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Items: 16

1.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic
HGG Adv. 2022 Jan 13; 3(1): 100075. Published online 2021 Dec 3. doi: 10.1016/j.xhgg.2021.100075
PMCID:
PMC8756545
ArticlePDF–4.3M
2.
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study
C.M. de Geus, J.E.H. Bergman, C.M.A. van Ravenswaaij-Arts, L.C. Meiners
AJNR Am J Neuroradiol. 2018 Oct; 39(10): 1938–1942. doi: 10.3174/ajnr.A5810
PMCID:
PMC7410728
ArticlePDF–453K
3.
CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation
Manogari Chetty, Tina Sharon Roberts, Mona Elmubarak, Heidre Bezuidenhout, Liani Smit, Mike Urban
Head Face Med. 2020; 16: 10. Published online 2020 May 8. doi: 10.1186/s13005-020-00224-4
PMCID:
PMC7206710
ArticlePDF–5.8M
4.
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries
Conny van Ravenswaaij-Arts, Donna M. Martin
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Jun 24.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2017 Dec; 175(4): 397–406. Published online 2017 Nov 24. doi: 10.1002/ajmg.c.31592
PMCID:
PMC6591023
ArticlePDF–353K
5.
Reproductive Endocrine Phenotypes relating to CHD7 mutations in humans
Ravikumar Balasubramanian, William F. Crowley, Jr.
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2018 Dec 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2017 Dec; 175(4): 507–515. Published online 2017 Nov 20. doi: 10.1002/ajmg.c.31585
PMCID:
PMC5790312
ArticlePDF–273K
6.
Guidelines in CHARGE syndrome and the missing link: Cranial imaging
Christa M. de Geus, Rolien H. Free, Berit M. Verbist, Deborah A. Sival, Kim D. Blake, Linda C. Meiners, Conny M. A. van Ravenswaaij‐Arts
Am J Med Genet C Semin Med Genet. 2017 Dec; 175(4): 450–464. Published online 2017 Nov 23. doi: 10.1002/ajmg.c.31593
PMCID:
PMC5765497
ArticlePDF–2.0M
7.
Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region
Alex P. A. Donovan, Tian Yu, Jacob Ellegood, Kimberley L. H. Riegman, Christa de Geus, Conny van Ravenswaaij-Arts, Cathy Fernandes, Jason P. Lerch, M. Albert Basson
Front Neuroanat. 2017; 11: 86. Published online 2017 Oct 4. doi: 10.3389/fnana.2017.00086
PMCID:
PMC5632662
ArticlePDF–3.0M
8.
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity
Nicole Corsten-Janssen, Conny M.A. van Ravenswaaij-Arts, Livia Kapusta
Int J Cardiol Heart Vasc. 2016 Sep; 12: 21–25. Published online 2016 May 25. doi: 10.1016/j.ijcha.2016.05.015
PMCID:
PMC5454153
ArticlePDF–234K
9.
CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery
A. C. Vesseur, B. M. Verbist, H. E. Westerlaan, F. J. J. Kloostra, R. J. C. Admiraal, C. M. A. van Ravenswaaij-Arts, R. H. Free, E. A. M. Mylanus
Eur Arch Otorhinolaryngol. 2016; 273(12): 4225–4240. Published online 2016 Jun 20. doi: 10.1007/s00405-016-4141-z
PMCID:
PMC5104824
ArticlePDF–3.1M
10.
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria
CL Hale, AN Niederriter, GE Green, DM Martin
Am J Med Genet A. Author manuscript; available in PMC 2017 Feb 1.
Published in final edited form as: Am J Med Genet A. 2016 Feb; 170A(2): 344–354. Published online 2015 Nov 21. doi: 10.1002/ajmg.a.37435
PMCID:
PMC5102387
ArticlePDF–1.5M
11.
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
Gina L O'Grady, Alan Ma, Deborah Sival, Monica T Y Wong, Tony Peduto, Manoj P Menezes, Helen Young, Leigh Waddell, Roula Ghaoui, Merrilee Needham, Monkol Lek, Kathryn N North, Daniel G MacArthur, Conny MA van Ravenswaaij-Arts, Nigel F Clarke
Eur J Hum Genet. 2016 Aug; 24(8): 1216–1219. Published online 2016 Jan 27. doi: 10.1038/ejhg.2015.276
PMCID:
PMC4970689
ArticlePDF–586K
12.
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study
Monica T. Y. Wong, Annechien J. A. Lambeck, Mirjam van der Burg, Sacha la Bastide-van Gemert, Lianne A. Hogendorf, Conny M. A. van Ravenswaaij-Arts, Elisabeth H. Schölvinck
PLoS One. 2015; 10(11): e0142350. Published online 2015 Nov 6. doi: 10.1371/journal.pone.0142350
PMCID:
PMC4636349
ArticlePDF–461K
13.
CHARGE syndrome: a review of the immunological aspects
Monica TY Wong, Elisabeth H Schölvinck, Annechien JA Lambeck, Conny MA van Ravenswaaij-Arts
Eur J Hum Genet. 2015 Oct; 23(11): 1451–1459. Published online 2015 Feb 18. doi: 10.1038/ejhg.2015.7
PMCID:
PMC4613462
ArticlePDF–741K
14.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
ArticlePDF–960K
15.
CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome
MCJ Jongmans, CMA van Ravenswaaij-Arts, N Pitteloud, T Ogata, N Sato, HL Claahsen-van der Grinten, K van der Donk, S Seminara, JEH Bergman, HG Brunner, WF Crowley, Jr, LH Hoefsloot
Clin Genet. Author manuscript; available in PMC 2010 Apr 13.
Published in final edited form as: Clin Genet. 2009 Jan; 75(1): 65–71. Published online 2008 Nov 17. doi: 10.1111/j.1399-0004.2008.01107.x
PMCID:
PMC2854009
ArticlePDF–81K
16.
Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation
Seema R. Lalani, Arsalan M. Safiullah, Susan D. Fernbach, Karine G. Harutyunyan, Christina Thaller, Leif E. Peterson, John D. McPherson, Richard A. Gibbs, Lisa D. White, Margaret Hefner, Sandra L. H. Davenport, John M. Graham, Carlos A. Bacino, Nancy L. Glass, Jeffrey A. Towbin, William J. Craigen, Steven R. Neish, Angela E. Lin, John W. Belmont
Am J Hum Genet. 2006 Feb; 78(2): 303–314. Published online 2005 Dec 29. doi: 10.1086/500273
PMCID:
PMC1380237
ArticlePDF–2.7M

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