DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A / KAT6B variants von 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

Volltext

A genetic diagnostic approach to infantile epileptic encephalopathies von Kamien, Benjamin A, Cardamone, Michael, Lawson, John A, Sachdev, Rani

Volltext

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants. Supplementary Figure and Tables von Vos, Niels, Reilly, Jack, W Elting, Mariet, M Campeau, Philippe, Coman, David, Stark, Zornitza, Yang Tan, Tiong, J Amor, David, Kaur, Simran, St John, Miya, T Morgan, Angela, A Kamien, Benjamin, Patel, Chirag, L Tedder, Matthew, Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Ben-Zeev, Bruria, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel, A Levy, Michael, Relator, Raissa, Alder, Marielle

Volltext bestellen

Saddle-splay screening and chiral symmetry breaking in toroidal nematics von Koning, Vinzenz, van Zuiden, Benjamin C, Kamien, Randall D, Vitelli, Vincenzo

Volltext

Health economic aspects of inherited retinal diseases: looking for cost‐effective treatments von Kamien, Benjamin, Heath Jeffery, Rachael, Chen, Fred K

Volltext

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia von Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M

Volltext

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis von Ewans, Lisa J, Minoche, Andre E, Schofield, Deborah, Shrestha, Rupendra, Puttick, Clare, Zhu, Ying, Drew, Alexander, Gayevskiy, Velimir, Elakis, George, Walsh, Corrina, Adès, Lesley C, Colley, Alison, Ellaway, Carolyn, Evans, Carey-Anne, Freckmann, Mary-Louise, Goodwin, Linda, Hackett, Anna, Kamien, Benjamin, Kirk, Edwin P, Lipke, Michelle, Mowat, David, Palmer, Elizabeth, Rajagopalan, Sulekha, Ronan, Anne, Sachdev, Rani, Stevenson, William, Turner, Anne, Wilson, Meredith, Worgan, Lisa, Morel-Kopp, Marie-Christine, Field, Michael, Buckley, Michael F, Cowley, Mark J, Dinger, Marcel E, Roscioli, Tony

Volltext

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants von 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., Newbury-Ecob, Ruth

Volltext

Revealing hidden genetic diagnoses in the ocular anterior segment disorders von Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

Volltext

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature von Le Fevre, Anna, Beygo, Jasmin, Silveira, Cheryl, Kamien, Benjamin, Clayton‐Smith, Jill, Colley, Alison, Buiting, Karin, Dudding‐Byth, Tracy

Volltext

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants von Dyne Steel, Dora Batia, Danti, Federica Rachele, Abunada, Mohamed, Kamien, Benjamin, Malhotra, Sony, Topf, Maya, Kaliakatsos, Marios, Valentine, Jane, Nemeth, Andrea Hilary, Jayawant, Sandeep, Reid, Kimberley M, Mankad, Kshitij, Sudhakar, Sniya, Ben-Pazi, Hilla, Barwick, Katy, Kurian, Manju A

Volltext

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing von Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.

Volltext

Integrated multi-omics for rapid rare disease diagnosis on a national scale von Lunke, Sebastian, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A., Wilson, Meredith, Pinner, Jason, Hunter, Matthew F., Barnett, Christopher P., Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y., Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S., Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R., Scott, Hamish S., Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R., de Silva, Michelle G., Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J., Sikora, Tim, Semcesen, Liana N., Stroud, David A., Compton, Alison G., Thorburn, David R., Bell, Katrina M., Sadedin, Simon, North, Kathryn N., Christodoulou, John, Stark, Zornitza

Volltext

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B von Kamien, Benjamin, Clayton, Joshua S., Lee, Han-Shin, Abeysuriya, Disna, McNamara, Elyshia, Martinovic, Jelena, Gonzales, Marie, Melki, Judith, Ravenscroft, Gianina

Volltext

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing von Ball, Megan, Bouffler, Sophie E., Barnett, Christopher B., Freckmann, Mary-Louise, Hunter, Matthew F., Kamien, Benjamin, Kassahn, Karin S., Lunke, Sebastian, Patel, Chirag V., Pinner, Jason, Roscioli, Tony, Sandaradura, Sarah A., Scott, Hamish S., Tan, Tiong Y., Wallis, Mathew, Compton, Alison G., Thorburn, David R., Stark, Zornitza, Christodoulou, John

Volltext

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants von Steel, Dora Batia Dyne, Danti, Federica Rachele, Abunada, Mohamed, Kamien, Benjamin, Malhotra, Sony, Topf, Maya, Kaliakatsos, Marios, Valentine, Jane, Nemeth, Andrea Hilary, Jayawant, Sandeep, Reid, Kimberley M., Mankad, Kshitij, Sudhakar, Sniya, Ben-Pazi, Hilla, Barwick, Katy, Kurian, Manju A.

Volltext

Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia von Ong, Royston, Edwards, Samantha, Howting, Denise, Kamien, Benjamin, Harrop, Karen, Ravenscroft, Gianina, Davis, Mark, Fietz, Michael, Pachter, Nicholas, Beilby, John, Laing, Nigel

Volltext

Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing von Ball, Megan, Bouffler, Sophie E., Barnett, Christopher B., Freckmann, Mary-Louise, Hunter, Matthew F., Kamien, Benjamin, Kassahn, Karin S., Lunke, Sebastian, Patel, Chirag V., Pinner, Jason, Roscioli, Tony, Sandaradura, Sarah A., Scott, Hamish S., Tan, Tiong Y., Wallis, Mathew, Compton, Alison G., Thorburn, David R., Stark, Zornitza, Christodoulou, John

Volltext

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders von Ravindran, Ethiraj, Jühlen, Ramona, Vieira-Vieira, Carlos H, Ha, Thuong, Salzberg, Yuval, Fichtman, Boris, Luise-Becker, Lena, Martins, Nuno, Picker-Minh, Sylvie, Bessa, Paraskevi, Arts, Peer, Jackson, Matilda R, Taranath, Ajay, Kamien, Benjamin, Barnett, Christopher, Li, Na, Tarabykin, Victor, Stoltenburg-Didinger, Gisela, Harel, Amnon, Selbach, Matthias, Dickmanns, Achim, Fahrenkrog, Birthe, Hu, Hao, Scott, Hamish, Kaindl, Angela M

Volltext

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders von Moey, Ching, Hinze, Susan J, Brueton, Louise, Morton, Jenny, McMullan, Dominic J, Kamien, Benjamin, Barnett, Christopher P, Brunetti-Pierri, Nicola, Nicholl, Jillian, Gecz, Jozef, Shoubridge, Cheryl

Volltext