Microarray-Based Genomic DNA Profiling Technologies in Clinical Molecular DiagnosticsYIPING SHEN; WU, Bai-Lin.Clinical chemistry (Baltimore, Md.). 2009, Vol 55, Num 4, pp 659-669, issn 0009-9147, 11 p.Article

Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular DiagnosticsYONGGUO YU; WU, Bai-Lin; JIE WU et al.Clinical chemistry (Baltimore, Md.). 2012, Vol 58, Num 11, pp 1507-1509, issn 0009-9147, 3 p.Article

Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemiaQIULAN DING; QI OUYANG; XIAODONG XI et al.Thrombosis and haemostasis. 2012, Vol 108, Num 4, pp 654-661, issn 0340-6245, 8 p.Article

The missense Thr211 Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascadeQIULAN DING; YIPING SHEN; LIKUI YANG et al.Thrombosis and haemostasis. 2013, Vol 110, Num 1, pp 53-61, issn 0340-6245, 9 p.Article

Genetic Testing for Developmental Delay : Keep Searching for an AnswerMILLER, David T; YIPING SHEN; HARRIS, David J et al.Clinical chemistry (Baltimore, Md.). 2009, Vol 55, Num 4, pp 827-832, issn 0009-9147, 6 p.Article

Bonding along a linear B...N...B triadLIVANT, Peter D; NORTHCOTT, D. John D; YIPING SHEN et al.Journal of organic chemistry. 2004, Vol 69, Num 20, pp 6564-6571, issn 0022-3263, 8 p.Article

On the confidential auditing of distributed computing systemsYIPING SHEN; LAM, T. C; LIU, Jyh-Charn et al.International Conference on Distributed Computing Systems. 2004, pp 600-607, isbn 0-7695-2086-3, 1Vol, 8 p.Conference Paper

Expression of SMARCB1 (INI1) mutations in familial schwannomatosisSMITH, Miriam J; WALKER, James A; YIPING SHEN et al.Human molecular genetics (Print). 2012, Vol 21, Num 24, pp 5239-5245, issn 0964-6906, 7 p.Article

Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor a VariantQUAYNOR, Samuel D; STRADTMAN, Earl W; KIM, Hyung-Goo et al.The New England journal of medicine. 2013, Vol 369, Num 2, pp 164-171, issn 0028-4793, 8 p.Article

Monozygotic Twins Discordant for Neurofibromatosis 1KAPLAN, Lee; FOSTER, Rosemary; YIPING SHEN et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 601-606, issn 1552-4825, 6 p.Article

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial AnomaliesKIM, Hyung-Goo; KIM, Hyun-Taek; TALKOWSKI, Michael E et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 56-72, issn 0002-9297, 17 p.Article

Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and ObesityERNST, Carl; MARSHALL, Christian R; CRAPPER, Liam et al.Archives of general psychiatry. 2012, Vol 69, Num 12, pp 1238-1246, issn 0003-990X, 9 p.Article

Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association StudiesSHUHUA XU; XIANYONG YIN; YUNGANG HE et al.American journal of human genetics. 2009, Vol 85, Num 6, pp 762-774, issn 0002-9297, 13 p.Article

Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integrationCHIANG, Colby; JACOBSEN, Jessie C; MCLAUGHLAN, Clive J et al.Nature genetics. 2012, Vol 44, Num 4, pp 390-397, issn 1061-4036, 8 p.Article

The adult galactosemic phenotypeWAISBREN, Susan E; POTTER, Nancy L; D'ANNA, Kali et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 2, pp 279-286, issn 0141-8955, 8 p.Article

Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic DeletionsDAUBER, Andrew; YONGGUO YU; WILSON, James G et al.American journal of human genetics. 2011, Vol 89, Num 6, pp 751-759, issn 0002-9297, 9 p.Article

Cognitive and Behavioral Characterization of 16p11.2 Deletion SyndromeHANSON, Ellen; NASIR, Ramzi H; FONG, Alexa et al.Journal of developmental and behavioral pediatrics. 2010, Vol 31, Num 8, pp 649-657, issn 0196-206X, 9 p.Article

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy ProjectHIGGINS, Anne W; ALKURAYA, Fowzan S; GUSELLA, James F et al.American journal of human genetics. 2008, Vol 82, Num 3, pp 712-722, issn 0002-9297, 11 p.Article

Extensive molecular genetic analysis of the 3p14.3 region in patients with zimmermann-laband syndromeABO-DALO, Benjamin; KIM, Hyung-Goo; ROES, Melanie et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 22, pp 2668-2674, issn 1552-4825, 7 p.Article

Somatic Mutations in Cerebral Cortical MalformationsJAMUAR, Saumya S; LAM, Anh-Thu N; SERVATTALAB, Sarah et al.The New England journal of medicine. 2014, Vol 371, Num 8, pp 733-743, issn 0028-4793, 11 p.Article

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum DisorderTALKOWSKI, Michael E; MULLEGAMA, Sureni V; CHIANG, Colby et al.American journal of human genetics. 2011, Vol 89, Num 4, pp 551-563, issn 0002-9297, 13 p.Article

Intra-Family Phenotypic Heterogeneity of 16p11.2 Deletion Carriers in a Three-Generation Chinese FamilyYIPING SHEN; XIAOLI CHEN; GUSELLA, James F et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2011, Vol 156, Num 2, pp 225-232, issn 1552-4841, 8 p.Article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locusJACQUEMONT, Sébastien; REYMOND, Alexandre; THORLEIFSSON, Gudmar et al.Nature (London). 2011, Vol 478, Num 7367, pp 97-102, issn 0028-0836, 6 p.Article

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic ResearchTALKOWSKI, Michael E; ERNST, Carl; YIPING SHEN et al.American journal of human genetics. 2011, Vol 88, Num 4, pp 469-481, issn 0002-9297, 13 p.Article

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental DisordersCHING, Michael S. L; YIPING SHEN; AUSTIN, Christina et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2010, Vol 153, Num 4, pp 937-947, issn 1552-4841, 11 p.Article