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1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Author

Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Goriely, Anne, Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lachlan, Katherine L., Lalani, Seema R., Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mansour, Sahar, Maurer, Taylor M., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen S., Tan, Tiong Yang, Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., Uebergang, Eloise, VanNoy, Grace E., Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Howson, Joanna M. M., Sanders, Stephan J., O’Donnell-Luria, Anne, and Whiffin, Nicola

Published
2024
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2. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Author

Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia MB, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, and Nagata, Koh Ichi

Subjects
Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Neurons, Animals, Humans, Mice, rac GTP-Binding Proteins, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, RAC3, axon guidance, brain development, neuronal migration, small GTPase, Neurosciences, Pediatric, Congenital Structural Anomalies, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, RAC3, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34G > C p.G12R, c.179G > A p.G60D, c.186_188delGGA p.E62del, c.187G > A p.D63N, c.191A > G p.Y64C and c.348G > C p.K116N. We then examined the pathophysiological significance of these novel and previously reported pathogenic variants p.P29L, p.P34R, p.A59G, p.Q61L and p.E62K. In vitro analyses revealed that all tested RAC3 variants were biochemically and biologically active to variable extent, and exhibited a spectrum of different affinities to downstream effectors including p21-activated kinase 1. We then focused on the four variants p.Q61L, p.E62del, p.D63N and p.Y64C in the Switch II region, which is essential for the biochemical activity of small GTPases and also a variation hot spot common to other Rho family genes, RAC1 and CDC42. Acute expression of the four variants in embryonic mouse brain using in utero electroporation caused defects in cortical neuron morphology and migration ending up with cluster formation during corticogenesis. Notably, defective migration by p.E62del, p.D63N and p.Y64C were rescued by a dominant negative version of p21-activated kinase 1. Our results indicate that RAC3 variants result in morphological and functional defects in cortical neurons during brain development through variant-specific mechanisms, eventually leading to heterogeneous neurodevelopmental phenotypes.

Published
2022

3. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

Author

Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, and O’Donnell-Luria, Anne

Published
2024
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4. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Author

Dias, Kerith-Rae, Shrestha, Rupendra, Schofield, Deborah, Evans, Carey-Anne, O’Heir, Emily, Zhu, Ying, Zhang, Futao, Standen, Krystle, Weisburd, Ben, Stenton, Sarah L., Sanchis-Juan, Alba, Brand, Harrison, Talkowski, Michael E., Ma, Alan, Ghedia, Sondy, Wilson, Meredith, Sandaradura, Sarah A., Smith, Janine, Kamien, Benjamin, Turner, Anne, Bakshi, Madhura, Adès, Lesley C., Mowat, David, Regan, Matthew, McGillivray, George, Savarirayan, Ravi, White, Susan M., Tan, Tiong Yang, Stark, Zornitza, Brown, Natasha J., Pérez-Jurado, Luis A., Krzesinski, Emma, Hunter, Matthew F., Akesson, Lauren, Fennell, Andrew Paul, Yeung, Alison, Boughtwood, Tiffany, Ewans, Lisa J., Kerkhof, Jennifer, Lucas, Christopher, Carey, Louise, French, Hugh, Rapadas, Melissa, Stevanovski, Igor, Deveson, Ira W., Cliffe, Corrina, Elakis, George, Kirk, Edwin P., Dudding-Byth, Tracy, Fletcher, Janice, Walsh, Rebecca, Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Meldrum, Cliff, Cliffe, Simon, Wall, Meg, Lunke, Sebastian, North, Kathryn, Amor, David J., Field, Michael, Sadikovic, Bekim, Buckley, Michael F., O’Donnell-Luria, Anne, and Roscioli, Tony

Published
2024
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5. Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Author

Francis, David I., Stark, Zornitza, Scheffer, Ingrid E., Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J., Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A., Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne, Hackett, Anna, Ayres, Samantha, Lunke, Sebastian, Kalitsis, Paul, and Wall, Meaghan

Published
2023
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6. A dyadic approach to the delineation of diagnostic entities in clinical genomics

Author

Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata JM, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, and Zarate, Yuri A

Subjects
Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a recognizably distinct phenotype. We assert that only by a combinatorial or dyadic approach taking both of these attributes into account can a unitary, distinct genetic disorder be designated. We propose that all Mendelian disorders should be designated as "GENE-related phenotype descriptor" (e.g., "CFTR-related cystic fibrosis"). This approach to delineating and naming disorders reconciles the complexity of gene-to-phenotype relationships in a simple and clear manner yet communicates the complexity and nuance of these relationships.

Published
2021

7. Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

Author

Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., and Wilkie, Andrew O.M.

Published
2023
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8. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Author

Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, and Newbury-Ecob, Ruth

Subjects
Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity
Abstract

PurposePathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported.MethodsWe obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review.ResultsWe identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a likely hotspot location for de novo missense variants. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications, genotype- phenotype correlations show that late-truncating pathogenic variants (exons 16-17) are significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction.ConclusionOur data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.

Published
2019

9. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author

van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., and Kleefstra, Tjitske

Published
2022
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10. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Author

Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Rhodes, Lindsay, Richards, Sarah, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Goh, Elaine Suk-Ying, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, Waisfisz, Quinten, de Haan, Hugoline, Sadedin, Simon, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, and Tan, Tiong Yang

Published
2022
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11. Genomic testing for differences of sex development: Practices and perceptions of clinicians.

Author

Atlas, Gabby, Hanna, Chloe, Tan, Tiong Yang, Nisselle, Amy, Tucker, Elena, Ayers, Katie, Sinclair, Andrew, and O'Connell, Michele A.

Subjects
PERCEPTION testing, PERCEIVED benefit, GENETIC disorder diagnosis, INDIVIDUAL differences, CLINICAL medicine
Abstract

Objectives: To investigate the approach taken by clinicians involved in the diagnosis and management of individuals with Differences of Sex Development (DSD), particularly with regard to genomic testing, and identify perceived gaps/strengths/barriers in current practice. Design and Methods: An anonymous online survey was developed, with questions exploring demographics, perceptions of genomic testing, availability of genetics services and opinions on the role and utility of genomic testing in DSD. All responses were anonymous. Clinicians involved in the diagnosis and management of individuals with DSD were recruited from relevant societies and departments across Australia and New Zealand. Results: 79 eligible clinicians commenced the survey, with 63 completing it and 16 providing a partial response. The perceived benefit of having a genetic diagnosis for DSD was almost unanimous (97%). Almost half (48%) of respondents reported barriers in genomic testing. 81% of respondents reported they order genomic tests currently. Approaches to genomic testing when faced with four different clinical scenarios varied across respondents. Clinicians perceived genomic testing to be underutilised (median 36 on sliding scale from 0 to 100). Conclusions: Despite 97% of respondents reporting benefit of a genetic diagnosis for individuals with DSD, this was not reflected throughout the survey with regard to clinical implementation. When faced with clinical scenarios, the recommendations for genomic testing from respondents was much lower, indicating the discrepancy between perception and clinical practice. Genomic testing in the context of DSD is seen as both beneficial and desired, yet there are multiple barriers impacting its integration into standard clinical care. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Genome Sequencing for Diagnosing Rare Diseases

Author

Wojcik, Monica H., primary, Lemire, Gabrielle, additional, Berger, Eva, additional, Zaki, Maha S., additional, Wissmann, Mariel, additional, Win, Wathone, additional, White, Susan M., additional, Weisburd, Ben, additional, Wieczorek, Dagmar, additional, Waddell, Leigh B., additional, Verboon, Jeffrey M., additional, VanNoy, Grace E., additional, Töpf, Ana, additional, Tan, Tiong Yang, additional, Syrbe, Steffen, additional, Strehlow, Vincent, additional, Straub, Volker, additional, Stenton, Sarah L., additional, Snow, Hana, additional, Singer-Berk, Moriel, additional, Silver, Josh, additional, Shril, Shirlee, additional, Seaby, Eleanor G., additional, Schneider, Ronen, additional, Sankaran, Vijay G., additional, Sanchis-Juan, Alba, additional, Russell, Kathryn A., additional, Reinson, Karit, additional, Ravenscroft, Gianina, additional, Radtke, Maximilian, additional, Popp, Denny, additional, Polster, Tilman, additional, Platzer, Konrad, additional, Pierce, Eric A., additional, Place, Emily M., additional, Pajusalu, Sander, additional, Pais, Lynn, additional, Õunap, Katrin, additional, Osei-Owusu, Ikeoluwa, additional, Opperman, Henry, additional, Okur, Volkan, additional, Oja, Kaisa Teele, additional, O’Leary, Melanie, additional, O’Heir, Emily, additional, Morel, Chantal F., additional, Merkenschlager, Andreas, additional, Marchant, Rhett G., additional, Mangilog, Brian E., additional, Madden, Jill A., additional, MacArthur, Daniel, additional, Lovgren, Alysia, additional, Lerner-Ellis, Jordan P., additional, Lin, Jasmine, additional, Laing, Nigel, additional, Hildebrandt, Friedhelm, additional, Hentschel, Julia, additional, Groopman, Emily, additional, Goodrich, Julia, additional, Gleeson, Joseph G., additional, Ghaoui, Roula, additional, Genetti, Casie A., additional, Gburek-Augustat, Janina, additional, Gazda, Hanna T., additional, Ganesh, Vijay S., additional, Ganapathi, Mythily, additional, Gallacher, Lyndon, additional, Fu, Jack M., additional, Evangelista, Emily, additional, England, Eleina, additional, Donkervoort, Sandra, additional, DiTroia, Stephanie, additional, Cooper, Sandra T., additional, Chung, Wendy K., additional, Christodoulou, John, additional, Chao, Katherine R., additional, Cato, Liam D., additional, Bujakowska, Kinga M., additional, Bryen, Samantha J., additional, Brand, Harrison, additional, Bönnemann, Carsten G., additional, Beggs, Alan H., additional, Baxter, Samantha M., additional, Bartolomaeus, Tobias, additional, Agrawal, Pankaj B., additional, Talkowski, Michael, additional, Austin-Tse, Christina, additional, Abou Jamra, Rami, additional, Rehm, Heidi L., additional, and O’Donnell-Luria, Anne, additional

Published
2024
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14. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

Author

Le, Thuy-Linh, Sribudiani, Yunia, Dong, Xiaomin, Huber, Céline, Kois, Chelsea, Baujat, Geneviève, Gordon, Christopher T., Mayne, Valerie, Galmiche, Louise, Serre, Valérie, Goudin, Nicolas, Zarhrate, Mohammed, Bole-Feysot, Christine, Masson, Cécile, Nitschké, Patrick, Verheijen, Frans W., Pais, Lynn, Pelet, Anna, Sadedin, Simon, Pugh, John A., Shur, Natasha, White, Susan M., El Chehadeh, Salima, Christodoulou, John, Cormier-Daire, Valérie, Hofstra, R.M.W., Lyonnet, Stanislas, Tan, Tiong Yang, Attié-Bitach, Tania, Kerstjens-Frederikse, Wilhelmina S., Amiel, Jeanne, and Thomas, Sophie

Published
2020
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15. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Author

Tan, Tiong Yang, Sedmík, Jiří, Fitzgerald, Mark P., Halevy, Rivka Sukenik, Keegan, Liam P., Helbig, Ingo, Basel-Salmon, Lina, Cohen, Lior, Straussberg, Rachel, Chung, Wendy K., Helal, Mayada, Maroofian, Reza, Houlden, Henry, Juusola, Jane, Sadedin, Simon, Pais, Lynn, Howell, Katherine B., White, Susan M., Christodoulou, John, and O’Connell, Mary A.

Published
2020
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17. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Author

Lee, Eric, Le, Trang, Zhu, Ying, Elakis, George, Turner, Anne, Lo, William, Venselaar, Hanka, Verrenkamp, Carol-Ann, Snow, Nicole, Mowat, David, Kirk, Edwin Philip, Sachdev, Rani, Smith, Janine, Brown, Natasha Jane, Wallis, Mathew, Barnett, Chris, McKenzie, Fiona, Freckmann, Mary-Louise, Collins, Felicity, Chopra, Maya, Gregersen, Nerine, Hayes, Ian, Rajagopalan, Sulekha, Tan, Tiong Yang, Stark, Zornitza, Savarirayan, Ravi, Yeung, Alison, Adès, Lesley, Gattas, Michael, Gibson, Kate, Gabbett, Michael, Amor, David John, Lattanzi, Wanda, Boyd, Simeon, Haan, Eric, Gianoutsos, Mark, Cox, Timothy Chilton, Buckley, Michael Francis, and Roscioli, Tony

Published
2018
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19. Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Author

Sekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M., Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A., Sachdev, Rani, McGillivray, George, Leventer, Richard J., Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito, Sato, Takashi, Chinen, Yasutsugu, Awaya, Tomonari, Kato, Takeo, Iwanaga, Kougoro, Kawai, Masahiko, Matsuoka, Takashi, Shimoji, Yoshikazu, Tan, Tiong Yang, Kapoor, Seema, Gregersen, Nerine, Rossi, Massimiliano, Marie-Laure, Mathieu, McGregor, Lesley, Oishi, Kimihiko, Mehta, Lakshmi, Gillies, Greta, Lockhart, Paul J., Pope, Kate, Shukla, Anju, Girisha, Katta Mohan, Abdel-Salam, Ghada M. H., Mowat, David, Coman, David, Kim, Ok Hwa, Cordier, Marie-Pierre, Gibson, Kate, Milunsky, Jeff, Liebelt, Jan, Cox, Helen, El Chehadeh, Salima, Toutain, Annick, Saida, Ken, Aoi, Hiromi, Minase, Gaku, Tsuchida, Naomi, Iwama, Kazuhiro, Uchiyama, Yuri, Suzuki, Toshifumi, Hamanaka, Kohei, Azuma, Yoshiteru, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Takata, Atsushi, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Miyake, Noriko, and Matsumoto, Naomichi

Published
2019
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20. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Author

Wojcik, Monica H, primary, Lemire, Gabrielle, additional, Zaki, Maha S, additional, Wissmann, Mariel, additional, Win, Wathone, additional, White, Sue, additional, Weisburd, Ben, additional, Waddell, Leigh B, additional, Verboon, Jeffrey M, additional, VanNoy, Grace E, additional, Topf, Ana, additional, Tan, Tiong Yang, additional, Straub, Volker, additional, Stenton, Sarah L, additional, Snow, Hana, additional, Singer-Berk, Moriel, additional, Silver, Josh, additional, Shril, Shirlee, additional, Seaby, Eleanor G, additional, Schneider, Ronen, additional, Sankaran, Vijay G, additional, Sanchis-Juan, Alba, additional, Russell, Kathryn A, additional, Reinson, Karit, additional, Ravenscroft, Gina, additional, Pierce, Eric A, additional, Place, Emily M, additional, Pajusalu, Sander, additional, Pais, Lynn, additional, Ounap, Katrin, additional, Osei-Owusu, Ikeoluwa, additional, Okur, Volkan, additional, Oja, Kaisa Teele, additional, OLeary, Melanie, additional, OHeir, Emily, additional, Morel, Chantal, additional, Marchant, Rhett G, additional, Mangilog, Brian E, additional, Madden, Jill A, additional, MacArthur, Daniel, additional, Lovgren, Alysia, additional, Lerner-Ellis, Jordan P, additional, Lin, Jasmine, additional, Laing, Nigel, additional, Hildebrandt, Friedhelm, additional, Groopman, Emily, additional, Goodrich, Julia, additional, Gleeson, Joseph G, additional, Ghaoui, Roula, additional, Genetti, Casie A, additional, Gazda, Hanna, additional, Ganesh, Vijay S, additional, Ganapathi, Mythily, additional, Gallacher, Lyndon, additional, Fu, Jack, additional, Evangelista, Emily, additional, England, Eleina, additional, Donkervoort, Sandra, additional, DiTroia, Stephanie, additional, Cooper, Sandra T, additional, Chung, Wendy K, additional, Christodoulou, John, additional, Chao, Katherine R, additional, Cato, Liam D, additional, Bujakowska, Kinga M, additional, Bryen, Samantha J, additional, Brand, Harrison, additional, Bonnemann, Carsten, additional, Beggs, Alan H, additional, Baxter, Samantha M, additional, Agrawal, Pankaj B, additional, Talkowski, Michael, additional, Austin-Tse, Christina, additional, Rehm, Heidi L, additional, and ODonnell-Luria, Anne, additional

Published
2023
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21. Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS.

Author

Malarbi, Stephanie, Chisholm, Anita K., Gunn-Charlton, Julia K., Burnett, Alice C., Tan, Tiong Yang, Cheng, Shirley S. W., Pellicano, Anastasia, Shand, Jocelyn, Heggie, Andrew, and Hunt, Rod W.

Subjects
GENETIC testing, ACQUISITION of data, FISHER exact test, COMPARATIVE studies, NEURAL development, PIERRE Robin Syndrome, INTELLECT, MEDICAL records, DESCRIPTIVE statistics, LONGITUDINAL method, INTELLIGENCE tests, CHILDREN
Abstract

Objective: Describe the intelligence quotient (IQ) of children with Pierre Robin sequence (PRS). Design: Prospective cohort study. Setting: Neurodevelopmental follow-up clinic within a hospital. Patients: Children with PRS (n = 45) who had been in the Neonatal Intensive Care Unit (NICU) were classified by a geneticist into 3 subgroups of isolated PRS (n = 20), PRS-plus additional medical features (n = 8), and syndromic PRS (n = 17) based on medical record review and genetic testing. Main Outcome Measure: Children with PRS completed IQ testing at 5 or 8 years of age with the Wechsler Preschool and Primary Scale of Intelligence, Third Edition (WPPSI-III) or Fourth Edition (WPPSI-IV) or the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) or Fifth Edition (WISC-V). Results: IQ scores were more than 1 to 2 standard deviations below the mean for 36% of the overall sample, which was significantly greater compared to test norms (binomial test P =.001). There was a significant association between PRS subtype and IQ (Fisher's exact P =.026). While only 20% of children with isolated PRS were within 1 standard deviation below average and 35% of children with syndromic PRS were below 1 to 2 standard deviations, 75% of PRS-plus children scored lower than 1 to 2 standard deviations below the mean. Conclusion: PRS subgroups can help identify children at risk for cognitive delay. The majority of children with PRS-plus had low intellectual functioning, in contrast to the third of children with syndromic PRS who had low IQ and the majority of children with isolated PRS who had average or higher IQ. [ABSTRACT FROM AUTHOR]

Published
2024
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22. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Author

Basilicata, M. Felicia, Bruel, Ange-Line, Semplicio, Giuseppe, Valsecchi, Claudia Isabelle Keller, Aktaş, Tuğçe, Duffourd, Yannis, Rumpf, Tobias, Morton, Jenny, Bache, Iben, Szymanski, Witold G., Gilissen, Christian, Vanakker, Olivier, Õunap, Katrin, Mittler, Gerhard, van der Burgt, Ineke, El Chehadeh, Salima, Cho, Megan T., Pfundt, Rolph, Tan, Tiong Yang, Kirchhoff, Maria, Menten, Björn, Vergult, Sarah, Lindstrom, Kristin, Reis, André, Johnson, Diana S., Fryer, Alan, McKay, Victoria, DDD Study, Fisher, Richard B., Thauvin-Robinet, Christel, Francis, David, Roscioli, Tony, Pajusalu, Sander, Radtke, Kelly, Ganesh, Jaya, Brunner, Han G., Wilson, Meredith, Faivre, Laurence, Kalscheuer, Vera M., Thevenon, Julien, and Akhtar, Asifa

Published
2018
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25. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Author

Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F., Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., and Stessman, Holly A.F.

Abstract

Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5Brelated neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.

Published
2023

26. De novo variants in the RNU4-2snRNA cause a frequent neurodevelopmental syndrome

Author

Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Goriely, Anne, Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lachlan, Katherine L., Lalani, Seema R., Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mansour, Sahar, Maurer, Taylor M., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen S., Tan, Tiong Yang, Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., Uebergang, Eloise, VanNoy, Grace E., Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Howson, Joanna M. M., Sanders, Stephan J., O’Donnell-Luria, Anne, and Whiffin, Nicola

Abstract

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2as a syndromic NDD gene. RNU4-2encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 base pair region of RNU4-2mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals in whom it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2is highly expressed in the developing human brain, in contrast to RNU4-1and other U4 homologues. Using RNA sequencing, we show how 5′ splice-site use is systematically disrupted in individuals with RNU4-2variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 base pair region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide.

Published
2024
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27. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Author

Sheppard, Sarah E., primary, Bryant, Laura, additional, Wickramasekara, Rochelle N., additional, Vaccaro, Courtney, additional, Robertson, Brynn, additional, Hallgren, Jodi, additional, Hulen, Jason, additional, Watson, Cynthia J., additional, Faundes, Victor, additional, Duffourd, Yannis, additional, Lee, Pearl, additional, Simon, M. Celeste, additional, de la Cruz, Xavier, additional, Padilla, Natália, additional, Flores-Mendez, Marco, additional, Akizu, Naiara, additional, Smiler, Jacqueline, additional, Pellegrino Da Silva, Renata, additional, Li, Dong, additional, March, Michael, additional, Diaz-Rosado, Abdias, additional, Peixoto de Barcelos, Isabella, additional, Choa, Zhao Xiang, additional, Lim, Chin Yan, additional, Dubourg, Christèle, additional, Journel, Hubert, additional, Demurger, Florence, additional, Mulhern, Maureen, additional, Akman, Cigdem, additional, Lippa, Natalie, additional, Andrews, Marisa, additional, Baldridge, Dustin, additional, Constantino, John, additional, van Haeringen, Arie, additional, Snoeck-Streef, Irina, additional, Chow, Penny, additional, Hing, Anne, additional, Graham, John M., additional, Au, Margaret, additional, Faivre, Laurence, additional, Shen, Wei, additional, Mao, Rong, additional, Palumbos, Janice, additional, Viskochil, David, additional, Gahl, William, additional, Tifft, Cynthia, additional, Macnamara, Ellen, additional, Hauser, Natalie, additional, Miller, Rebecca, additional, Maffeo, Jessica, additional, Afenjar, Alexandra, additional, Doummar, Diane, additional, Keren, Boris, additional, Arn, Pamela, additional, Macklin-Mantia, Sarah, additional, Meerschaut, Ilse, additional, Callewaert, Bert, additional, Reis, André, additional, Zweier, Christiane, additional, Brewer, Carole, additional, Saggar, Anand, additional, Smeland, Marie F., additional, Kumar, Ajith, additional, Elmslie, Frances, additional, Deshpande, Charu, additional, Nizon, Mathilde, additional, Cogne, Benjamin, additional, van Ierland, Yvette, additional, Wilke, Martina, additional, van Slegtenhorst, Marjon, additional, Koudijs, Suzanne, additional, Chen, Jin Yun, additional, Dredge, David, additional, Pier, Danielle, additional, Wortmann, Saskia, additional, Kamsteeg, Erik-Jan, additional, Koch, Johannes, additional, Haynes, Devon, additional, Pollack, Lynda, additional, Titheradge, Hannah, additional, Ranguin, Kara, additional, Denommé-Pichon, Anne-Sophie, additional, Weber, Sacha, additional, Pérez de la Fuente, Rubén, additional, Sánchez del Pozo, Jaime, additional, Lezana Rosales, Jose Miguel, additional, Joset, Pascal, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Mei, Davide, additional, Mari, Francesco, additional, Guerrini, Renzo, additional, Lespinasse, James, additional, Tran Mau-Them, Frédéric, additional, Philippe, Christophe, additional, Dauriat, Benjamin, additional, Raymond, Laure, additional, Moutton, Sébastien, additional, Cueto-González, Anna M., additional, Tan, Tiong Yang, additional, Mignot, Cyril, additional, Grotto, Sarah, additional, Renaldo, Florence, additional, Drivas, Theodore G., additional, Hennessy, Laura, additional, Raper, Anna, additional, Parenti, Ilaria, additional, Kaiser, Frank J., additional, Kuechler, Alma, additional, Busk, Øyvind L., additional, Islam, Lily, additional, Siedlik, Jacob A., additional, Henderson, Lindsay B., additional, Juusola, Jane, additional, Person, Richard, additional, Schnur, Rhonda E., additional, Vitobello, Antonio, additional, Banka, Siddharth, additional, Bhoj, Elizabeth J., additional, and Stessman, Holly A. F., additional

Published
2023
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28. MOGS‐ CDG: Quantitative analysis of the diagnosticGlc 3 Mantetrasaccharide and clinical spectrum of six new cases

Author

Post, Merel A., primary, de Wit, Isis, additional, Zijlstra, Fokje S. M., additional, Engelke, Udo F. H., additional, van Rooij, Arno, additional, Christodoulou, John, additional, Tan, Tiong Yang, additional, Le Fevre, Anna, additional, Jin, Danqun, additional, Yaplito‐Lee, Joy, additional, Lee, Beom Hee, additional, Low, Karen J., additional, Mallick, Andrew A., additional, Õunap, Katrin, additional, Pitt, James, additional, Reardon, William, additional, Vals, Mari‐Anne, additional, Wortmann, Saskia B., additional, Wessels, Hans J. C. T., additional, Bärenfänger, Melissa, additional, van Karnebeek, Clara D. M., additional, and Lefeber, Dirk J., additional

Published
2023
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29. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

Author

Vos, Niels, Reilly, Jack, Elting, Mariet W., Campeau, Philippe M., Coman, David, Stark, Zornitza, Tan, Tiong Yang, Amor, David J., Kaur, Simran, StJohn, Miya, Morgan, Angela T., Kamien, Benjamin A., Patel, Chirag, Tedder, Matthew L., Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Zeev, Bruria Ben, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel, Levy, Michael A., Relator, Raissa, Alders, Marielle, Sadikovic, Bekim, Human genetics, and Amsterdam Reproduction & Development (AR&D)

Abstract

Accurate diagnosis for patients living with neurodevelopmental disorders is often met with numerous challenges, related to the ambiguity of findings and lack of specificity in genetic variants leading to pathology. Genome-wide DNA methylation analysis has been used to develop highly sensitive and specific 'episignatures' as biomarkers capable of differentiating and classifying complex neurodevelopmental disorders. In this study we describe distinct episignatures for KAT6A syndrome, caused by pathogenic variants in the lysine acetyltransferase A gene (KAT6A), and for the two neurodevelopmental disorders associated with lysine acetyl transferase B (KAT6B). We demonstrate the ability of our models to differentiate between highly overlapping episignatures, increasing the ability to effectively identify and diagnose these conditions.

Published
2023
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30. Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Author

Francis, David I., primary, Stark, Zornitza, additional, Scheffer, Ingrid E., additional, Tan, Tiong Yang, additional, Murali, Krithika, additional, Gallacher, Lyndon, additional, Amor, David J., additional, Goel, Himanshu, additional, Downie, Lilian, additional, Stutterd, Chloe A., additional, Krzesinski, Emma I., additional, Vasudevan, Anand, additional, Oertel, Ralph, additional, Petrovic, Vida, additional, Boys, Amber, additional, Wei, Vivian, additional, Burgess, Trent, additional, Dun, Karen, additional, Oliver, Karen L., additional, Baxter, Anne, additional, Hackett, Anna, additional, Ayres, Samantha, additional, Lunke, Sebastian, additional, Kalitsis, Paul, additional, and Wall, Meaghan, additional

Published
2022
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31. The diverse pleiotropic effects of spliceosomal protein PUF60 : A case series of Verheij syndrome

Author

Fennell, Andrew Paul, primary, Baxter, Anne Elizabeth, additional, Berkovic, Samuel Frank, additional, Ellaway, Carolyn Jane, additional, Forwood, Caitlin, additional, Hildebrand, Michael Stephen, additional, Kumble, Smitha, additional, McKeown, Colina, additional, Mowat, David, additional, Poke, Gemma, additional, Rajagopalan, Sulekha, additional, Regan, Brigid M., additional, Scheffer, Ingrid Eileen, additional, Stark, Zornitza, additional, Stutterd, Chloe Alice, additional, Tan, Tiong Yang, additional, Wilkins, Ella Jane, additional, Yeung, Alison, additional, and Hunter, Matthew Frank, additional

Published
2022
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33. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author

Brain, Genetica Klinische Genetica, van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J M, Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D N, Barakat, Tahsin Stefan, Bebin, E Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J, Brunet, Theresa, Brunner, Han G, Campeau, Philippe M, Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B, Hüning, Irina, Husain, Ralf A, Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C, Ockeloen, Charlotte W, Pais, Lynn S, Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M C, Simon, Marleen E H, Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L, de Vries, Bert B A, Wilkins, Ella J, Willemsen, Marjolein H, Francks, Clyde, Vissers, Lisenka E L M, Fisher, Simon E, Kleefstra, Tjitske, Brain, Genetica Klinische Genetica, van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J M, Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D N, Barakat, Tahsin Stefan, Bebin, E Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J, Brunet, Theresa, Brunner, Han G, Campeau, Philippe M, Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B, Hüning, Irina, Husain, Ralf A, Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C, Ockeloen, Charlotte W, Pais, Lynn S, Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M C, Simon, Marleen E H, Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L, de Vries, Bert B A, Wilkins, Ella J, Willemsen, Marjolein H, Francks, Clyde, Vissers, Lisenka E L M, Fisher, Simon E, and Kleefstra, Tjitske

Published
2022

36. MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases.

Author

Post, Merel A., de Wit, Isis, Zijlstra, Fokje S. M., Engelke, Udo F. H., van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito‐Lee, Joy, Lee, Beom Hee, Low, Karen J., Mallick, Andrew A., Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari‐Anne, Wortmann, Saskia B., Wessels, Hans J. C. T., and Bärenfänger, Melissa

Abstract

Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N‐glycosylation can be detected by transferrin screening, however, MOGS‐CDG escapes this routine screening. Combined with the clinical heterogeneity of reported cases, diagnosing MOGS‐CDG can be challenging. Here, we clinically characterize ten MOGS‐CDG cases including six previously unreported individuals, showing a phenotype characterized by dysmorphic features, global developmental delay, muscular hypotonia, and seizures in all patients and in a minority vision problems and hypogammaglobulinemia. Glycomics confirmed accumulation of a Glc3Man7GlcNAc2 glycan in plasma. For quantification of the diagnostic Glcα1‐3Glcα1‐3Glcα1‐2Man tetrasaccharide in urine, we developed and validated a liquid chromatography‐mass spectrometry method of 2‐aminobenzoic acid (2AA) labeled urinary glycans. As an internal standard, isotopically labeled 13C6‐2AA Glc3Man was used, while labeling efficiency was controlled by use of 12C6‐2AA and 13C6‐2AA labeled laminaritetraose. Recovery, linearity, intra‐ and interassay coefficients of variability of these labeled compounds were determined. Furthermore, Glc3Man was specifically identified by retention time matching against authentic MOGS‐CDG urine and compared with Pompe urine. Glc3Man was increased in all six analyzed cases, ranging from 34.1 to 618.0 μmol/mmol creatinine (reference <5 μmol). In short, MOGS‐CDG has a broad manifestation of symptoms but can be diagnosed with the use of a quantitative method for analysis of urinary Glc3Man excretion. [ABSTRACT FROM AUTHOR]

Published
2023
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37. How the Australian Functional Genomics Network (AFGN) contributes to improved patient care

Author

Scott, Hamish S., Matotek, Ebony, Mattiske, Tessa, Bryson-Richardson, Robert J., Smyth, Ian, Gecz, Jozef, Christodoulou, John, Palpant, Nathan, Smith, Kelly, Warr, Coral, Bennetts, Bruce, Thomas, Paul, Bowles, Josephine, Hilliard, Massimo, Hime, Gary, Hool, Livia, Quinn, Leonie, Wolvetang, Ernst, Jamieson, Robyn, Baynam, Gareth, Dudding-Byth, Tracy, Tan, Tiong Yang, Milnes, Di, Wallis, Mathew, Palmer, Elizabeth, Patel, Chirag, Jones, Kristi, Tam, Patrick, Stark, Zornitza, Dunwoodie, Sally, and Sinclair, Andrew

Published
2024
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38. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

Author

Cloney, Thomas, primary, Gallacher, Lyndon, additional, Pais, Lynn S, additional, Tan, Natalie B, additional, Yeung, Alison, additional, Stark, Zornitza, additional, Brown, Natasha J, additional, McGillivray, George, additional, Delatycki, Martin B, additional, de Silva, Michelle G, additional, Downie, Lilian, additional, Stutterd, Chloe A, additional, Elliott, Justine, additional, Compton, Alison G, additional, Lovgren, Alysia, additional, Oertel, Ralph, additional, Francis, David, additional, Bell, Katrina M, additional, Sadedin, Simon, additional, Lim, Sze Chern, additional, Helman, Guy, additional, Simons, Cas, additional, Macarthur, Daniel G, additional, Thorburn, David R, additional, O'Donnell-Luria, Anne H, additional, Christodoulou, John, additional, White, Susan M, additional, and Tan, Tiong Yang, additional

Published
2021
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39. Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

Author

van der Spek, Jet, primary, den Hoed, Joery, additional, Snijders Blok, Lot, additional, Dingemans, Alexander J. M., additional, Schijven, Dick, additional, Nellaker, Christoffer, additional, Venselaar, Hanka, additional, Barakat, Tahsin Stefan, additional, Bebin, E. Martina, additional, Beck-Wödl, Stefanie, additional, Beunders, Gea, additional, Brown, Natasha J., additional, Brunet, Theresa, additional, Brunner, Han G., additional, Campeau, Philippe M., additional, Čuturilo, Goran, additional, Gilissen, Christian, additional, Haack, Tobias B., additional, Husain, Ralf A., additional, Kamien, Benjamin, additional, Lim, Sze Chern, additional, Lovrecic, Luca, additional, Magg, Janine, additional, Maver, Ales, additional, Miranda, Valancy, additional, Monteil, Danielle C., additional, Ockeloen, Charlotte W., additional, Pais, Lynn S., additional, Plaiasu, Vasilica, additional, Raiti, Laura, additional, Richmond, Christopher, additional, Rieß, Angelika, additional, Schwaibold, Eva M. C., additional, Simon, Marleen E. H., additional, Spranger, Stephanie, additional, Tan, Tiong Yang, additional, Thompson, Michelle L., additional, de Vries, Bert B.A., additional, Wilkins, Ella J., additional, Willemsen, Marjolein H., additional, Francks, Clyde, additional, Vissers, Lisenka E. L. M., additional, Fisher, Simon E., additional, and Kleefstra, Tjitske, additional

Published
2021
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40. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

Author

White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., and Kernohan, Kristin D.

Published
2021
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41. Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Author

Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, and Bonafé, Luisa

Published
2009
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42. Response to Hamosh et al.

Author

Biesecker, Leslie G., primary, Adam, Margaret P., additional, Alkuraya, Fowzan S., additional, Amemiya, Anne R., additional, Bamshad, Michael J., additional, Beck, Anita E., additional, Bennett, James T., additional, Bird, Lynne M., additional, Carey, John C., additional, Chung, Brian, additional, Clark, Robin D., additional, Cox, Timothy C., additional, Curry, Cynthia, additional, Dinulos, Mary Beth Palko, additional, Dobyns, William B., additional, Giampietro, Philip F., additional, Girisha, Katta M., additional, Glass, Ian A., additional, Graham, John M., additional, Gripp, Karen W., additional, Haldeman-Englert, Chad R., additional, Hall, Bryan D., additional, Innes, A. Micheil, additional, Kalish, Jennifer M., additional, Keppler-Noreuil, Kim M., additional, Kosaki, Kenjiro, additional, Kozel, Beth A., additional, Mirzaa, Ghayda M., additional, Mulvihill, John J., additional, Nowaczyk, Malgorzata J.M., additional, Pagon, Roberta A., additional, Retterer, Kyle, additional, Rope, Alan F., additional, Sanchez-Lara, Pedro A., additional, Seaver, Laurie H., additional, Shieh, Joseph T., additional, Slavotinek, Anne M., additional, Sobering, Andrew K., additional, Stevens, Cathy A., additional, Stevenson, David A., additional, Tan, Tiong Yang, additional, Tan, Wen-Hann, additional, Tsai, Anne C., additional, Weaver, David D., additional, Williams, Marc S., additional, Zackai, Elaine, additional, and Zarate, Yuri A., additional

Published
2021
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43. Pathogenic variants inSMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Author

Li, Dong, primary, Wang, Qin, additional, Gong, Naihua N., additional, Kurolap, Alina, additional, Feldman, Hagit Baris, additional, Boy, Nikolas, additional, Brugger, Melanie, additional, Grand, Katheryn, additional, McWalter, Kirsty, additional, Guillen Sacoto, Maria J., additional, Wakeling, Emma, additional, Hurst, Jane, additional, March, Michael E., additional, Bhoj, Elizabeth J., additional, Nowaczyk, Małgorzata J. M., additional, Gonzaga-Jauregui, Claudia, additional, Mathew, Mariam, additional, Dava-Wala, Ashita, additional, Siemon, Amy, additional, Bartholomew, Dennis, additional, Huang, Yue, additional, Lee, Hane, additional, Martinez-Agosto, Julian A., additional, Schwaibold, Eva M. C., additional, Brunet, Theresa, additional, Choukair, Daniela, additional, Pais, Lynn S., additional, White, Susan M., additional, Christodoulou, John, additional, Brown, Dana, additional, Lindstrom, Kristin, additional, Grebe, Theresa, additional, Tiosano, Dov, additional, Kayser, Matthew S., additional, Tan, Tiong Yang, additional, Deardorff, Matthew A., additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional

Published
2021
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44. Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

Author

Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., and Newbury-Ecob, Ruth

Abstract

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

Published
2020
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45. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Author

Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Baxter, Peter, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M., Blau, Nenad, Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Brunner, Han G., Burke, Christopher J., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Hennekam, Raoul C., Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, van der Knaap, Marjo S., Kornberg, Andrew J., Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J., Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McClure, John P., McWilliam, Robert, Melancon, Serge B., Mewasingh, Leena D., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rosser, Elisabeth M., Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Soler, Doriette, Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S.H., Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Zuberi, Sameer M., Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, and Crow, Yanick J.

Published
2007
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46. The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep

Author

Gong, Naihua N., primary, Dilley, Leela Chakravarti, additional, Williams, Charlette E., additional, Moscato, Emilia H., additional, Szuperak, Milan, additional, Wang, Qin, additional, Jensen, Matthew, additional, Girirajan, Santhosh, additional, Tan, Tiong Yang, additional, Deardorff, Matthew A., additional, Li, Dong, additional, Song, Yuanquan, additional, and Kayser, Matthew S., additional

Published
2021
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49. Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Author

Kennedy, Joanna, primary, Goudie, David, additional, Blair, Edward, additional, Chandler, Kate, additional, Joss, Shelagh, additional, McKay, Victoria, additional, Green, Andrew, additional, Armstrong, Ruth, additional, Lees, Melissa, additional, Kamien, Benjamin, additional, Hopper, Bruce, additional, Tan, Tiong Yang, additional, Yap, Patrick, additional, Stark, Zornitza, additional, Okamoto, Nobuhiko, additional, Miyake, Noriko, additional, Matsumoto, Naomichi, additional, Macnamara, Ellen, additional, Murphy, Jennifer L., additional, McCormick, Elizabeth, additional, Hakonarson, Hakon, additional, Falk, Marni J., additional, Li, Dong, additional, Blackburn, Patrick, additional, Klee, Eric, additional, Babovic-Vuksanovic, Dusica, additional, Schelley, Susan, additional, Hudgins, Louanne, additional, Kant, Sarina, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Bradbury, Kimberley, additional, Williams, Mark, additional, Patel, Chirag, additional, Heussler, Helen, additional, Duff-Farrier, Celia, additional, Lakeman, Phillis, additional, Scurr, Ingrid, additional, Kini, Usha, additional, Elting, Mariet, additional, Reijnders, Margot, additional, Schuurs-Hoeijmakers, Janneke, additional, Wafik, Mohamed, additional, Blomhoff, Anne, additional, Ruivenkamp, Claudia A.L., additional, Nibbeling, Esther, additional, Dingemans, Alexander J.M., additional, Douine, Emilie D., additional, Nelson, Stanley F., additional, Hempel, Maja, additional, Bierhals, Tatjana, additional, Lessel, Davor, additional, Johannsen, Jessika, additional, Arboleda, Valerie A., additional, and Newbury-Ecob, Ruth, additional

Published
2020
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50. Pathogenic variants inSMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Author

Li, Dong, primary, Wang, Qin, additional, Gong, Naihua N., additional, Kurolap, Alina, additional, Feldman, Hagit Baris, additional, Boy, Nikolas, additional, Brugger, Melanie, additional, Grand, Katheryn, additional, McWalter, Kirsty, additional, Guillen Sacoto, Maria J., additional, Wakeling, Emma, additional, Hurst, Jane, additional, March, Michael E., additional, Bhoj, Elizabeth J., additional, Nowaczyk, Małgorzata J.M., additional, Gonzaga-Jauregui, Claudia, additional, Mathew, Mariam, additional, Dava-Wala, Ashita, additional, Siemon, Amy, additional, Bartholomew, Dennis, additional, Huang, Yue, additional, Lee, Hane, additional, Martinez, Julian A, additional, Schwaibold, Eva M.C., additional, Brunet, Theresa, additional, Choukair, Daniela, additional, Pais, Lynn S., additional, White, Susan M, additional, Christodoulou, John, additional, Brown, Dana, additional, Lindstrom, Kristin, additional, Grebe, Theresa, additional, Tiosano, Dov, additional, Kayser, Matthew S., additional, Tan, Tiong Yang, additional, Deardorff, Matthew A., additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional

Published
2020
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