Publications powered by Harvard Catalyst Profiles

1. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. View abstract
2. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 10; 28(10):1422-1431. View abstract
3. Recent developments in fetal alcohol spectrum disorder. Curr Opin Endocrinol Diabetes Obes. 2020 02; 27(1):77-81. View abstract
4. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68. View abstract
5. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. View abstract
6. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. J Genet Couns. 2019 12; 28(6):1107-1118. View abstract
7. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. . 2019 08; 179(8):1565-1569. View abstract
8. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. View abstract
9. Genetics and Metabolism. Pediatr Ann. 2018 05 01; 47(5):e185-e186. View abstract
10. Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. J Pediatr. 2018 05; 196:270-274.e1. View abstract
11. Prenatal and Postnatal Genetic Testing: Why, How, and When? Pediatr Ann. 2017 Nov 01; 46(11):e423-e427. View abstract
12. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017 04; 136(4):463-479. View abstract
13. Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome. J Pediatr. 2017 02; 181:261-266. View abstract
14. Pulmonary Vasculopathy Associated with FIGF Gene Mutation. Am J Pathol. 2017 Jan; 187(1):25-32. View abstract
15. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. . 2016 Feb; 170A(2):435-440. View abstract
16. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000562. View abstract
17. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. . 2015 Aug; 167A(8):1747-57. View abstract
18. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. Am J Hum Genet. 2015 May 07; 96(5):709-19. View abstract
19. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. . 2015 Jun; 167(6):1400-5. View abstract
20. 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
21. Progressive Postnatal Pansynostosis. Cleft Palate Craniofac J. 2015 11; 52(6):751-7. View abstract
22. An assessment of clinician and researcher needs for support in the era of genomic medicine. Per Med. 2014 Aug; 11(6):569-579. View abstract
23. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
24. NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. J Perinatol. 2014 May; 34(5):410-1. View abstract
25. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology. 2013 Oct 15; 81(16):1378-86. View abstract
26. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. . 2013 Oct; 161A(10):2519-27. View abstract
27. Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. Case Rep Pediatr. 2013; 2013:764659. View abstract
28. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012 Dec; 44(12):1360-4. View abstract
29. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr. 2013 Jan; 162(1):202-4.e1. View abstract
30. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan 01; 22(1):1-17. View abstract
31. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec; 33(12):1626-9. View abstract
32. Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12. . 2011 Dec; 155A(12):3122-4. View abstract
33. Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications. J Allergy Clin Immunol. 2012 Jan; 129(1):251-4.e1-6. View abstract
34. Audiologic findings in Saethre-Chotzen syndrome. Plast Reconstr Surg. 2011 May; 127(5):2014-2020. View abstract
35. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet. 2012 Mar; 81(3):257-64. View abstract
36. Magnetic resonance imaging for detection of brain abnormalities in fetuses with cleft lip and/or cleft palate. Cleft Palate Craniofac J. 2011 Sep; 48(5):619-22. View abstract
37. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. . 2010 Jun 05; 153B(4):937-47. View abstract
38. FOXE3 plays a significant role in autosomal recessive microphthalmia. . 2010 Mar; 152A(3):582-90. View abstract
39. Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female. Cytogenet Genome Res. 2009; 126(3):305-12. View abstract
40. Cleft palate in Pfeiffer syndrome. J Craniofac Surg. 2009 Sep; 20(5):1375-7. View abstract
41. A tribute to Lewis B. Holmes: mentor and scholar. Birth Defects Res A Clin Mol Teratol. 2009 Jan; 85(1):1-5. View abstract
42. Mitral valve prolapse in Marfan syndrome: an old topic revisited. Echocardiography. 2009 Apr; 26(4):357-64. View abstract
43. The frequency of palatal anomalies in Saethre-Chotzen syndrome. Cleft Palate Craniofac J. 2009 May; 46(3):280-4. View abstract
44. 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
45. Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3). Cytogenet Genome Res. 2007; 119(1-2):15-20. View abstract
46. Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview. Am J Obstet Gynecol. 2007 Jul; 197(1):12-25. View abstract
47. Bupropion in pregnancy and the prevalence of congenital malformations. Pharmacoepidemiol Drug Saf. 2007 May; 16(5):474-84. View abstract
48. Knowledge of and attitudes about Alzheimer disease genetics: report of a pilot survey and two focus groups. Community Genet. 2007; 10(2):97-102. View abstract
49. Patients with Ehlers Danlos syndrome and CRPS: a possible association? Pain. 2006 Jul; 123(1-2):204-9. View abstract
50. A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 2005 Oct; 33(4):355-62. View abstract
51. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr; 76(4):609-22. View abstract
52. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive. N Engl J Med. 2004 Nov 25; 351(22):2319-26. View abstract
53. Recognition of facial features of fetal alcohol syndrome in the newborn. Am J Med Genet C Semin Med Genet. 2004 May 15; 127C(1):21-7. View abstract
54. Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. J Inherit Metab Dis. 2004; 27(5):679-84. View abstract
55. Biomarkers of alcohol use in pregnancy. Alcohol Res Health. 2004-2005; 28(1):38-43. View abstract
56. Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome. J Pediatr. 2002 Dec; 141(6):780-5. View abstract
57. Maternal antiepileptic drug use and effects on fetal development. Curr Opin Pediatr. 2001 Dec; 13(6):566-71. View abstract
58. Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. Am J Med Genet. 2001 Jun 15; 101(2):174-7. View abstract
59. Malformations reported in chorionic villus sampling exposed children: a review and analytic synthesis of the literature. Genet Med. 1999 Nov-Dec; 1(7):315-22. View abstract
60. Under-recognition of prenatal alcohol effects in infants of known alcohol abusing women. J Pediatr. 1999 Oct; 135(4):430-6. View abstract
61. Reassessment of patients with the diagnosis of fetal alcohol syndrome. Pediatrics. 1999 Jun; 103(6 Pt 1):1313-5. View abstract
62. Limb deficiencies identified by malformations surveillance programs. Am J Med Genet. 1998 Dec 28; 80(5):541-2. View abstract
63. Anterior laryngeal webs and 22q11 deletions. Am J Med Genet. 1998 Sep 01; 79(2):152. View abstract
64. The prenatal detection of significant alcohol exposure with maternal blood markers. J Pediatr. 1998 Sep; 133(3):346-52. View abstract
65. Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings. Clin Pediatr (Phila). 1995 Apr; 34(4):190-7. View abstract
66. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet. 1995 Jan 30; 55(3):276-8. View abstract
67. A case of a closed partial cloacal septation defect with a patent urachus. Teratology. 1993 Aug; 48(2):97-103. View abstract
68. A case of agnathia, situs inversus, and a normal central nervous system. Teratology. 1992 Sep; 46(3):213-6. View abstract
69. Pancreatitis in Kawasaki disease. Am J Dis Child. 1987 Mar; 141(3):306-8. View abstract