LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Authors: Chettle, James, Louie, Raymond J., Larner, Olivia, Best, Robert, Chen, Kevin, Morris, Josephine, Dedeic, Zinaida, Childers, Anna, Rogers, R. Curtis, DuPont, Barbara R., Skinner, Cindy, Küry, Sébastien, Uguen, Kevin, Planes, Marc, Monteil, Danielle, Li, Megan, Eliyahu, Aviva, Greenbaum, Lior, Mor, Nofar, Besnard, Thomas, Isidor, Bertrand, Cogné, Benjamin, Blesson, Alyssa, Comi, Anne, Wentzensen, Ingrid M., Vuocolo, Blake, Lalani, Seema R., Sierra, Roberta, Berry, Lori, Carter, Kent, Sanders, Stephan J., Blagden, Sarah P.

Source: In Human Genetics and Genomics Advances 10 October 2024 5(4)

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

Authors: 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

Source: In Genetics in Medicine May 2024 26(5)

Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

Authors: Moffitt, Bridgette A., Oberman, Lindsay M., Beamer, Laura, Srikanth, Sujata, Jain, Lavanya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, May, Melanie, Skinner, Cindy, Buchanan, Caroline, DuPont, Barbara R., Kaufmann, Walter E., Valentine, Kathleen, Ward, Linda D., Ivankovic, Diana, Rogers, R. Curtis, Phelan, Katy, Sarasua, Sara M., Boccuto, Luigi

Source: Clinical genetics. 104(2):198-209

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186836049.0x000001&indx=1&recIds=ETOCvdc_100186836049.0x000001

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

Authors: Sahajpal, Nikhil S., Mondal, Ashis K., Fee, Timothy, Hilton, Benjamin, Layman, Lawrence, Hastie, Alex R., Chaubey, Alka, DuPont, Barbara R., Kolhe, Ravindra

Source: Journal of molecular diagnostics. 25(4):234-246

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185621219.0x000001&indx=1&recIds=ETOCvdc_100185621219.0x000001

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

Authors: 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, 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

Source: Human mutation. 43(11):1609-1628

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165310052.0x000001&indx=1&recIds=ETOCvdc_100165310052.0x000001

A SOX3 duplication and lumbosacral spina bifida in three generations

Authors: Butler, Kameryn M., Fee, Timothy, DuPont, Barbara R., Dean, Jane H., Stevenson, Roger E., Lyons, Michael J.

Source: American journal of medical genetics.Part A. 188(5):1572-1577

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146658903.0x000001&indx=1&recIds=ETOCvdc_100146658903.0x000001

Autistic Disorder: A 20 Year Chronicle

Authors: Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., Stevenson, Roger E. (ORCID 0000-0002-1806-6345)

Source: Journal of Autism and Developmental Disorders. Feb 2021 51(2):677-684.

Peer Reviewed: Y

Page Count: 8

Descriptors: Autism, Pervasive Developmental Disorders, Longitudinal Studies, Etiology, Genetics, Environmental Influences, Intellectual Disability, Comorbidity, Independent Living, Group Homes, Educational Attainment

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Authors: Levy, Michael A., McConkey, Haley, 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, 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, Østergaard, 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

Source: In Human Genetics and Genomics Advances 13 January 2022 3(1)

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

Authors: 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

Source: In Genetics in Medicine June 2021 23(6):1065-1074

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature

Authors: Ziats, Catherine A., Jain, Lavanya, McLarney, Brittany, Vandenboom, Emily, DuPont, Barbara R., Rogers, Curtis, Sarasua, Sara, Nevado, Julian, Cordisco, Emanuela Lucci, Phelan, Katy, Boccuto, Luigi

Source: In European Journal of Medical Genetics November 2020 63(11)

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Authors: Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, 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

Source: In The American Journal of Human Genetics 5 March 2020 106(3):356-370

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Authors: Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, 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

Source: American journal of human genetics. 108(6):1161-1163

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136345514.0x000001&indx=1&recIds=ETOCvdc_100136345514.0x000001

Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report

Authors: Moncada Arita, Wilberg A., Perdomo Domínguez, Eduardo Smelin, Rivera Caballero, Astrid Yohaly, Espinoza‐Moreno, Nelson A., Zavala Galeano, Mauricio E., DuPont, Barbara R., Ramos‐Zaldívar, Héctor M.

Source: Clinical case reports. 10(4)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100151219213.0x000001&indx=1&recIds=ETOCvdc_100151219213.0x000001

Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.

Authors: Sahajpal, Nikhil, Ziats, Catherine, Chaubey, Alka, DuPont, Barbara R., Abidi, Fatima, Schwartz, Charles E., Stevenson, Roger E.

Source: Clinical Genetics; Feb2024, Vol. 105 Issue 2, p173-184, 12p

Subject Terms: CHROMOSOME duplication, INTELLECTUAL disabilities, DNA copy number variations

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

Authors: Sarasua, Sara M., Dwivedi, Alka, Boccuto, Luigi, Chen, Chin-Fu, Sharp, Julia L., Rollins, Jonathan D., Collins, Julianne S., Rogers, R. Curtis, Phelan, Katy, DuPont, Barbara R.

Source: In Genetics in Medicine April 2014 16(4):318-328

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.

Authors: Sajan, Samin A.¹, Brown, Carolyn M.¹, Davis‐Keppen, Laura², Burns, Kaitlyn², Royer, Erin², Coleman, Jessica A. Cooley³, Hilton, Benjamin A.³, DuPont, Barbara R.³, Perry, Denise L.¹, Taft, Ryan J.¹, Kesari, Akanchha¹, akesari@illumina.com

Source: American Journal of Medical Genetics. Part A; Dec2023, Vol. 191 Issue 12, p2831-2836, 6p

Deletion of 16q24.1 Supports a Role for the ATP2C2 Gene in Specific Language Impairment

Authors: Smith, Amena W., Holden, Kenton R., Dwivedi, Alka, Dupont, Barbara R., Lyons, Michael J.

Source: Journal of child neurology. 30(4):517-521

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN600486802&indx=1&recIds=ETOCRN600486802

Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation.

Authors: Sahajpal, Nikhil Shri, Mondal, Ashis K., Vashisht, Ashutosh, Singh, Harmanpreet, Pang, Andy Wing Chun, Saul, Daniel, Nivin, Omar, Hilton, Benjamin, DuPont, Barbara R., Kota, Vamsi, Savage, Natasha M., Hastie, Alex R., Chaubey, Alka, Kolhe, Ravindra

Source: Genes; Sep2023, Vol. 14 Issue 9, p1683, 14p

Subject Terms: GENE mapping, DNA mismatch repair, HEMATOLOGIC malignancies, ADENOSINE diphosphate, DNA repair, GLIOMAS

17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation.

Authors: Sahajpal, Nikhil Shri, Jeffrey, David H. F., DuPont, Barbara R., Hilton, Benjamin

Source: Molecular Cytogenetics (17558166); 7/10/2023, Vol. 16 Issue 1, p1-11, 11p

Subject Terms: DNA copy number variations, NEURAL development, AUTISM spectrum disorders, HUMAN abnormalities, LANGUAGE disorders, ARNOLD-Chiari deformity

Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.

Authors: Sahajpal, Nikhil Shri, Mondal, Ashis K., Singh, Harmanpreet, Vashisht, Ashutosh, Ananth, Sudha, Saul, Daniel, Hastie, Alex R., Hilton, Benjamin, DuPont, Barbara R., Savage, Natasha M., Kota, Vamsi, Chaubey, Alka, Cortes, Jorge E., Kolhe, Ravindra

Source: Cancers; Jun2023, Vol. 15 Issue 12, p3214, 17p

Subject Terms: RESEARCH, SEQUENCE analysis, GENETIC testing, MYELOPROLIFERATIVE neoplasms, KARYOTYPES, COMPARATIVE studies, FLUORESCENCE in situ hybridization, GENOMICS, DESCRIPTIVE statistics, GENE mapping, CYTOGENETICS