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Articles in Scholarly Journals [Incomplete List]

1. Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients
   American Journal of Medical Genetics Part A, vol. 146A, no. 16, pp. 2094–2102, 2008
2. Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events
   American Journal of Medical Genetics Part A, vol. 146A, no. 16, pp. 2086–2093, 2008
3. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11 mutations
   Human Mutation, vol. 29, no. 2, pp. 289–298, 2008
4. A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
   Human Mutation, vol. 29, no. 6, pp. 879–885, 2008
5. Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
   Mammalian Genome, vol. 19, no. 4, pp. 272–278, 2008
6. Functional genetic variation of human miRNAs and phenotypic consequences
   Mammalian Genome, vol. 19, no. 7-8, pp. 503–509, 2008
7. Mapping of Small RNAs in the Human ENCODE Regions
   The American Journal of Human Genetics, vol. 82, no. 4, pp. 971–981, 2008
8. Evolutionary Forces Shape the Human RFPL1,2,3 Genes toward a Role in Neocortex Development
   The American Journal of Human Genetics, vol. 83, no. 2, pp. 208–218, 2008
9. DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome
   The American Journal of Human Genetics, vol. 83, no. 3, pp. 388–400, 2008
10. Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms
    European Journal of Medical Genetics, 2008
11. Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    European Journal of Human Genetics, Article ID ejhg2008214, 2008
12. Efficient targeted transcript discovery via array-based normalization of RACE libraries
    Nature Methods, vol. 5, no. 7, Article ID nmeth.1216, 6 pages, 2008
13. Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome
    Proceedings of the National Academy of Sciences, vol. 105, no. 27, pp. 9415–9420, 2008
14. Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin
    Nucleic Acids Research, vol. 36, no. 21, pp. 6918–6925, 2008
15. Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor  -Subunit Mutations outside the Ion Channel Pore
    Molecular Pharmacology, vol. 74, no. 2, pp. 379–391, 2008
16. Pericentromeric Instability and Spontaneous Emergence of Human Neoacrocentric and Minute Chromosomes in the Alternative Pathway of Telomere Lengthening
    Cancer Research, vol. 68, no. 19, pp. 8146–8155, 2008
17. In Vitro Whole-Genome Analysis Identifies a Susceptibility Locus for HIV-1
    PLoS Biology, vol. 6, no. 2, p. e32, 2008
18. Early History of Mammals Is Elucidated with the ENCODE Multiple Species Sequencing Data
    PLoS Genetics, vol. 3, no. 1, p. e2, 2007
19. Gene Duplication: A Drive for Phenotypic Diversity and Cause of Human Disease
    Annual Review of Genomics and Human Genetics, vol. 8, no. 1, pp. 17–35, 2007
20. A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1
    Science, vol. 317, no. 5840, pp. 944–947, 2007
21. Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution
    Genome Research, vol. 17, no. 6, pp. 839–851, 2007
22. Structured RNAs in the ENCODE selected regions of the human genome
    Genome Research, vol. 17, no. 6, pp. 852–864, 2007
23. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions
    Genome Research, vol. 17, no. 6, pp. 746–759, 2007
24. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
    Genome Research, vol. 17, no. 6, pp. 760–774, 2007
25. Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
    Genome Research, vol. 17, no. 11, pp. 1690–1696, 2007
26. Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1
    The American Journal of Human Genetics, vol. 80, no. 1, pp. 105–111, 2007
27. Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1
    The American Journal of Human Genetics, vol. 81, no. 1, pp. 180–188, 2007
28. Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance
    The American Journal of Human Genetics, vol. 81, no. 2, pp. 252–263, 2007
29. Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTR1 3′ Untranslated Region: A Mechanism for Functional Single-Nucleotide Polymorphisms Related to Phenotypes
    The American Journal of Human Genetics, vol. 81, no. 2, pp. 405–413, 2007
30. The implications of alternative splicing in the ENCODE protein complement
    Proceedings of the National Academy of Sciences, vol. 104, no. 13, pp. 5495–5500, 2007
31. Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements
    Proceedings of the National Academy of Sciences, vol. 104, no. 51, pp. 20443–20448, 2007
32. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    Nature, vol. 447, no. 7146, Article ID nature05874, 17 pages, 2007
33. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
    Nature Reviews Genetics, vol. 8, no. 8, Article ID nrg2149, 7 pages, 2007
34. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
    Brain and Development, vol. 29, no. 1, pp. 47–50, 2007
35. Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation
    American Journal of Medical Genetics Part A, vol. 143A, no. 8, pp. 888–890, 2007
36. Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease
    Human Mutation, vol. 28, no. 8, pp. 790–796, 2007
37. Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome
    Human Brain Mapping, vol. 28, no. 6, pp. 533–542, 2007
38. Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis
    American Journal of Medical Genetics Part A, vol. 140A, no. 13, pp. 1440–1446, 2006
39. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation
    American Journal of Medical Genetics Part A, vol. 140A, no. 13, pp. 1375–1383, 2006
40. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
    American Journal of Medical Genetics Part A, vol. 140A, no. 13, pp. 1384–1395, 2006
41. The challenge of Down syndrome
    Trends in Molecular Medicine, vol. 12, no. 10, pp. 473–479, 2006
42. Mendelian disorders deserve more attention
    Nature Reviews Genetics, vol. 7, no. 4, Article ID nrg1826, 5 pages, 2006
43. Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes
    The American Journal of Human Genetics, vol. 79, no. 2, pp. 332–341, 2006
44. Genomewide Scan for Nonsyndromic Cleft Lip and Palate in Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q33.1-34
    The American Journal of Human Genetics, vol. 79, no. 3, pp. 580–585, 2006
45. DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects
    American Journal of Respiratory and Critical Care Medicine, vol. 174, no. 2, pp. 120–126, 2006
46. No Evidence for an Effect of COMT Val158Met Genotype on Executive Function in Patients With 22q11 Deletion Syndrome
    American Journal of Psychiatry, vol. 163, no. 3, pp. 537–539, 2006
47. BMC Bioinformatics, vol. 6, no. 1, p. 131, 2005
48. Report on the ‘Expert Workshop on the Biology of Chromosome 21: towards gene-phenotype correlations in Down syndrome’, held June 11–14, 2004, Washington D.C.
    Cytogenetic and Genome Research, vol. 108, no. 4, pp. 269–277, 2005
49. Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations
    PLoS Genetics, vol. 1, no. 4, p. e47, 2005
50. Genome-Wide Associations of Gene Expression Variation in Humans
    PLoS Genetics, vol. 1, no. 6, p. e78, 2005
51. Tandem chimerism as a means to increase protein complexity in the human genome
    Genome Research, vol. 16, no. 1, pp. 37–44, 2005
52. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
    Journal of Medical Genetics, vol. 43, no. 3, pp. 266–273, 2005
53. LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes
    Human Molecular Genetics, vol. 14, no. 15, pp. 2209–2219, 2005
54. Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
    Human Molecular Genetics, vol. 14, no. 23, pp. 3741–3749, 2005
55. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes
    Nucleic Acids Research, vol. 33, no. 6, pp. 1935–1939, 2005
56. Binding of PTEN to Specific PDZ Domains Contributes to PTEN Protein Stability and Phosphorylation by Microtubule-associated Serine/Threonine Kinases
    Journal of Biological Chemistry, vol. 280, no. 32, pp. 28936–28943, 2005
57. Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis
    Proceedings of the National Academy of Sciences, vol. 102, no. 11, pp. 4068–4073, 2005
58. Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter
    EMBO reports, vol. 6, no. 10, Article ID 7400502, 4 pages, 2005
59. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome
    Nature Neuroscience, vol. 8, no. 11, Article ID nn1572, 2 pages, 2005
60. Conserved noncoding sequences are selectively constrained and not mutation cold spots
    Nature Genetics, vol. 38, no. 2, Article ID ng1710, 4 pages, 2005
61. Opinion: Conserved non-genic sequences — an unexpected feature of mammalian genomes
    Nature Reviews Genetics, vol. 6, no. 2, Article ID nrg1527, 6 pages, 2005
62. How pathogenic is the p.D104N/endostatin polymorphic allele ofCOL18A1 in Knobloch syndrome?
    Human Mutation, vol. 25, no. 3, pp. 314–315, 2005
63. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
    Human Mutation, vol. 25, no. 6, pp. 543–549, 2005
64. Arg16 homozygosity of the β2-adrenergic receptor improves the outcome after β2-agonist tocolysis for preterm labor
    Clinical Pharmacology & Therapeutics, vol. 78, no. 6, pp. 656–663, 2005
65. LRP5 gene polymorphisms and idiopathic osteoporosis in men
    Bone, vol. 37, no. 6, pp. 770–775, 2005
66. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
    Human Genetics, vol. 117, no. 6, pp. 528–535, 2005
67. Peutz?Jeghers LKB1 mutants fail to activate GSK-3?, preventing it from inhibiting Wnt signaling
    Molecular Genetics and Genomics, vol. 273, no. 2, pp. 184–196, 2005
68. The human sugar-phosphate/phosphate exchanger family SLC37
    Pfl�gers Archiv European Journal of Physiology, vol. 447, no. 5, pp. 780–783, 2004
69. A narcolepsy susceptibility locus maps to a 5Mb region of chromosome 21q
    Annals of Neurology, vol. 56, no. 3, pp. 382–388, 2004
70. Chromosome 21 and down syndrome: from genomics to pathophysiology
    Nature Reviews Genetics, vol. 5, no. 10, Article ID nrg1448, 13 pages, 2004
71. The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development
    Genomics, vol. 84, no. 2, pp. 320–330, 2004
72. Polymorphisms in the Low-Density Lipoprotein Receptor–Related Protein 5 (LRP5) Gene Are Associated with Variation in Vertebral Bone Mass, Vertebral Bone Size, and Stature in Whites
    The American Journal of Human Genetics, vol. 74, no. 5, pp. 866–875, 2004
73. The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3
    Human Molecular Genetics, vol. 13, no. 14, pp. 1505–1514, 2004
74. The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome
    Human Molecular Genetics, vol. 14, no. 3, pp. 373–384, 2004
75. Genetic Variability of ??-Opioid Receptor in an Obstetric Population
    Anesthesiology, vol. 100, no. 4, pp. 1030–1033, 2004
76. The ENCODE (ENCyclopedia Of DNA Elements) Project
    Science, vol. 306, no. 5696, pp. 636–640, 2004
77. Detection of aneuploidies by paralogous sequence quantification
    Journal of Medical Genetics, vol. 41, no. 12, pp. 908–915, 2004
78. Comparison of Human Chromosome 21 Conserved Nongenic Sequences (CNGs) With the Mouse and Dog Genomes Shows That Their Selective Constraint Is Independent of Their Genic Environment
    Genome Research, vol. 14, no. 5, pp. 852–859, 2004
79. Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome
    Genome Research, vol. 14, no. 7, pp. 1268–1274, 2004
80. Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs)
    Science, vol. 302, no. 5647, pp. 1033–1035, 2003
81. The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion
    Cytogenetic and Genome Research, vol. 100, no. 1-4, pp. 213–223, 2003
82. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome
    Blood, vol. 102, no. 2, pp. 529–534, 2003
83. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
    Human Molecular Genetics, vol. 12, no. 16, pp. 1959–1971, 2003
84. Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
    The American Journal of Human Genetics, vol. 73, no. 1, pp. 49–62, 2003
85. Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia
    The American Journal of Human Genetics, vol. 73, no. 1, pp. 34–48, 2003
86. Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes
    Proceedings of the National Academy of Sciences, vol. 100, no. 3, pp. 1140–1145, 2003
87. Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling
    Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol. 1640, no. 1, pp. 61–68, 2003
88. Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12
    Gene, vol. 320, pp. 31–40, 2003
89. Trapping and sequence analysis of 1138 putative exons from human chromosome 18
    Molecular Psychiatry, vol. 8, no. 6, Article ID 4001288, 4 pages, 2003
90. DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg
    Human Mutation, vol. 22, no. 5, pp. 404–408, 2003
91. Knobloch syndrome: Novel mutations inCOL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
    Human Mutation, vol. 23, no. 1, pp. 77–84, 2003
92. The TPTE gene family: cellular expression, subcellular localization and alternative splicing
    Gene, vol. 323, pp. 189–199, 2003
93. Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors
    Human Genetics, vol. 111, no. 3, pp. 284–289, 2002
94. Human Genetics, vol. 112, no. 1, pp. 103–103, 2002
95. A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral Defects
    Genomics, vol. 79, no. 4, pp. 493–498, 2002
96. Nineteen Additional Unpredicted Transcripts from Human Chromosome 21
    Genomics, vol. 79, no. 6, pp. 824–832, 2002
97. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
    Journal of Molecular Medicine, vol. 80, no. 2, pp. 124–131, 2002
98. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
    Human Mutation, vol. 19, no. 2, pp. 183–183, 2002
99. Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    Human Mutation, vol. 20, no. 5, pp. 403–403, 2002
100. Language skills in children with velocardiofacial syndrome (deletion 22q11.2)
     The Journal of Pediatrics, vol. 140, no. 6, pp. 753–758, 2002
101. Human chromosome 21 gene expression atlas in the mouse
     Nature, vol. 420, no. 6915, Article ID nature01178, 4 pages, 2002
102. Numerous potentially functional but non-genic conserved sequences on human chromosome 21
     Nature, vol. 420, no. 6915, Article ID nature01251, 4 pages, 2002
103. Initial sequencing and comparative analysis of the mouse genome
     Nature, vol. 420, no. 6915, Article ID nature01262, 42 pages, 2002
104. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
     Proceedings of the National Academy of Sciences, vol. 99, no. 16, pp. 10282–10286, 2002
105. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
     Human Molecular Genetics, vol. 11, no. 23, pp. 2829–2836, 2002
106. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis
     Blood, vol. 99, no. 4, pp. 1364–1372, 2002
107. Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2
     Cytogenetic and Genome Research, vol. 97, no. 3-4, pp. 171–178, 2002
108. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 Gright-arrowT
     Blood, vol. 97, no. 6, pp. 1879–1881, 2001
109. Differential gene expression studies to explore the molecular pathophysiology of Down syndrome
     Brain Research Reviews, vol. 36, no. 2-3, pp. 265–274, 2001
110. Chromosome 21: from sequence to applications
     Current Opinion in Genetics & Development, vol. 11, no. 3, pp. 241–246, 2001
111. Nature Cell Biology, vol. 3, no. 10, pp. 927–932, 2001
112. Nature Genetics, vol. 27, no. 1, pp. 59–63, 2001
113. Nature Genetics, vol. 27, no. 3, pp. 230–232, 2001
114. Parental Origin of the Deletion 22q11.2 and Brain Development in Velocardiofacial Syndrome: A Preliminary Study
     Archives of General Psychiatry, vol. 58, no. 1, pp. 64–68, 2001
115. Using linked markers to infer the age of a mutation
     Human Mutation, vol. 18, no. 2, pp. 87–100, 2001
116. APECED mutations in the autoimmune regulator (AIRE) gene
     Human Mutation, vol. 18, no. 3, pp. 205–211, 2001
117. Axonemal Beta Heavy Chain Dynein DNAH9: cDNA Sequence, Genomic Structure, and Investigation of Its Role in Primary Ciliary Dyskinesia
     Genomics, vol. 72, no. 1, pp. 21–33, 2001
118. Corrigenda
     Genomics, vol. 77, no. 1-2, pp. 114–115, 2001
119. From PREDs and Open Reading Frames to cDNA Isolation: Revisiting the Human Chromosome 21 Transcription Map
     Genomics, vol. 78, no. 1-2, pp. 46–54, 2001
120. Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains
     Human Genetics, vol. 108, no. 2, pp. 140–147, 2001
121. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes
     Human Genetics, vol. 108, no. 3, pp. 237–240, 2001
122. Nomenclature for the description of human sequence variations
     Human Genetics, vol. 109, no. 1, pp. 121–124, 2001
123. Frequency of replication/transcription errors in (A)/(T) runs of human genes
     Human Genetics, vol. 109, no. 1, pp. 40–47, 2001
124. The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family
     Human Genetics, vol. 109, no. 6, pp. 569–575, 2001
125. Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes
     European Child & Adolescent Psychiatry, vol. 9, no. 2, pp. 109–114, 2000
126. Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21
     Human Genetics, vol. 107, no. 2, pp. 127–131, 2000
127. Isolation and Initial Characterization of a Novel Zinc Finger Gene, DNMT3L, on 21q22.3, Related to the Cytosine-5- Methyltransferase 3 Gene Family
     Genomics, vol. 65, no. 3, pp. 293–298, 2000
128. C21orf5, a Novel Human Chromosome 21 Gene, Has a Caenorhabditis elegans Ortholog (pad-1) Required for Embryonic Patterning
     Genomics, vol. 68, no. 1, pp. 30–40, 2000
129. Refined Localization of Autosomal Recessive Nonsyndromic Deafness DFNB10 Locus Using 34 Novel Microsatellite Markers, Genomic Structure, and Exclusion of Six Known Genes in the Region
     Genomics, vol. 68, no. 1, pp. 22–29, 2000
130. Isolation and Characterization of a Human Chromosome 21q22.3 Gene (WDR4) and Its Mouse Homologue That Code for a WD-Repeat Protein
     Genomics, vol. 68, no. 1, pp. 71–79, 2000
131. Cloning and Characterization of a Putative Human Glycerol 3-Phosphate Permease Gene (SLC37A1 or G3PP) on 21q22.3: Mutation Analysis in Two Candidate Phenotypes, DFNB10 and a Glycerol Kinase Deficiency
     Genomics, vol. 70, no. 2, pp. 190–200, 2000
132. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
     Human Mutation, vol. 15, no. 1, pp. 7–12, 2000
133. RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse
     European Journal of Immunology, vol. 30, no. 7, pp. 1884–1893, 2000
134. Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes
     Molecular Psychiatry, vol. 5, no. 6, pp. 650–653, 2000
135. Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity
     European Journal of Human Genetics, vol. 8, no. 2, Article ID 5200429, 9 pages, 2000
136. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
     European Journal of Human Genetics, vol. 8, no. 5, Article ID 5200471, 8 pages, 2000
137. Nature Genetics, vol. 25, no. 1, pp. 11–11, 2000
138. Nature, vol. 405, no. 6784, pp. 311–319, 2000
139. Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome
     Human Molecular Genetics, vol. 9, no. 12, pp. 1853–1864, 2000
140. The Mouse Brain Transcriptome by SAGE: Differences in Gene Expression between P30 Brains of the Partial Trisomy 16 Mouse Model of Down Syndrome (Ts65Dn) and Normals
     Genome Research, vol. 10, no. 12, pp. 2006–2021, 2000
141. Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
     Genome Research, vol. 10, no. 9, pp. 1319–1332, 2000
142. Multicenter Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5q, 6q, 10p, and 13q: Schizophrenia Linkage Collaborative Group III
     The American Journal of Human Genetics, vol. 67, no. 3, pp. 652–663, 2000
143. The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein
     Journal of Biological Chemistry, vol. 275, no. 22, pp. 16802–16809, 2000
144. The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations
     The American Journal of Human Genetics, vol. 65, no. 3, pp. 645–655, 1999
145. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1
     Human Molecular Genetics, vol. 8, no. 9, pp. 1791–1798, 1999
146. Transgenic Research, vol. 8, no. 2, pp. 147–150, 1999
147. The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster
     European Journal of Human Genetics, vol. 7, no. 8, Article ID 5200395, 5 pages, 1999
148. Mutation analyses of North American APS-1 patients
     Human Mutation, vol. 13, no. 1, pp. 69–74, 1999
149. No evidence for linkage between schizophrenia and markers at