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1. Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. Children (Basel). 2021 Feb 10; 8(2). View abstract
2. Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2020 Oct; 22(10):1731-1732. View abstract
3. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. View abstract
4. Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs. Genes (Basel). 2020 04 02; 11(4). View abstract
5. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. View abstract
6. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 10; 20(10):1105-1113. View abstract
7. Response to Biesecker. Genet Med. 2017 05; 19(5):605. View abstract
8. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 02; 19(2):249-255. View abstract
9. Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. Neonatology. 2017; 111(2):140-144. View abstract
10. Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome. Circulation. 2016 Jul 12; 134(2):114-25. View abstract
11. A Clinician's perspective on clinical exome sequencing. Hum Genet. 2016 06; 135(6):643-54. View abstract
12. Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clin Chem. 2016 06; 62(6):799-806. View abstract
13. A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes. J Clin Endocrinol Metab. 2016 Mar; 101(3):837-40. View abstract
14. GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge. Hum Mutat. 2015 Oct; 36(10):974-8. View abstract
15. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. View abstract
16. Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. Curr Genet Med Rep. 2014 Sep; 2(3):124-134. View abstract
17. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
18. Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology. 2013 Jul 30; 81(5):427-30. View abstract
19. Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities. Genet Med. 2013 Sep; 15(9):706-12. View abstract
20. Whole-genome sequencing: ready for prime time? Clin Chem. 2012 Dec; 58(12):1729-30. View abstract
21. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2012 Oct 09; 109(41):16666-71. View abstract
22. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatr Radiol. 2012 Sep; 42(9):1089-98. View abstract
23. Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status. Curr Protoc Hum Genet. 2012 Jul; Chapter 8:Unit8.12. View abstract
24. Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience. Hum Mutat. 2012 May; 33(5):787-96. View abstract
25. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. View abstract
26. Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. Hypertension. 2012 Jan; 59(1):92-7. View abstract
27. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View abstract
28. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9. View abstract
29. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86. View abstract
30. Hutchinson-Gilford progeria is a skeletal dysplasia. J Bone Miner Res. 2011 Jul; 26(7):1670-9. View abstract
31. Cognitive and behavioral characterization of 16p11.2 deletion syndrome. J Dev Behav Pediatr. 2010 Oct; 31(8):649-57. View abstract
32. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. . 2010 Jun 05; 153B(4):937-47. View abstract
33. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14; 86(5):749-64. View abstract
34. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View abstract
35. Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases. J Mol Diagn. 2010 Mar; 12(2):204-12. View abstract
36. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol Genomics. 2009 Aug 07; 38(3):281-90. View abstract
37. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9. View abstract
38. Genetic testing for developmental delay: keep searching for an answer. Clin Chem. 2009 Apr; 55(4):827-30; discussion 830-2. View abstract
39. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19. View abstract
40. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract
41. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008 Aug; 10(8):586-92. View abstract
42. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Curr Protoc Hum Genet. 2008 Jul; Chapter 8:Unit 8.12. View abstract
43. Oligonucleotide microarrays for clinical diagnosis of copy number variation. Current Protocols in Human Genetics. 2008. View abstract
44. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am. 2008 May; 28(2):387-412, x. View abstract
45. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. View abstract
46. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View abstract
47. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9. View abstract
48. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. . 2007 Aug 01; 143A(15):1679-86. View abstract
49. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41. View abstract
50. Atherosclerosis: the path from genomics to therapeutics. J Am Coll Cardiol. 2007 Apr 17; 49(15):1589-1599. View abstract
51. Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia. Ann Hum Genet. 2006 Nov; 70(Pt 6):705-16. View abstract
52. Genetic determinants of C-reactive protein in COPD. Eur Respir J. 2006 Dec; 28(6):1156-62. View abstract
53. Lack of association between genetic variation in 9 innate immunity genes and baseline CRP levels. Ann Hum Genet. 2006 Sep; 70(Pt 5):574-86. View abstract
54. Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels. Ann Hum Genet. 2006 Sep; 70(5):574-586. View abstract
55. A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006 Jun; 47(6):2336-40. View abstract
56. Association of common CRP gene variants with CRP levels and cardiovascular events. Ann Hum Genet. 2005 Nov; 69(Pt 6):623-38. View abstract
57. Genetics of C-Reactive Protein. CRP: Atherothrombosis and Cardiovascular Risk. P. M. Ridker and N. Rifai, eds. 2005. View abstract
58. Case report: a young boy with painful leg swelling. Curr Opin Pediatr. 2002 Dec; 14(6):731-4. View abstract
59. The Drosophila primo locus encodes two low-molecular-weight tyrosine phosphatases. Gene. 2000 Feb 08; 243(1-2):1-9. View abstract
60. Regulation of EGF receptor signaling establishes pattern across the developing Drosophila retina. Development. 1998 Dec; 125(23):4777-90. View abstract
61. Local induction of patterning and programmed cell death in the developing Drosophila retina. Development. 1998 Jun; 125(12):2327-35. View abstract