional, Le Guillou, Xavier, additional, Audebert-Bellanger, Séverine, additional, Odent, Sylvie, additional, Schmitt, Sébastien, additional, Boisseau, Pierre, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Colin, Estelle, additional, Pasquier, Laurent, additional, Redon, Richard, additional, Bouman, Arjan, additional, Rosenfeld, Jill. A., additional, Friez, Michael J., additional, Pérez-Peña, Helena, additional, Akhtar Rizvi, Syed Raza, additional, Haider, Shozeb, additional, Antonarakis, Stylianos E., additional, Schwartz, Charles E., additional, Martínez, Francisco, additional, Bézieau, Stéphane, additional, Kahle, Kristopher T., additional, and Isidor, Bertrand, additional

Published
2022
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19. Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Author

Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., and Di Donato, Nataliya

Published
2018
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20. 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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21. Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome

Author

Cooley Coleman, Jessica A., primary, Fee, Timothy, additional, Bend, Renee, additional, Louie, Raymond, additional, Annese, Fran, additional, Stallworth, Jennifer, additional, Worthington, Jessica, additional, Buchanan, Caroline Black, additional, Everman, David B., additional, Skinner, Steven, additional, Friez, Michael J., additional, Jones, Julie R., additional, and Spellicy, Catherine J., additional

Published
2022
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23. 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

24. 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

25. 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

27. Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Author

Fang, Xiaolan, primary, Butler, Kameryn M., additional, Abidi, Fatima, additional, Gass, Jennifer, additional, Beisang, Arthur, additional, Feyma, Timothy, additional, Ryther, Robin C., additional, Standridge, Shannon, additional, Heydemann, Peter, additional, Jones, Mary, additional, Haas, Richard, additional, Lieberman, David N, additional, Marsh, Eric D., additional, Benke, Tim A., additional, Skinner, Steve, additional, Neul, Jeffrey L., additional, Percy, Alan K., additional, Friez, Michael J., additional, and Caylor, Raymond C., additional

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

Author

Levy, Michael A., primary, McConkey, Haley, additional, Kerkhof, Jennifer, additional, Barat-Houari, Mouna, additional, Bargiacchi, Sara, additional, Biamino, Elisa, additional, Bralo, María Palomares, additional, Cappuccio, Gerarda, additional, Ciolfi, Andrea, additional, Clarke, Angus, additional, DuPont, Barbara R., additional, Elting, Mariet W., additional, Faivre, Laurence, additional, Fee, Timothy, additional, Fletcher, Robin S., additional, Cherik, 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 Ruiz, additional, Piccione, Maria, additional, Pizzi, Simone, additional, Plomp, Astrid S., additional, Poulton, Cathryn, additional, Reilly, Jack, additional, Relator, Raissa, 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 Maria, additional, St John, Miya, 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, 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, Christodoulou, John, additional, Dyment, David, additional, Esber, Natacha, additional, Fahrner, Jill A., additional, Fleming, Mark D., additional, Genevieve, David, additional, Kerrnohan, 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, Vitobello, Antonio, additional, Tartaglia, Marco, additional, Alders, Marielle, additional, Tedder, Matthew L., additional, and Sadikovic, Bekim, additional

Published
2022
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29. Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders (Genetics in Medicine, (2021), 23, 6, (1065-1074), 10.1038/s41436-020-01096-4)

Author

Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, and ACS - Pulmonary hypertension & thrombosis

Abstract

A Correction to this paper has been published: https://doi.org/10.1038/s41436-021-01130-z.

Published
2021

31. X‐Linked intellectual disability update 2022.

Author

Schwartz, Charles E., Louie, Raymond J., Toutain, Annick, Skinner, Cindy, Friez, Michael J., and Stevenson, Roger E.

Abstract

Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X‐linked intellectual disability since the last update in 2017. The new genes were identified by sequencing of candidate genes (2), the entire X‐chromosome (2), the whole exome (15), or the whole genome (2). With these additions, 42 (21%) of the 199 named XLID syndromes and 27 (25%) of the 108 numbered nonsyndromic XLID families remain to be resolved at the molecular level. Although the pace of discovery of new XLID genes has slowed during the past 5 years, the density of genes on the X chromosome that cause intellectual disability still appears to be twice the density of intellectual disability genes on the autosomes. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Clinical and genetic characterization of manifesting carriers of DMD mutations

Author

Soltanzadeh, Payam, Friez, Michael J., Dunn, Diane, von Niederhausern, Andrew, Gurvich, Olga L., Swoboda, Kathryn J., Sampson, Jacinda B., Pestronk, Alan, Connolly, Anne M., Florence, Julaine M., Finkel, Richard S., Bönnemann, Carsten G., Medne, Livija, Mendell, Jerry R., Mathews, Katherine D., Wong, Brenda L., Sussman, Michael D., Zonana, Jonathan, Kovak, Karen, Gospe, Sidney M., Jr., Gappmaier, Eduard, Taylor, Laura E., Howard, Michael T., Weiss, Robert B., and Flanigan, Kevin M.

Published
2010
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33. Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

Author

Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe D. I., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Amsterdam Gastroenterology Endocrinology Metabolism, General Paediatrics, and APH - Quality of Care

Abstract

(The American Journal of Human Genetics 106, 356–370; March 5, 2020) In the version of this paper originally published, the underlying cause for Hunter McAlpine syndrome was incorrectly described in Table 1. The relevant description has been changed to read “Chr5q35-qter duplication involving NSD1” in the updated Table 1 reflected here. The authors apologize for this error.

Published
2021

34. Scalp-Ear-Nipple syndrome

Author

Butler, Kameryn M., primary, Bahrambeigi, Vahid, additional, Merrihew, Allie, additional, Friez, Michael J., additional, and Cathey, Sara S., additional

Published
2021
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35. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Author

Aref-Eshghi, Erfan, primary, Kerkhof, Jennifer, additional, Pedro, Victor P., additional, France, Groupe DI, additional, Barat-Houari, Mouna, additional, Ruiz-Pallares, Nathalie, additional, Andrau, Jean-Christophe, additional, Lacombe, Didier, additional, Van-Gils, Julien, additional, Fergelot, Patricia, additional, Dubourg, Christéle, additional, Cormier-Daire, Valerie, additional, Rondeau, Sophie, additional, Lecoquierre, François, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, Lesca, Gaetan, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Vitobello, Antonio, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, Laumonnier, Frederic, additional, Raynaud, Martine, additional, Alders, Mariëlle, additional, Mannens, Marcel, additional, Henneman, Peter, additional, Hennekam, Raoul C., additional, Velasco, Guillaume, additional, Francastel, Claire, additional, Ulveling, Damien, additional, Ciolfi, Andrea, additional, Pizzi, Simone, additional, Tartaglia, Marco, additional, Heide, Solveig, additional, Héron, Delphine, additional, Mignot, Cyril, additional, Keren, Boris, additional, Whalen, Sandra, additional, Afenjar, Alexandra, additional, Bienvenu, Thierry, additional, Campeau, Philippe M., additional, Rousseau, Justine, additional, Levy, Michael A., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Balci, Tugce B., additional, Siu, Victoria Mok, additional, Stuart, Alan, additional, Kadour, Mike, additional, Masters, Jennifer, additional, Takano, Kyoko, additional, Kleefstra, Tjitske, additional, de Leeuw, Nicole, additional, Field, Michael, additional, Shaw, Marie, additional, Gecz, Jozef, additional, Ainsworth, Peter J., additional, Lin, Hanxin, additional, Rodenhiser, David I., additional, Friez, Michael J., additional, Tedder, Matt, additional, Lee, Jennifer A., additional, DuPont, Barbara R., additional, Stevenson, Roger E., additional, Skinner, Steven A., additional, Schwartz, Charles E., additional, Genevieve, David, additional, and Sadikovic, Bekim, additional

Published
2021
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39. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation

Author

Radenkovic, Silvia, primary, Fitzpatrick-Schmidt, Taylor, additional, Byeon, Seul Kee, additional, Madugundu, Anil K., additional, Saraswat, Mayank, additional, Lichty, Angie, additional, Wong, Sunnie Y.W., additional, McGee, Stephen, additional, Kubiak, Katharine, additional, Ligezka, Anna, additional, Ranatunga, Wasantha, additional, Zhang, Yuebo, additional, Wood, Tim, additional, Friez, Michael J., additional, Clarkson, Katie, additional, Pandey, Akhilesh, additional, Jones, Julie R., additional, and Morava, Eva, additional

Published
2021
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40. Ovarian transplantation between monozygotic twins discordant for premature ovarian failure

Author

Silber, Sherman J., Lenahan, Kathleen M., Levine, David J., Pineda, Jorge A., Gorman, Kim S., Gosden, Roger G., Crawford, Eric C., and Friez, Michael J.

Subjects
Twins -- Health aspects, Twins -- Case studies, Children -- Health aspects, Ovaries -- Transplantation, Ovaries -- Case studies
Abstract

A case of ovarian transplantation between healthy monozygotic twins by means of a simple cortical-graft technique is reported. One of them had premature ovarian failure at the age of 14 years, whereas her sister had normal ovaries and three naturally conceived children.

Published
2005

42. Recovery and phylogenetic analysis of nifH sequences from diazotrophic bacteria associated with dead aboveground biomass of Spartina alterniflora

Author

Lovell, Charles R., Friez, Michael J., Longshore, John W., and Bagwell, Christopher E.

Subjects
Spartina alterniflora -- Research, Nitrogen-fixing microorganisms -- Research, Biological sciences
Abstract

Bacteria isolated from dead Spartina alterniflora plants included alpha-Proteobacteria, gamma-Proteobacteria, and anaerobic diazotrophs. Four sequences from the alpha-Proteobacteria were over 99% homologous to Azospirillum brasilense.

Published
2001

45. Autistic Disorder: A 20 Year Chronicle

Author

Skinner, Cindy, primary, Pauly, Rini, additional, Skinner, Steven A., additional, Schroer, Richard J., additional, Simensen, Richard J., additional, Taylor, Harold A., additional, Friez, Michael J., additional, DuPont, Barbara R., additional, and Stevenson, Roger E., additional

Published
2020
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46. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Author

Aref-Eshghi, Erfan, primary, Kerkhof, Jennifer, additional, Pedro, Victor P., additional, Barat-Houari, Mouna, additional, Ruiz-Pallares, Nathalie, additional, Andrau, Jean-Christophe, additional, Lacombe, Didier, additional, Van-Gils, Julien, additional, Fergelot, Patricia, additional, Dubourg, Christèle, additional, Cormier-Daire, Valerie, additional, Rondeau, Sophie, additional, Lecoquierre, François, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, Lesca, Gaetan, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Vitobello, Antonio, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, Laumonnier, Frederic, additional, Raynaud, Martine, additional, Alders, Mariëlle, additional, Mannens, Marcel, additional, Henneman, Peter, additional, Hennekam, Raoul C., additional, Velasco, Guillaume, additional, Francastel, Claire, additional, Ulveling, Damien, additional, Ciolfi, Andrea, additional, Pizzi, Simone, additional, Tartaglia, Marco, additional, Heide, Solveig, additional, Héron, Delphine, additional, Mignot, Cyril, additional, Keren, Boris, additional, Whalen, Sandra, additional, Afenjar, Alexandra, additional, Bienvenu, Thierry, additional, Campeau, Philippe M., additional, Rousseau, Justine, additional, Levy, Michael A., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Balci, Tugce B., additional, Siu, Victoria Mok, additional, Stuart, Alan, additional, Kadour, Mike, additional, Masters, Jennifer, additional, Takano, Kyoko, additional, Kleefstra, Tjitske, additional, de Leeuw, Nicole, additional, Field, Michael, additional, Shaw, Marie, additional, Gecz, Jozef, additional, Ainsworth, Peter J., additional, Lin, Hanxin, additional, Rodenhiser, David I., additional, Friez, Michael J., additional, Tedder, Matt, additional, Lee, Jennifer A., additional, DuPont, Barbara R., additional, Stevenson, Roger E., additional, Skinner, Steven A., additional, Schwartz, Charles E., additional, Genevieve, David, additional, and Sadikovic, Bekim, additional

Published
2020
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47. Natural history of Christianson syndrome

Author

Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., and Schwartz, Charles E.

Published
2010
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48. Inside Back Cover, Volume 41, Issue 1

Author

Hijazi, Hadia, primary, Coelho, Fernanda S., additional, Gonzaga‐Jauregui, Claudia, additional, Bernardini, Laura, additional, Mar, Soe S., additional, Manning, Melanie A., additional, Hanson‐Kahn, Andrea, additional, Naidu, SakkuBai, additional, Srivastava, Siddharth, additional, Lee, Jennifer A., additional, Jones, Julie R., additional, Friez, Michael J., additional, Alberico, Thomas, additional, Torres, Barbara, additional, Fang, Ping, additional, Cheung, Sau Wai, additional, Song, Xiaofei, additional, Davis‐Williams, Angelique, additional, Jornlin, Carly, additional, Wight, Patricia A., additional, Patyal, Pankaj, additional, Taube, Jennifer, additional, Poretti, Andrea, additional, Inoue, Ken, additional, Zhang, Feng, additional, Pehlivan, Davut, additional, Carvalho, Claudia M. B., additional, Hobson, Grace M., additional, and Lupski, James R., additional

Published
2019
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49. Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii

Author

Henderson, Brittany B., primary, Chaubey, Alka, additional, Roth, Lawrence M., additional, Robboy, Stanley J., additional, Tarasidis, Gregory, additional, Jones, Julie R., additional, Sundermann, John M., additional, Chou, Jeff, additional, Craddock, Ann L., additional, Stevenson, Leslie, additional, Friez, Michael J., additional, Kincaid, Edward H., additional, and Stevenson, Roger E., additional

Published
2019
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