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TypeTitleAuthor(s)YearViews
Phenotypic spectrum associated with PTCHD1 deletion and truncating mutations includes intellectual disability and autism spectrum disorder
Journal:
Clinical Genetics
Chaudhry, A; Noor, A; Degagne, B; Baker, K; Bok, LA; Brady, AF; Chitayat, D; Chung, BHY; Cytrynbaum, C; Dyment, D; Filges, I; Helm, B; Hutchison, HT; Jeng, LJB; Laumonnier, F; Marshall, CR; Menzel, M; Parkash, S; Parker, MJ; The, DDD STUDY; Raymond, FL; Rideout, AL; Roberts, W; Rupps, R; Schanze, I; Schrander-Stumpel, CTRM; Speevak, MD; Stavropoulos, DJ; Stevens, SJC; Thomas, ERA; Toutain, A; Vergano, S; Weksberg, R; Scherer, SW; Vincent, JB; Carter, MT201422
 
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome
Proceedings/Conference:
64th ASHG Annual Meeting 2014
Publisher:
American Society of Human Genetics.
Chonufani, S; Cytrynbaum, C; Chung, BHY; Turinsky, AL; Grafodatskaya, D; Chen, YA; Luk, HM; Lo, IFM; Lam, STS; Stavropoulos, DJ; Gibson, B; Reardon, M; Brudno, M; Mendoza-Londono, R; Chitayat, D; Weksberg, R201422
 
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum
Journal:
American Journal of Medical Genetics. Part A
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/journal/117928899/grouphome/home.html
Chung, BHY; Bradley, T; Grosse-Wortmann, L; Blaser, S; Dirks, P; Hinek, A; Chitayat, D201462
 
Global developmental delay and characteristic facial features associated with PACS1 mutation: report of two cases
Proceedings/Conference:
38th Canadian College of Medical Geneticsits (CCMG) Annual Scientific Meeting 2014
Chad, L; Chung, BHY; Marshall, CR; Merico, D; Babul-Hirji, R; Stavropoulos, J; Chitayat, D201424
 
Agenesis of the corpus callosum and autism associated with ZEB1 gene deletion: a case report
Proceedings/Conference:
38th Canadian College of Medical Geneticsits (CCMG) Annual Scientific Meeting 2014
Inbar-Feigenberg, M; Chung, BHY; Marshall, CR; Merico, D; Stavropoulos, DJ; Chitayat, D201433
 
In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletions
Proceedings/Conference:
American Society of Human Genetics (ASHG), San Digeo, USA, 22-26 October 2013
Rosenfeld, JA; Stoate, K; Asamoah, A; Lebel, RR; Raskin, S; Russell, L; Chitayat, D; Chung, BHY; Ellison, JW; Schimmenti, LA201375
 
A specific DNA methylation signature associated with NSD1+/- mutations in Sotos syndrome reveals a significant genome-wide loss of DNA methylation (DNAm) targeting CGs in regulatory regions of key developmental genes
Proceedings/Conference:
63rd ASHG Annual Meeting 2013
Publisher:
The American Society of Human Genetics.
Choufani, S; Cytrynbaum, C; Turinsky, AL; Chen, YA; Grafodatskaya, D; Xiang, J; Feigenberg, M; Chung, BHY; Stavropoulos, DJ; Mendoza-Londono, R; Chitayat, D; Gibson, WT; Reardon, M; Brudno, M; Weksberg, R201383
 
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum
Proceedings/Conference:
33rd David W. Smith Workshop on Malformations and Morphogenesis, USA, 8-12 August 2012
Chung, BHY; Hinek, A; Bradley, T; Grossse-Wortmann, L; Blaser, S; Chitayat, D201280
 
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
Proceedings/Conference:
62nd Annual Meeting of the American Society of Human Genetics, ASHG 2012
Publisher:
American Society of Human Genetics.
Chung, B; Hinek, A; Bradley, T; Grossse-Wortmann, L; Blaser, S; Chitayat, D201294
 
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?
Journal:
American Journal of Medical Genetics. Part A
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/journal/117928899/grouphome/home.html
Chung, BHY; Hinek, A; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D2012203
 
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
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.lww.com/product/?0962-8827
Chung, BHY; Fernandez, B; Li, C; Chitayat, D2012180
 
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinse activity related to reduced T1MP1: a new syndrome
Proceedings/Conference:
32nd David W. Smith Workshop 2011
Chung, BHY; Hinek, A; Shannon, P; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D2011151
 
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
Journal:
American Journal of Medical Genetics, Part A
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Chung, B; Shaffer, LG; Keating, S; Johnson, J; Casey, B; Chitayat, D2011302
 
Ulnar-Mammary syndrome: expending the phenotype to include ankyloglossia and cleft lip and palate
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2010
Jessen, J; Chung, BHY; Fernandez, B; Li, C; Chitayat, D2010337
 
In-vitro treatment with pravastatin and dexamethasone normalizes abnormal deposition of elastic fibers in dermal fibroblasts derived from patients with Restrictive Dermopathy - Possible therapeutic implications
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2010
Hinek, A; Chung, BHY; Teitelbaum, R; Shannon, P; Chitayat, D2010199
 
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a new syndrome?
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2010
Shah, V; Chung, BHY; Hinek, A; Chitayat, D2010188
 
Fetal forehead hemangiopericytoma: prenatal diagnosis and postnatal outcome
Journal:
Ultrasound in Obstetrics and Gynecology
Publisher:
John Wiley & Sons Ltd.. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0960-7692/
Chung, HYB; Chu, L; Forrest, C; Silver, R; Toi, A; Blaser, S; Viero, S; Taylor, G; Chitayat, D2010247
 
Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging
Journal:
Ultrasound in Obstetrics and Gynecology
Publisher:
John Wiley & Sons Ltd.. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0960-7692/
Chung, BHY; Uster-Friedberg, T; Pentaz, S; Blaser, S; Murphy, K; Chitayat, D2010322
 
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy
Journal:
American Journal of Medical Genetics, Part A
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Lehman, AM; Eydoux, P; Doherty, D; Glass, IA; Chitayat, D; Chung, BYH; Langlois, S; Yong, SL; Lowry, RB; Hildebrandt, F; Trnka, P2010220
 
The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1
Proceedings/Conference:
ASHG Annual Meeting 2009
Brenner, G; Chung, BHY; Shannon, P; Toi, A; Shaffer, L; Chitayat, D200956
 
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