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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Au PYB, et al. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904177 Free PMC article. Review.
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium; Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD. Au PYB, et al. Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26173930 Free PMC article.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study; Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA. Skraban CM, et al. Among authors: au pyb. Am J Hum Genet. 2017 Jul 6;101(1):139-148. doi: 10.1016/j.ajhg.2017.06.002. Am J Hum Genet. 2017. PMID: 28686853 Free PMC article.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: au pyb. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: au pyb. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M. Al-Kateb H, et al. Among authors: au pyb. Clin Genet. 2024 Mar;105(3):294-301. doi: 10.1111/cge.14464. Epub 2023 Dec 3. Clin Genet. 2024. PMID: 38044714
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Blok LS, et al. Among authors: au pyb. Nat Commun. 2019 Feb 15;10(1):883. doi: 10.1038/s41467-019-08800-2. Nat Commun. 2019. PMID: 30770872 Free PMC article.
57 results