Dorothy Katherine Grange, M.D.

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Professor of Pediatrics, Division of Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093


  • BA, Cum Laude, Mount Holyoke College1980
  • MD, University of Florida College of Medicine1982


  • Pathology Intern, University of Florida1981 - 1982
  • Pediatric Intern and Resident, University of Wisconsin1982 - 1985
  • Pathology Resident, University of Wisconsin1985 - 1986
  • Medical Genetics Fellowship Program, National Institutes of Health1986 - 1989

Licensure and Board Certification

  • 1981 - 1986WI
  • 1982 - PresNational Board of Medical Examiners
  • 1986 - 1989MD
  • 1987 - PresAmerican Academy of Pediatrics
  • 1989 - 2018MO
  • 1990 - PresClinical Genetics, American Board of Medical Genetics
  • 2002 - 2018IL
  • 2009 - PresMedical Biochemical Genetics, American Board of Medical Genetics

Honors and Awards

  • Dean Mitchell Baker Medical Student Award for Pediatric Cardiology1981
  • Outstanding Teacher Award - Subspecialty, Department of Pediatrics, Washington University School of Medicine2008 - 2009
  • Distinguished Clinician Award, Washington University School of Medicine2015
  • Shining Star Award from the Down Syndrome Association of Greater St Louis2016

Recent Publications view all (137)

  1. Behavioral and cognitive functioning in individuals with Cantú syndrome Am J Med Genet A. 2021. doi:10.1002/ajmg.a.62348  PMID:34056838  
  2. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Genet Med. 2021. doi:10.1038/s41436-021-01152-7  PMID:33833410  
  3. Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. CEN Case Rep.. 2021. doi:10.1007/s13730-021-00572-3  PMID:33502714  
  4. Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome JCI Insight. 2020;5(23):e141443. doi:10.1172/jci.insight.141443  PMID:33170808  
  5. Cantú Syndrome GeneReviews. 2020. PMID:25275207 
  6. Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report JIMD Reports. 2020. doi:10.1002/jmd2.12165  
  7. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Am J Med Genet A. 2020;107(3):499-513. doi:10.1016/j.ajhg.2020.06.018  PMID:32721402 
  8. Siblings with a novel MED12 variant and Odho syndrome with immune defects Clin Genet. 2020;98(3):308-310. doi:10.1111/cge.13806  PMID:32721402 
  9. Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up Mol Genet Metab. 2020;130(4):239-246. doi:10.1016/j.ymgme.2020.06.006  PMID:32593547 
  10. Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects Br J Clin Pharmacol. 2020;86(10):2063-2069. doi:10.1111/bcp.14301  PMID:32250462 
  11. Three-dimensional facial morphology in Cantu syndrome Am J Med Genet A. 2020;182(5):1041-1052. PMID:32100467 
  12. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome Am J Med Genet A. 2020;182(5):1053-1065. doi:10.1002/ajmg.a.61518  PMID:32083401 
  13. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature Eur J Hum Genet. 2020;28(6):770-782. doi:10.1038/s41431-020-0571-6  PMID:32005960 
  14. Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants Int J Neonatal Screen. 2020;6(1):4. doi:10.3390/ijns6010004  PMID:33073003 
  15. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations Am J Med Genet A. 2019;106(1):121-128. doi:10.1016/j.ajhg.2019.12.004  PMID:31883643 
  16. Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry Am J Med Genet C Semin Med Genet. 2019;181(4):658-681. doi:10.1002/ajmg.c.31753  PMID:31828977 
  17. Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants Pediatr Dev Path. 2019;23(3):235-239. doi:10.1177/1093526619881541  PMID:316355528 
  18. Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience. J Pediatr. 2019;S0022-3476(19):30961-30968. doi:10.1016/j.jpeds.2019.07.053  PMID:31477379 
  19. White and gray matter brain development in children and young adults with phenylketonuria. Neuroimage Clin. 2019;23:101916. doi:10.1016/j.nicl.2019.101916  
  20. Mutation update for the SATB2 gene Hum Mutat. 2019;40(8):1013-1029. doi:10.1002/humu.23771  PMID:31021519 
  21. Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. Am J Med Genet A. 2019;179(8):1585-1590. doi:10.1002/ajmg.a.61200  PMID:31175705 
  22. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype. Hum Genet. 2019. doi:10.1007/s00439-019-02011-x  PMID:30963242  
  23. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet.. 2019. doi:10.1038/s41431-019-0366-9  PMID:30778173 
  24. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019. doi:10.1038/s41436-019-0454-9  PMID:30739909  
  25. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. . 2019;104(2):213-228. doi:10.1016/j.ajhg.2018.12.010  PMID:30639323 
  26. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet.. 2018;103(6):968-975. doi:10.1016/j.ajhg.2018.10.010  PMID:30414627 
  27. Dichotomous roles of TBX3 in the establishment of atrioventricular conduction pathways in the human heart. Heart Rhythm Case Rep.. 2018;5(2):109-111. doi:10.1016/j.hrcr.2018.11.005  PMID:30820409  
  28. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab. 2018. doi:org/10.1016/j.ymgme.2018.07.014  
  29. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature Eur J Hum Genet. 2018. doi:10.1038/s41431-018-0187-2  PMID:29904177 
  30. Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial Mol Genet Metab. 2018;124(1):20-26. doi:10.1016/j.ymgme.2018.03.003  PMID:29628378 
  31. Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria Dev Neuropsychol. 2018;43(3):207-218. doi:10.1080/87565641.2018.1438439  PMID:29432026 
  32. Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms J Biol Chem. 2018;293(6):2041-2052. doi:10.1074/jbc.RA117.000351  PMID:29275331 
  33. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Am J Hum Genet. 2017;101(5):768-788. doi:10.1016/j.ajhg.2017.10.003  PMID:29100089 
  34. Automatic recognition of the XLHED phenotype from facial images. Am J Med Genet A. 2017;173(9):2408-2414. doi:10.1002/ajmg.a.38343  PMID:28691769 
  35. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017;9(1):73. doi: doi: 10.1186/s13073-017-0463-8  PMID:28807008  
  36. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum Mutat. 2017;38(11):1477-1484. doi:10.1002/humu.23297  PMID:28726266 
  37. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. J Pediatr. 2017;pii: S0022-3476(17):30898-3. doi:10.1016/j.jpeds.2017.06.048  PMID:28728811 
  38. Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria. Mol Genet Metab Rep. 2017;12:8-13. doi:10.1016/j.ymgmr.2017.01.013  PMID:28271047 
  39. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis Sci Rep. 2017;7:41803. doi:10.1038/srep41803.  PMID:28205584  
  40. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017;38(5):600-608. doi:10.1002/humu.23183  PMID:28106320 
  41. Clinical utility gene card for: Cantú syndrome. Eur J Hum Genet. 2017;25(4). doi:10.1038/ejhg.2016.185  PMID:28051078 
  42. Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. JIMD Rep. 2017;33:41-47. PMCID:PMC5413446  PMID:27450369 
  43. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet. 2016;100(1):21-30. doi:10.1016/j.ajhg.2016.11.008  PMID:27939641 
  44. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2016. PMID:27550844 
  45. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations Am J Med Genet. 2016. doi:10.1002/ajmg.a.37849  PMID:27427475 
  46. Neurologic and neuroimaging manifestations of Cantú syndrome: A case series Neurology. 2016. doi:10.1212/WNL.0000000000002861  PMID:27316244  
  47. Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum Clin Genet. 2016. doi:10.1111/cge.12819  PMID:27307077 
  48. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016;98(6):1256-65. doi:10.1016/j.ajhg.2016.04.007  PMID:27236920 
  49. KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome. Proc Natl Acad Sci U S A. 2016. doi:10.1073/pnas.1606465113  PMID:27247394 
  50. Clinical and radiographic delineation of bent bone dysplasia-FGFR2 type or bent bone dysplasia with distinctive clavicles and angel-shaped phalanges. Am J Med Genet A. 2016. doi:10.1002/ajmg.a.37772  PMID:27240702 
  51. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016;98(5):909-18. doi:10.1016/j.ajhg.2016.03.014  PMID:27132593 
  52. Relationship between age and white matter integrity in children with phenylketonuria Mol Genet Metab Rep. 2016;7:45-9. doi:10.1016/j.ymgmr.2016.03.003  PMID:27114916 
  53. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. Am J Med Genet A. 2016;170(3):583-93. doi:10.1002/ajmg.a.37445  PMID:26601658 
  54. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet. 2016;172(1):44-51. doi:10.1002/ajmg.c.31472  PMID:26858134 
  55. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications. Am J Med Genet A. 2015;167(12):2893-901. doi:10.1002/ajmg.a.37273  PMID:26420300 
  56. Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome. Heart Rhythm. 2015. doi:10.1016/j.hrthm.2015.06.042  PMID:26142302 
  57. Fabry disease in infancy and early childhood: a systematic literature review Genet Med. 2015;17(5):323-30. PMID:25232851 
  58. Brainstem disconnection: two additional patients and expansion of the phenotype. Neuropediatrics. 2015;46(2):139-44. doi:10.1055/s-0034-1544127  PMID:25671339 
  59. Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria. Mol Genet Metab. 2015;114(1):19-24. doi:10.1016/j.ymgme.2014.11.007  PMCID:PMC4277899  PMID:25481106 
  60. Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21. J Clin Sleep Med. 2014;10(12):1309-15. doi:10.5664/jcsm.4286  PMCID:PMC4237524  PMID:25325597 
  61. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2014;2(5):422-9. doi:10.1002/mgg3.84  PMCID:PMC4190877  PMID:25333067 
  62. Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders. Pediatr Neurol. 2014;51(3):448-52. doi:10.1016/j.pediatrneurol.2014.04.006  PMID:25160553 
  63. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Hum Mol Genet. 2014. doi:10.1093/hmg/ddu224  PMID:24833718 
  64. Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. Am J Med Genet A. 2014;164(5):1118-26. doi:10.1002/ajmg.a.36401  PMID:24458548 
  65. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. J Med Genet. 2014. doi:10.1136/jmedgenet-2013-102249  PMID:24744436 
  66. Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. Clin Genet. 2014. doi:10.1111/cge.12407  PMID:24738973 
  67. Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet. 2014. doi:10.1016/S0140-6736(13)61841-3  PMID:24743000 
  68. Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat. 2014. doi:10.1002/humu.22555  PMID:24700710 
  69. Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Mol Genet Metab. 2014;111(4):445-51. doi:10.1016/j.ymgme.2014.01.012  PMID:24568837 
  70. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Mol Genet Metab. 2014. doi:10.1016/j.ymgme.2014.02.016  PMID:24667082 
  71. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014. doi:10.1007/s00439-014-1436-2  PMID:24615390 
  72. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014. doi:10.1016/j.ymgme.2014.02.013  PMID:24667081 
  73. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014;2(2):115-23. doi:10.1002/mgg3.48  PMCID:PMC3960053  PMID:24689074 
  74. Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013;161A(12):2953-63. doi:10.1002/ajmg.a.35886  PMID:24123848 
  75. White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab. 2013;110(3):213-7. doi:10.1016/j.ymgme.2013.07.010  PMCID:PMC3832288  PMID:23928118 
  76. Index of Suspicion in the Nursery. Case 1: Neural Tube Defect in Infant of Epileptic Mother Neoreviews. 2013;14(8):e412-e415. 
  77. White matter integrity and executive abilities in individuals with phenylketonuria. Mol Genet Metab. 2013;109(2):125-31. doi:10.1016/j.ymgme.2013.03.020  PMCID:PMC3678378  PMID:23608077 
  78. Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. Dev Neuropsychol. 2013;38(3):139-52. doi:10.1080/87565641.2012.718816  PMID:23573793 
  79. KATP channels and cardiovascular disease: suddenly a syndrome. Circ Res. 2013;112(7):1059-72. doi:10.1161/CIRCRESAHA.112.300514  PMID:23538276 
  80. Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013;92(1):150-6. doi:10.1016/j.ajhg.2012.11.014  PMCID:PMC3542461  PMID:23261301 
  81. Processing speed and executive abilities in children with phenylketonuria. Neuropsychology. 2012;26(6):735-43. doi:10.1037/a0029419  PMCID:PMC3526340  PMID:22866986 
  82. Mild fumarase deficiency and a trial of low protein diet. Mol Genet Metab. 2012;107(1-2):241-2. doi:10.1016/j.ymgme.2012.04.010  PMID:22595425 
  83. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012;90(6):1094-101. doi:10.1016/j.ajhg.2012.04.014  PMCID:PMC3370286  PMID:22608503 
  84. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012;33(1):165-79. doi:10.1002/humu.21614  PMID:21948486 
  85. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. Eur J Med Genet. 2012;55(8-9):485-9. doi:10.1016/j.ejmg.2012.04.003  PMID:22579565 
  86. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011;48(12):840-50. doi:10.1136/jmedgenet-2011-100125  PMID:21984752 
  87. Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned. J Community Genet. 2011;2(4):191-200. doi:10.1007/s12687-011-0055-z  PMCID:PMC3215786  PMID:22109872 
  88. Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay. Am J Med Genet A. 2011;155A(10):2589-92. doi:10.1002/ajmg.a.34185  PMID:21910221 
  89. Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Mol Genet Metab. 2011;103(4):315-22. doi:10.1016/j.ymgme.2011.03.020  PMID:21646032 
  90. Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. J Pediatr. 2011;158(3):410-5. doi:10.1016/j.jpeds.2010.08.016  PMID:20884009 
  91. Executive strategic processing during verbal fluency performance in children with phenylketonuria. Child Neuropsychol. 2011;17(2):105-17. doi:10.1080/09297049.2010.525502  PMCID:PMC3058256  PMID:21140312 
  92. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010;330(6002):336. doi:10.1126/science.1192632  PMID:20847235 
  93. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A(10):2437-43. doi:10.1002/ajmg.a.33657  PMCID:PMC3573757  PMID:20734336 
  94. Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. J Mol Diagn. 2010;12(5):576-88. doi:10.2353/jmoldx.2010.100005  PMCID:PMC2928421  PMID:20616360 
  95. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010;47(3):155-61. doi:10.1136/jmg.2009.070573  PMID:19833603 
  96. Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women. J Am Coll Cardiol. 2010;55(4):408-10. doi:10.1016/j.jacc.2009.11.019  PMID:20117447 
  97. TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. Mol Syndromol. 2010;1(5):211-222. doi:10.1159/000328203  PMCID:PMC3214944  PMID:22125506 
  98. Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol Genet Metab. 2010;99 Suppl 1:S41-6. doi:10.1016/j.ymgme.2009.09.016  PMID:20123469 
  99. Pilocytic astrocytoma in a child with Noonan syndrome. Pediatr Blood Cancer. 2009;53(6):1147-9. doi:10.1002/pbc.22193  PMID:19621452 
  100. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr. 2009;154(5):700-7. doi:10.1016/j.jpeds.2008.11.040  PMID:19261295 
  101. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46(5):308-14. doi:10.1136/jmg.2008.063149  PMID:19188198 
  102. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol. 2009;129(3):553-63. doi:10.1038/jid.2008.271  PMCID:PMC2900916  PMID:18800149 
  103. Response monitoring in children with phenylketonuria. Neuropsychology. 2009;23(1):130-4. doi:10.1037/a0013488  PMID:19210041 
  104. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466-71. doi:10.1038/ng.279  PMCID:PMC2680128  PMID:19029900 
  105. Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. Am J Med Genet A. 2008;146A(20):2589-97. doi:10.1002/ajmg.a.32503  PMID:18798318 
  106. Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation. Clin Orthop Relat Res. 2008;466(6):1503-9. doi:10.1007/s11999-008-0196-5  PMCID:PMC2384041  PMID:18322662 
  107. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007;72(5):411-9. doi:10.1111/j.1399-0004.2007.00896.x  PMID:17916097 
  108. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis. 2007;30(5):700-7. doi:10.1007/s10545-007-0605-z  PMID:17846916 
  109. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat. 2007;28(9):882-9. doi:10.1002/humu.20536  PMID:17469202 
  110. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am J Med Genet A. 2006;140(15):1673-80. doi:10.1002/ajmg.a.31348  PMID:16835932 
  111. New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am J Med Genet A. 2006;140(12):1257-63. doi:10.1002/ajmg.a.31265  PMID:16691589 
  112. Inhibitory control in children with phenylketonuria. Dev Neuropsychol. 2006;30(3):845-64. doi:10.1207/s15326942dn3003_5  PMID:17083296 
  113. Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease. Am J Med Genet A. 2005;139A(2):151-5. doi:10.1002/ajmg.a.31001  PMID:16278898 
  114. Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype. Am J Med Genet A. 2005;137A(3):308-12. doi:10.1002/ajmg.a.30877  PMID:16092120 
  115. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet. 2005;14(15):2181-8. doi:10.1093/hmg/ddi222  PMID:15994174 
  116. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. J Perinatol. 2005;25(7):491-4. doi:10.1038/  PMID:15908988 
  117. LIT1 and H19 methylation defects in isolated hemihyperplasia. Am J Med Genet A. 2005;134A(2):129-31. doi:10.1002/ajmg.a.30578  PMID:15651076 
  118. Molecular and clinical analyses of Greig cephalo