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1. Mutations causing Lopes-Maciel-Rodan Syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 Jan 11. View abstract
2. Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View abstract
3. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View abstract
4. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089. View abstract
5. Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 08; 21(8):1827-1831. View abstract
6. Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. Hum Mol Genet. 2018 11 01; 27(21):3710-3719. View abstract
7. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol. 2018 09; 38(9):1125-1134. View abstract
8. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View abstract
9. HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion. Pediatrics. 2018 04; 141(Suppl 5):S434-S438. View abstract
10. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. . 2018 04; 176(4):925-935. View abstract
11. Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. J Pediatr. 2018 05; 196:270-274.e1. View abstract
12. Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2017 Dec; 27(10):850-863. View abstract
13. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet. 2017 Mar - Jun; 31(1-2):30-36. View abstract
14. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. . 2017 Jul; 173(7):1988-1991. View abstract
15. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833. View abstract
16. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827. View abstract
17. BRAT1 mutations present with a spectrum of clinical severity. . 2016 09; 170(9):2265-73. View abstract
18. Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2016 09; 26(7):617-24. View abstract
19. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 07; 135(7):699-705. View abstract
20. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. . 2016 May; 170A(5):1165-73. View abstract
21. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View abstract
22. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62. View abstract
23. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. View abstract
24. 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
25. EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome. Int J Dev Neurosci. 2014 Nov; 38:155-60. View abstract
26. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90. View abstract
27. Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet. 2013 Jul 02; 14:68. View abstract
28. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 06; 367(23):2226-32. View abstract
29. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35. View abstract
30. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View abstract
31. Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmental disorders. Dev Neurobiol. 2012 Jun; 72(6):891-905. View abstract
32. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View abstract
33. 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
34. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010 Dec; 126(6):e1594-8. View abstract
35. Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile x syndrome and autism spectrum disorder. Front Synaptic Neurosci. 2010; 2:26. View abstract
36. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. . 2010 Jun 05; 153B(4):937-47. View abstract
37. Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. J Child Neurol. 2010 Oct; 25(10):1275-7. View abstract
38. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View abstract
39. Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II. Synapse. 2009 Aug; 63(8):625-35. View abstract
40. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90. View abstract
41. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. View abstract
42. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet. 2008 May; 16(5):614-8. View abstract
43. Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res. 2007 Nov 14; 1180:1-6. View abstract
44. An altered neonatal behavioral phenotype in Mecp2 mutant mice. Neuroreport. 2006 Apr 03; 17(5):541-4. View abstract
45. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):569-71. View abstract
46. Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia? Harv Rev Psychiatry. 2005 Jul-Aug; 13(4):197-205. View abstract
47. Do maternal folate and homocysteine levels play a role in neurodevelopmental processes which may relate to schizophrenia genesis. Harvard Review of Psychiatry. 2005; 13(4):197-205. View abstract
48. Homocystinuria. In: Genereviews at Genetests. 2003. View abstract
49. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52. View abstract
50. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29. View abstract
51. Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay. Am J Med Genet. 2002 Jul 15; 110(4):393-6. View abstract
52. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628. View abstract
53. Do curried foods produce micronuclei in buccal epithelial cells? Mutat Res. 1986 Aug-Sep; 171(2-3):185-8. View abstract