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51. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

52. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

53. VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

54. An international cohort study of autosomal dominant tubulointerstitial kidney disease due to RENmutations identifies distinct clinical subtypes

55. Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation inGATA6

57. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

59. Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

60. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

62. Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6.

63. Heterozygous loss-of-function variants of MEIS2cause a triad of palatal defects, congenital heart defects, and intellectual disability

67. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain

68. NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

69. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

70. A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24

71. 16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

73. 06-P038 Great vessel development requires dizygous expression of Chd7 and Tbx1 in pharyngeal ectoderm

76. Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: Systematic review meta-analysis of diagnostic and false-positive yields

77. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

81. Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity

82. Chromosome 17q12 microdeletions but not intragenic HNF1Bmutations link developmental kidney disease and psychiatric disorder

84. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

85. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

90. GATA6 haploinsufficiency causes pancreatic agenesis in humans.

92. Update on Detection of Submicroscopic Chromosomal Imbalances in Patients With Learning Disability and Dysmorphic Features by Array-based Comparative Genomic Hybridization (Array-CGH) at 1 Mb Resolution.

93. Learning difficulties in three brothers due to underdiagnosed maternal phenylketonuria.

94. Detection of submicroscopic chromosomal deletions and duplications of microarray-CGH.

95. Identification of hepatocyte nuclear factor 1β-associated disease

96. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

97. GATA6 haploinsufficiency causes pancreatic agenesis in humans.

98. Chromosome engineering in ES cells.

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