Search Results - "Dudding-Byth Tracy"

IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy by Shoubridge, Cheryl, Harvey, Robert J., Dudding‐Byth, Tracy

“…The IQSEC2‐ related disorders represent a spectrum of X‐chromosome phenotypes with intellectual disability (ID) as the cardinal feature. Here, we review the…”
Get full text

IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain by Shoubridge, Cheryl, Dudding‐Byth, Tracy, Pasquier, Laurent, Goel, Himanshu, Yap, Patrick, McConnell, Vivienne

“…Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual…”
Get full text

Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance by Leffler, Melanie, Christie, Louise, Hackett, Anna, Bennetts, Bruce, Goel, Himanshu, Amor, David J., Peters, Greg B., Field, Michael, Dudding‐Byth, Tracy

“…The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as…”
Get full text

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant by Forwood, Caitlin, Ashton, Katie, Zhu, Ying, Zhang, Futao, Dias, Kerith-Rae, Standen, Krystle, Evans, Carey-Anne, Carey, Louise, Cardamone, Michael, Shalhoub, Carolyn, Katf, Hala, Riveros, Carlos, Hsieh, Tzung-Chien, Krawitz, Peter, Robinson, Peter N, Dudding-Byth, Tracy, Sadikovic, Bekim, Pinner, Jason, Buckley, Michael F, Roscioli, Tony

“…Heterozygous ARID1B variants result in Coffin-Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia,…”
Get full text

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum by Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

“…POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and…”
Get full text

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability by Field, Michael J., Kumar, Raman, Hackett, Anna, Kayumi, Sayaka, Shoubridge, Cheryl A., Ewans, Lisa J., Ivancevic, Atma M., Dudding‐Byth, Tracy, Carroll, Renée, Kroes, Thessa, Gardner, Alison E., Sullivan, Patricia, Ha, Thuong T., Schwartz, Charles E., Cowley, Mark J., Dinger, Marcel E., Palmer, Elizabeth E., Christie, Louise, Shaw, Marie, Roscioli, Tony, Gecz, Jozef, Corbett, Mark A.

“…The pioneering discovery research of X‐linked intellectual disability (XLID) genes has benefitted thousands of individuals worldwide; however, approximately…”
Get full text

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery by Kumar, Raman, Gardner, Alison, Homan, Claire C., Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann‐Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessica, Parsons, Gretchen, Mark, Paul, Loidi, Lourdes, Herman, Gail E., Mihalic Mosher, Theresa, Gillespie, Meredith K., Brady, Lauren, Tarnopolsky, Mark, Madrigal, Irene, Eiris, Jesús, Domènech Salgado, Laura, Rabionet, Raquel, Strom, Tim M., Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding‐Byth, Tracy, Palmer, Elizabeth E., Field, Michael, Gecz, Jozef

“…Highly conserved TREX‐mediated mRNA export is emerging as a key pathway in neuronal development and differentiation. TREX subunit variants cause…”
Get full text

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

“…Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological…”
Get full text

Experiences of non‐invasive prenatal screening: A survey study by Cornell, Paige, Armstrong, Taylah, Fyfe, Rina, Mallise, Carly A., Dudding‐Byth, Tracy, Campbell, Linda E.

“…Background: In Australia, using non‐invasive prenatal testing (NIPT) to screen for fetal abnormalities is becoming more commonplace. However, there is a lack…”
Get full text

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients by Nguyen, Ngoc Minh Phuong, Khawajkie, Yassemine, Mechtouf, Nawel, Rezaei, Maryam, Breguet, Magali, Kurvinen, Elvira, Jagadeesh, Sujatha, Solmaz, Asli Ece, Aguinaga, Monica, Hemida, Reda, Harma, Mehmet Ibrahim, Rittore, Cécile, Rahimi, Kurosh, Arseneau, Jocelyne, Hovanes, Karine, Clisham, Ronald, Lenzi, Tiffanee, Scurry, Bonnie, Addor, Marie-Claude, Bagga, Rashmi, Nendaz, Genevieve Girardet, Finci, Vildana, Poke, Gemma, Grimes, Leslie, Gregersen, Nerine, York, Kayla, Bolze, Pierre-Adrien, Patel, Chirag, Mozdarani, Hossein, Puechberty, Jacques, Scotchie, Jessica, Fardaei, Majid, Harma, Muge, Gardner, R. J. McKinlay, Sahoo, Trilochan, Dudding-Byth, Tracy, Srinivasan, Radhika, Sauthier, Philippe, Slim, Rima

“…Hydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest and excessive trophoblastic proliferation. Recurrent hydatidiform…”
Get full text

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families by McInerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher P., Anderson, Lisa K., Wheeler, Lawrie, Brown, Matthew A., Leo, Paul J., Wicking, Carol, Duncan, Emma L.

“…ABSTRACT Fryns syndrome is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal digital…”
Get full text

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability by Dudding-Byth, Tracy, Baxter, Anne, Holliday, Elizabeth G, Hackett, Anna, O'Donnell, Sheridan, White, Susan M, Attia, John, Brunner, Han, de Vries, Bert, Koolen, David, Kleefstra, Tjitske, Ratwatte, Seshika, Riveros, Carlos, Brain, Steve, Lovell, Brian C

“…Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes…”
Get full text

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia by 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

“…Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor…”
Get full text

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing by Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K, Aliaga, Solange M, Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G, Palmer, Elizabeth E, Amor, David J, Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E

“…Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (CGG) repeats, and a decrease…”
Get full text

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

“…The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and…”
Get full text

A powerful team: The family physician advocating for patients with a rare disease by Tracy Dudding-Byth

“…Background: Rare diseases are characteristically difficult to diagnose and for the majority, there are no effective treatments or evidence-based management…”
Get full text

A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment by Goh, Shuxiang, Thiyagarajan, Lavvina, Dudding-Byth, Tracy, Mark, Pinese, Kirk, Edwin P.

“…Many copy-number variants (CNVs) are reported to cause a variety of neurodevelopmental disabilities including intellectual disability, developmental delay,…”
Get full text

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome by van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Santen, Gijs W. E.

“…Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing…”
Get full text

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures by Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.

“…Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense…”
Get full text

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation by Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Field, Michael, Orlowski, John

“…Abstract We report two unrelated families with multigenerational nonsyndromic intellectual disability (ID) segregating with a recurrent de novo missense…”
Get full text