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
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
Trustworthy Augmented Intelligence in Health Care. J Med Syst. 2022 Jan 12; 46(2):12. View Trustworthy Augmented Intelligence in Health Care. Abstract
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
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
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
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
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
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
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
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
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
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
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
[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
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
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
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
Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View Chromosomal microarray testing influences medical management. Abstract
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
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
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
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
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
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
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
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
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
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
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
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
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
Brainstem lesions in neurofibromatosis type 1. Neurosurgery. 2007 Oct; 61(4):762-6; discussion 766-7. View Brainstem lesions in neurofibromatosis type 1. Abstract
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Clinical picture: Multicolour karyotyping. Lancet. 2001 Apr 21; 357(9264):1240. View Clinical picture: Multicolour karyotyping. Abstract
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
Cerebral infarction in Menkes' disease. Pediatr Neurol. 2000 Nov; 23(5):425-8. View Cerebral infarction in Menkes' disease. Abstract
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
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
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
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
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
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
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Prenat Diagn. 1998 Apr; 18(4):369-72. View Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Abstract
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Metabolic syndromes with dermatologic manifestations. Clin Rev Allergy. 1986 Feb; 4(1):101-24. View Metabolic syndromes with dermatologic manifestations. Abstract
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