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American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Medical School

Universidade Federal do Piaui

2010, Teresina, Brazil

Graduate School

University of Pittsburgh

2013, Pittsburgh, PA

Graduate School

University of Pittsburgh

2015, Pittsburgh, PA

Internship

Pediatrics

Cincinnati Children's Hospital Medical Center

2016, Cincinnati, OH

Residency

Pediatrics and Genetics Combined Program

Cincinnati Children's Hospital Medical Center

2019, Cincinnati, OH

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Undergraduate School

Northwestern University

1973, Chicago, IL

Graduate School

Northwestern University

1978, Chicago, IL

Medical School

Northwestern University, Feinberg School of Medicine

1980, Chicago, IL

Internship

Pediatrics

Children's Memorial Hospital

1981, Chicago, IL

Residency

Pediatrics

Children's Memorial Hospital

1983, Chicago, IL

Fellowship

Pediatrics (Genetics)

Massachusetts General Hospital

1986, Boston, MA

Fellowship

Clinical and Biochemical Genetics

Boston Children's Hospital

1986, Boston, MA

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

  1. Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants. Am J Med Genet A. 2025 Mar 29; e64048. View Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants. Abstract

  2. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

  3. Trustworthy Augmented Intelligence in Health Care. J Med Syst. 2022 Jan 12; 46(2):12. View Trustworthy Augmented Intelligence in Health Care. Abstract

  4. Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Genet Med. 2021 05; 23(5):813-815. View Focused Revision: ACMG practice resource: Genetic evaluation of short stature. Abstract

  5. Longitudinal assessments in continuing specialty certification and lifelong learning. Med Teach. 2018 09; 40(9):917-919. View Longitudinal assessments in continuing specialty certification and lifelong learning. Abstract

  6. Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Congenit Heart Dis. 2017 Jul; 12(4):475-483. View Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. Abstract

  7. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45. View The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Abstract

  8. The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats. Acad Med. 2016 11; 91(11):1509-1515. View The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats. Abstract

  9. Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification. Acad Med. 2016 Jan; 91(1):16-9. View Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification. Abstract

  10. Maintenance of certification 2.0--strong start, continued evolution. N Engl J Med. 2015 Jan 08; 372(2):104-6. View Maintenance of certification 2.0--strong start, continued evolution. Abstract

  11. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Copy number variation plays an important role in clinical epilepsy. Abstract

  12. Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. J Neurosurg Pediatr. 2013 Apr; 11(4):410-6. View Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. Abstract

  13. Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization. J Neurosurg Pediatr. 2013 Apr; 11(4):417-25. View Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization. Abstract

  14. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 2012 Nov 15; 160C(4):250-62. View Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Abstract

  15. [18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation. J Neurooncol. 2012 Jul; 108(3):469-75. View [18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation. Abstract

  16. The development and implementation of an in-service exam for medical genetics residency programs. Genet Med. 2012 May; 14(5):552-7. View The development and implementation of an in-service exam for medical genetics residency programs. Abstract

  17. Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. Clin Genet. 2011 Dec; 80(6):600-1. View Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. Abstract

  18. Competencies for the physician medical geneticist in the 21st century. Genet Med. 2011 Nov; 13(11):911-2. View Competencies for the physician medical geneticist in the 21st century. Abstract

  19. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View Chromosomal microarray testing influences medical management. Abstract

  20. Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2011 Jul; 155A(7):1558-62. View Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. Abstract

  21. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8. View The phenotype of recurrent 10q22q23 deletions and duplications. Abstract

  22. Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1. J Child Neurol. 2011 Feb; 26(2):228-30. View Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1. Abstract

  23. Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer. 2010 Jul 01; 54(7):890-6. View Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Abstract

  24. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. View Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Abstract

  25. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91. View Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Abstract

  26. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81. View 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Abstract

  27. Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1. J Child Neurol. 2010 Oct; 25(10):1195-202. View Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1. Abstract

  28. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009 Nov 18; 302(19):2111-8. View Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. Abstract

  29. ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009 Jun; 11(6):465-70. View ACMG practice guideline: genetic evaluation of short stature. Abstract

  30. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar; 84(3):307-15. View Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Abstract

  31. The genetics clinic: where does the time go? Genet Med. 2008 Sep; 10(9):657-8. View The genetics clinic: where does the time go? Abstract

  32. Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A. 2007 Nov 01; 143A(21):2523-33. View Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Abstract

  33. Brainstem lesions in neurofibromatosis type 1. Neurosurgery. 2007 Oct; 61(4):762-6; discussion 766-7. View Brainstem lesions in neurofibromatosis type 1. Abstract

  34. 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 Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Abstract

  35. A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. Am J Med Genet A. 2007 Jun 15; 143A(12):1282-6. View A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. Abstract

  36. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007 Sep; 44(9):594-602. View The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. Abstract

  37. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. View Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Abstract

  38. Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin Dysmorphol. 2006 Oct; 15(4):217-220. View Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Abstract

  39. Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Prenat Diagn. 2006 Sep; 26(9):842-9. View Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. Abstract

  40. Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006 Sep 01; 140A(17):1876-9. View Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Abstract

  41. 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 Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Abstract

  42. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May; 13(5):528-40. View Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Abstract

  43. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30. View Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Abstract

  44. The biology and management of laryngeal neurofibroma. Arch Otolaryngol Head Neck Surg. 2004 Dec; 130(12):1400-6. View The biology and management of laryngeal neurofibroma. Abstract

  45. Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726. Pediatr Res. 2004 Nov; 56(5):679-81. View Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726. Abstract

  46. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 01; 130A(2):204-7. View Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Abstract

  47. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A. 2004 Aug 01; 128A(4):340-51. View Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Abstract

  48. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 01; 128A(4):352-63. View Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Abstract

  49. The call from the newborn screening laboratory: frustration in the afternoon. Pediatr Clin North Am. 2004 Jun; 51(3):803-18, xii. View The call from the newborn screening laboratory: frustration in the afternoon. Abstract

  50. Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis. Curr Opin Pediatr. 2003 Dec; 15(6):594-7. View Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis. Abstract

  51. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec; 121(12):1738-43. View Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Abstract

  52. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90. View Toriello-Carey syndrome: delineation and review. Abstract

  53. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. Am J Med Genet A. 2003 Nov 15; 123A(1):100-6. View Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. Abstract

  54. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14. View MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Abstract

  55. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A. 2003 Aug 30; 121A(2):102-8. View Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Abstract

  56. Participation by clinical geneticists in genetic advocacy groups. Am J Med Genet A. 2003 May 15; 119A(1):89-92. View Participation by clinical geneticists in genetic advocacy groups. Abstract

  57. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29. View Further delineation of cardiac abnormalities in Costello syndrome. Abstract

  58. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug; 4(4):279-88. View Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Abstract

  59. Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol. 2002 Apr; 17(4):239-42. View Utility of hemodialysis in maple syrup urine disease. Abstract

  60. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2001 Jun; 24(3):417-8. View Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. Abstract

  61. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics. 2001 Jun; 107(6):E103. View Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Abstract

  62. Clinical picture: Multicolour karyotyping. Lancet. 2001 Apr 21; 357(9264):1240. View Clinical picture: Multicolour karyotyping. Abstract

  63. Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. J Lipid Res. 2001 Apr; 42(4):501-8. View Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. Abstract

  64. Cerebral infarction in Menkes' disease. Pediatr Neurol. 2000 Nov; 23(5):425-8. View Cerebral infarction in Menkes' disease. Abstract

  65. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Am J Med Genet. 2000 Oct 23; 94(5):405-8. View Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Abstract

  66. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000 May 22; 9(9):1385-91. View Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Abstract

  67. Antenatal therapy of Smith-Lemli-Opitz syndrome. Fetal Diagn Ther. 1999 May-Jun; 14(3):133-7. View Antenatal therapy of Smith-Lemli-Opitz syndrome. Abstract

  68. Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet. 1999 Feb 12; 82(4):355-8. View Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Abstract

  69. Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology. 1999 Jan; 59(1):20-2. View Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Abstract

  70. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8. View Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Abstract

  71. Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn. 1998 Apr; 18(4):369-72. View Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Abstract

  72. Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet. 1997 Oct 17; 72(2):210-5. View Skeletal anomalies and deformities in patients with deletions of 22q11. Abstract

  73. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet. 1997 Jan 31; 68(3):305-10. View Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Abstract

  74. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31; 68(3):311-4. View Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Abstract

  75. The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Subcell Biochem. 1997; 28:117-44. View The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Abstract

  76. Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. Am J Med Genet. 1996 Dec 02; 66(1):69-71. View Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. Abstract

  77. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J Lipid Res. 1996 Jun; 37(6):1169-80. View Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Abstract

  78. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Ital J Gastroenterol. 1995 Dec; 27(9):506-8. View Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Abstract

  79. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4. View Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Abstract

  80. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest. 1995 Oct; 96(4):1779-85. View Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. Abstract

  81. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995 Jul; 127(1):82-7. View Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. Abstract

  82. Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. J Lipid Res. 1995 Jan; 36(1):89-95. View Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. Abstract

  83. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994 May 01; 50(4):347-52. View Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Abstract

  84. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13; 330(2):107-13. View Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. Abstract

  85. Screening for metabolic disorders. How are we doing? Pediatr Clin North Am. 1993 Oct; 40(5):1073-85. View Screening for metabolic disorders. How are we doing? Abstract

  86. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993 May 29; 341(8857):1414. View Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Abstract

  87. Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality. Birth Defects Orig Artic Ser. 1990; 26(3):149-56. View Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality. Abstract

  88. The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. Am J Obstet Gynecol. 1988 Aug; 159(2):474-6. View The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. Abstract

  89. Folinic acid therapy in treatment of dihydropteridine reductase deficiency. J Pediatr. 1987 Jan; 110(1):61-7. View Folinic acid therapy in treatment of dihydropteridine reductase deficiency. Abstract

  90. Metabolic syndromes with dermatologic manifestations. Clin Rev Allergy. 1986 Feb; 4(1):101-24. View Metabolic syndromes with dermatologic manifestations. Abstract

  91. Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. J Pediatr. 1985 Aug; 107(2):261-3. View Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. Abstract

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Undergraduate School

McMaster University

2014, Hamilton, Ontario, Canada

Medical School

George Washington University School of Medicine and Health Sciences

2019, Washington, DC

Residency

Pediatrics

Boston Combined Residency Program (BCRP)

2023, Boston, MA

Fellowship

Medical Genetics

Harvard Medical School Genetics Training Program

2023, Boston, MA

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Undergraduate School

Cornell University

1990, Ithaca, NY

Graduate School

Rockefeller University

1996, New York, NY

Medical School

Cornell University Medical College

1998, New York, NY

Internship

Pediatrics

Columbia Presbyterian Medical Center

1999, New York, NY

Residency

Pediatrics

Columbia Presbyterian Medical Center

2000, New York, NY

Fellowship

Clinical Genetics; Molecular Genetics

Columbia Presbyterian Medical Center

2003, New York, NY

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Undergraduate School

Worcester Polytechnic Institute

2004, Worcester, MA

Medical School

University of Massachusetts Medical School

2015, Worcester, MA

Internship

Pediatrics

Harbor-UCLA Medical Center

2019, Torrance, CA

Residency

Medical Genetics

Stanford Health Care

2021, Stanford, CA

Fellowship

Medical Biochemical Genetics

Harvard Medical School Genetics Training Program

2022, Boston, MA

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Graduate School

Department of Genome Sciences

University of Washington

Seattle, WA

Medical School

University of Washington School of Medicine

Seattle, WA

Internship

Pediatrics

Boston Combined Residency Program (BCRP)

Boston, MA

Residency

Pediatrics/Medical Genetics

Boston Combined Residency Program (BCRP)

Boston, MA

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Undergraduate School

Yale University

2007, New Haven, CT

Medical School

Emory University School of Medicine

2017, Atlanta, GA

Residency

Pediatrics/Medical Genetics

Baylor College of Medicine

2021, Houston, TX

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Undergraduate School

Princeton University

Princeton, NJ

Medical School

Harvard Medical School

Boston, MA

Internship

Pediatrics

Boston Combined Residency Program (BCRP)

Boston, MA

Residency

Pediatrics

Boston Combined Residency Program (BCRP)

Boston, MA

Fellowship

HMS Genetics Training Program and Harvard Neonatal-Perinatal Medicine

Boston, MA

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

American Board of Medical Genetics and Genomics (Clinical Genetics) | Education

Medical School

University of Toronto

2008, Toronto, Ontario, Canada

Residency

University of Toronto

2013, Toronto, Ontario, Canada

Fellowship

Harvard Medical School

2016, Boston, MA

American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications

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