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Title	Author(s)	Issue Date	Views
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome Journal:Nature Genetics	Osborne, LR Li, M Pober, B Chitayat, D Bodurtha, J Mandel, A Costa, T Grebe, T Cox, S Tsui, LC Scherer, SW	2001	237
Agenesis of the corpus callosum and autism associated with ZEB1 gene deletion: a case report Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia	Inbar-Feigenberg, M Chung, BHY Marshall, CR Merico, D Stavropoulos, DJ Chitayat, D	2014	40
Agenesis of the corpus callosum, Developmental delay, Autism spectrum disorder, facial dysmorphism, and Posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion Journal:American Journal of Medical Genetics Part A	Chaudhry, A Chung, BHY Stavropoulos, DJ Araya, MP Ali, A Heon, E Chitayat, D	2017	88
Brachytelephalangic chondrodysplasia punctua. A rare X-linked skeletal dysplasia presenting as piriform aperture stenosis and caused by mutation in the arylsulfatase E (ARSE) gene Proceeding/Conference:Annual Meeting of the American Society for Human Genetics, ASHG 2008	Miller, S Chung, BHY Chitayat, D	2008	94
Clinical delineation of the PACS1-related syndrome: report on 19 patients Journal:American Journal of Medical Genetics	Janeke, HM Hoeijmakers, S Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, JA Glass, J Chitayat, D Burrow, TA Husami, A Collins, K Wusik, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernandez-Jaen, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, M van Karnebeek, CDM Stavropoulos, DJ Marshall, CR Gregor, A Zweler, C Hopkin, RJ Chu, WY Chung, BHY de Vries, BBA Devriendt, K DDD, STUDY Huries, ME Brunner, HG	2016	86
Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 Proceeding/Conference:European Human Genetics Conference 2017	Schuurs-Hoeijmakers, JHM Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, A Glass, J Chitayat, D Burrow, TA Husami, A Collins, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernández-Jaén, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, A van Karnebeek, CD Stavropoulos, DJ Marshall, CR Merico, D Gregor, A Zweier, C Hopkin, RJ Chu, YW Chung, BHY de Vries, BB Devriendt, K Hurles, ME Brunner, HG	2017	57
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy Journal:American Journal of Medical Genetics Part A	Lehman, AM Eydoux, P Doherty, D Glass, IA Chitayat, D Chung, BYH Langlois, S Yong, SL Lowry, RB Hildebrandt, F Trnka, P	2010	78
Correspondence: further studies on a kindred reported by Li 2009 as ‘A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred’. From ‘new syndrome’ through EEC to ulnar mammary syndrome (Letter to the Editor) Journal:Clinical Dysmorphology	Chung, BHY Fernandez, B Li, C Chitayat, D	2012	140
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes Journal:The American Journal of Human Genetics	Choufani, S Gibson, WT Turinsky, AL Chung, BHY Wang, T Garg, K Vitriolo, A Cohen, ASA Cyrus, S Goodman, S Chater-Diehl, E Brzezinski, J Brudno, M Luk, HM White, SM Lynch, SA Clericuzio, C Temple, IK Flinter, F MdConnell, V Cushing, T Bird, LM Splitt, M Kerr, B Scherer, SW Machado, J Imagawa, E Okamoto, N Matsumoto, N Testa, G Iascone, M Tenconi, R Caluseriu, O Mendoza-Londono, R Chitayat, D Cytrynabum, C Tatton-Brown, K Weksberg, R	2020	48
Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging Journal:Ultrasound in Obstetrics and Gynecology	Chung, BHY Uster-Friedberg, T Pentaz, S Blaser, S Murphy, K Chitayat, D	2010	154
Fetal forehead hemangiopericytoma: prenatal diagnosis and postnatal outcome Journal:Ultrasound in Obstetrics and Gynecology	Chung, HYB Chu, L Forrest, C Silver, R Toi, A Blaser, S Viero, S Taylor, G Chitayat, D	2010	166
The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Brenner, G Chung, BHY Shannon, P Toi, A Shaffer, L Chitayat, D	2009	44
From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Keating, S Chung, BHY Shaffer, L Chitayat, D	2009	44
From Heterotaxy to VACTERL-H Syndrome - the clinical variability of ZiC3-Relatated Disorders Proceeding/Conference:30th Annual David W. Smith Workshop	Chung, BHY Shaffer, L Keating, S Chitayat, D	2009	20
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders Journal:American Journal of Medical Genetics, Part A	Chung, B Shaffer, LG Keating, S Johnson, J Casey, B Chitayat, D	2011	212
Global developmental delay and characteristic facial features associated with PACS1 mutation: report of two cases Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia	Chad, L Chung, BHY Marshall, CR Merico, D Babul-Hirji, R Stavropoulos, J Chitayat, D	2014	31
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012	Chung, B Hinek, A Bradley, T Grossse-Wortmann, L Blaser, S Chitayat, D	2012	43
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum Proceeding/Conference:33rd Annual David W. Smith Workshop	Chung, BHY Hinek, A Bradley, T Grossse-Wortmann, L Blaser, S Chitayat, D	2012	30
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum Journal:American Journal of Medical Genetics. Part A	Chung, BHY Bradley, T Grosse-Wortmann, L Blaser, S Dirks, P Hinek, A Chitayat, D	2014	49
Heterozygous NOTCH1 deletion associated with variable congenital heart defects Journal:Clinical Genetics	Roifman, M Chung, BHY Reid, DM Teitelbaum, R Martin, N Nield, LE Thompson, M Shannon, P Chitayat, D	2021	15

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