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Hypothelia, syndactyly, and ear malformation-A variant of the scalp-ear-nipple syndrome ? : Case report and review of the literatureBARIS, Hagit; TAN, Wen-Hann; KIMONIS, Virginia E et al.American journal of medical genetics. 2005, Vol 134A, Num 2, pp 220-222, issn 0148-7299, 3 p.Article

Duplication of 5q15-q23.2 : Case report and literature reviewDOUYARD, Jaclyn; HAWLEY, Pamela; SHAHAM, Meira et al.Birth defects research. Clinical and molecular teratology. 2006, Vol 76, Num 4, pp 272-276, issn 1542-0752, 5 p.Article

Autosomal dominant inclusion body myopathy, paget disease of bone, and frontotemporal dementiaKIMONIS, Virginia E; WATTS, Giles D. J.Alzheimer disease and associated disorders. 2005, Vol 19, pp S44-S47, issn 0893-0341, SUP1Conference Paper

Mild phenotype due to tandem duplication of 17p11.2SCHNEIDER, Michael C; HUGHES, Christopher R; FORRESTER, Shawnia et al.American journal of medical genetics. 2000, Vol 94, Num 4, pp 296-299, issn 0148-7299Article

Subglossopalatal Synechia in Association With Cardiac and Digital AnomaliesOH, Albert K; THAKURIA, Joseph; KIMONIS, Virginia et al.The Cleft palate-craniofacial journal. 2008, Vol 45, Num 2, pp 217-221, issn 1055-6656, 5 p.Article

Immunoglobulin deficiency in stickler syndromeMIKHAK, Zamaneh; KELLY, Pamela; COHEN, Tatyana S et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 24, pp 2824-2827, issn 1552-4825, 4 p.Article

Fryns syndrome with hirschsprung disease : Support for possible neural crest involvementALKURAYA, Fowzan S; LIN, Angela E; IRONS, Mira B et al.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 226-230, issn 0148-7299, 5 p.Article

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literatureROBERTS, Amy E; COX, Gerald F; KIMONIS, Virginia et al.American journal of medical genetics. 2004, Vol 128A, Num 4, pp 352-363, issn 0148-7299, 12 p.Article

Atypical cases of angelman syndromeLAWSON-YUEN, Amy; WU, Bai-Lin; LIP, Va et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 21, pp 2361-2364, issn 1552-4825, 4 p.Article

Humoral Immune Deficiency and Hemifacial Microsomia Seen in One FamilyMIKHAK, Zamaneh; MULLIKEN, John B; LEE, John et al.The Cleft palate-craniofacial journal. 2009, Vol 46, Num 5, pp 477-480, issn 1055-6656, 4 p.Article

Laryngo-oncho-cutnaneous SyndromeCHOI KIM, Caroline; LIANG, Marilyn G; PFENDNER, Ellen et al.Pediatric dermatology. 2007, Vol 24, Num 3, pp 306-308, issn 0736-8046, 3 p.Article

Diagnostic utility of array-based comparative genomic hybridization in a clinical settingBARIS, Hagit N; TAN, Wen-Hann; KIMONIS, Virginia E et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 21, pp 2523-2533, issn 1552-4825, 11 p.Article

Cockayne syndrome : The developing phenotypeTAN, Wen-Hann; BARIS, Hagit; ROBSON, Caroline D et al.American journal of medical genetics. 2005, Vol 135A, Num 2, pp 214-216, issn 0148-7299, 3 p.Article

Smith-Lemli-Opitz syndrome in trisomy 13 : How does the mix work?ALKURAYA, Fowzan S; PICKER, Jonathan; IRONS, Mira B et al.Birth defects research. Clinical and molecular teratology. 2005, Vol 73, Num 8, pp 569-571, issn 1542-0752, 3 p.Article

Polymicrogyria and deletion 22q11.2 syndrome : Window to the etiology of a common cortical malformationROBIN, Nathaniel H; TAYLOR, Clare J; KATZ, Naomi et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 22, pp 2416-2425, issn 1552-4825, 10 p.Article

Growth Standards of Infants With Prader-Willi SyndromeBUTLER, Merlin G; STURICH, Jennifer; LEE, Jaehoon et al.Pediatrics (Evanston). 2011, Vol 127, Num 4, pp 687-695, issn 0031-4005, 9 p.Article

Mutant valosin-containing protein causes a novel type of frontotemporal dementiaSCHRÖDER, Rolf; WATTS, Giles D. J; MEHTA, Sarju G et al.Annals of neurology. 2005, Vol 57, Num 3, pp 457-461, issn 0364-5134, 5 p.Article

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH : molecular characterization and genotype-phenotype correlationsSAHOO, Trilochan; BACINO, Carlos A; GERMAN, Jennifer R et al.European journal of human genetics. 2007, Vol 15, Num 9, pp 943-949, issn 1018-4813, 7 p.Article

Muenke Syndrome (FGFR3-Related Craniosynostosis) : Expansion of the Phenotype and Review of the LiteratureDOHERTY, Emily S; LACBAWAN, Felicitas; BROOKS, Brian P et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 24, pp 3204-3215, issn 1552-4825, 12 p.Article

Progressive cavitating leukoencephalopathy : A novel childhood diseaseNAIDU, Sakkubai; BIBAT, Genila; KIMONIS, Virginia et al.Annals of neurology. 2005, Vol 58, Num 6, pp 929-938, issn 0364-5134, 10 p.Article

Double-Blind Therapeutic Trial in Angelman Syndrome Using Betaine and Folic AcidPETERS, Sarika U; BIRD, Lynne M; SANBORN, Erica et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 8, pp 1994-2001, issn 1552-4825, 8 p.Article

Pathological consequences of VCP mutations on human striated muscleHÜBBERS, Christian U; CLEMEN, Christoph S; KRAUSE, Sabine et al.Brain. 2007, Vol 130, pp 381-393, issn 0006-8950, 13 p., 2Article

Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP TranscriptsCAMACHO-VANEGAS, Olga; CATALINA CAMACHO, Sandra; KIMONIS, Virginia et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 614-627, issn 0002-9297, 14 p.Article

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9JUSTICE, Cristina M; YAGNIK, Garima; KIMONIS, Virginia et al.Nature genetics. 2012, Vol 44, Num 12, pp 1360-1364, issn 1061-4036, 5 p.Article