PubRank

David Chitayat

Author PubWeight™ 176.17‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008 15.51
2 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet 2006 5.26
3 Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet 2006 3.72
4 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002 3.09
5 Human chromosome 7: DNA sequence and biology. Science 2003 3.02
6 Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007 2.74
7 Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 2002 2.33
8 Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet 2003 2.10
9 PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat 2013 2.04
10 Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008 2.00
11 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet 2012 1.90
12 Safety of codeine during breastfeeding: fatal morphine poisoning in the breastfed neonate of a mother prescribed codeine. Can Fam Physician 2007 1.83
13 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet 2012 1.82
14 Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet 2002 1.54
15 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet 2012 1.52
16 Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood 2005 1.52
17 Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants. Am J Psychiatry 2002 1.51
18 Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol 2008 1.51
19 Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A 2008 1.49
20 Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 2012 1.46
21 Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet 2010 1.46
22 Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet 2011 1.46
23 Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet 2011 1.46
24 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet 2004 1.45
25 Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn 2003 1.39
26 Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013 1.36
27 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013 1.35
28 Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex. J Pediatr 2003 1.33
29 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 2013 1.31
30 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 2011 1.28
31 Clinical and molecular genetic features of ARC syndrome. Hum Genet 2006 1.26
32 Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells. Am J Hum Genet 2003 1.24
33 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014 1.24
34 Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus. Nat Struct Mol Biol 2010 1.24
35 Detection of fetal structural abnormalities with US during early pregnancy. Radiographics 2004 1.23
36 From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. Am J Med Genet A 2011 1.21
37 Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 2010 1.20
38 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013 1.19
39 X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A 2003 1.18
40 Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet 2013 1.18
41 Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome. Circulation 2002 1.18
42 Maternal luteoma of pregnancy presenting with virilization of the female infant. J Obstet Gynaecol Can 2007 1.12
43 SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat 2005 1.11
44 Fetal cardiac tumors: a single-center experience of 40 cases. Prenat Diagn 2010 1.11
45 Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A 2011 1.11
46 Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 2013 1.11
47 Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13). Genome Res 2008 1.10
48 A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med 2012 1.08
49 Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A 2003 1.06
50 Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 2013 1.06
51 Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet A 2006 1.06
52 Fetal hepatic calcifications: prenatal diagnosis and outcome. Am J Obstet Gynecol 2002 1.06
53 Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat 2011 1.06
54 Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A 2011 1.06
55 First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther 2006 1.05
56 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet 2013 1.04
57 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet 2010 1.02
58 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet 2012 1.02
59 Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics 2006 1.01
60 Ataxia and pancytopenia caused by a mutation in TINF2. Hum Genet 2008 1.00
61 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab 2013 1.00
62 Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. Am J Med Genet A 2012 0.98
63 Impact of prenatal risk factors on congenital heart disease in the current era. J Am Heart Assoc 2013 0.97
64 Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia. Am J Med Genet A 2010 0.96
65 Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet 2013 0.94
66 Association between second-trimester isolated high maternal serum maternal serum human chorionic gonadotropin levels and obstetric complications in singleton and twin pregnancies. Am J Obstet Gynecol 2003 0.94
67 MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. Hum Mutat 2007 0.94
68 Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A 2012 0.93
69 Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. Am J Med Genet A 2004 0.93
70 Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol 2006 0.92
71 Long-term functional results following resection of neonatal sacrococcygeal teratoma. Pediatr Surg Int 2009 0.91
72 Parents' perspectives on participating in genetic research in autism. J Autism Dev Disord 2013 0.91
73 Male sex bias in placental dysfunction. Am J Med Genet A 2012 0.90
74 XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. Am J Med Genet A 2012 0.90
75 Basilar artery duplication associated with pituitary duplication: a new finding. AJNR Am J Neuroradiol 2003 0.90
76 Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression. Am J Med Genet B Neuropsychiatr Genet 2006 0.89
77 Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A 2011 0.89
78 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat 2009 0.89
79 Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics 2002 0.89
80 Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A 2007 0.89
81 Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet A 2004 0.89
82 Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. Mol Med Rep 2011 0.88
83 Fetal pericardial teratoma: presentation of two cases and review of literature. Am J Perinatol 2006 0.88
84 WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics 2011 0.87
85 Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review. J Matern Fetal Neonatal Med 2005 0.87
86 Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation. Am J Pathol 2013 0.86
87 Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet A 2009 0.86
88 Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 2012 0.86
89 Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions. J Med Genet 2011 0.86
90 Factors influencing participation in a population-based biorepository for childhood heart disease. Pediatrics 2012 0.86
91 What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness). Pediatr Dermatol 2006 0.85
92 Motherisk rounds. Warfarin embryopathy following low-dose maternal exposure. J Obstet Gynaecol Can 2005 0.85
93 Breast and ovarian cancer: the forgotten paternal contribution. J Genet Couns 2011 0.85
94 Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? Clin Dysmorphol 2006 0.85
95 Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Mitochondrion 2010 0.84
96 Long-term neurodevelopment of children exposed in utero to ciclosporin after maternal renal transplant. Paediatr Drugs 2010 0.84
97 Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study. Am J Obstet Gynecol 2005 0.83
98 TSEN54 mutations cause pontocerebellar hypoplasia type 5. Eur J Hum Genet 2011 0.83
99 Prenatal exposure to mycophenolate mofetil: an updated estimate. J Obstet Gynaecol Can 2010 0.83
100 Fetal cardiac defects and increased nuchal translucency thickness: a prospective study. Am J Obstet Gynecol 2004 0.83
101 A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. Am J Med Genet A 2010 0.83
102 Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome. Prenat Diagn 2011 0.82
103 Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. Hypertension 2007 0.82
104 Malignant hematological disorders in children with Wolf-Hirschhorn syndrome. Am J Med Genet A 2003 0.82
105 Duplication of the STS region in males is a benign copy-number variant. Am J Med Genet A 2011 0.82
106 Breast and ovarian cancer: Y do we forget about dad? Lancet Oncol 2010 0.81
107 Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression. J Clin Endocrinol Metab 2014 0.81
108 Examining risk perception among men with a family history of prostate cancer. Patient Educ Couns 2011 0.81
109 Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. Am J Med Genet A 2012 0.81
110 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2015 0.80
111 Genetic transmission of cytochrome P450 2D6 (CYP2D6) ultrarapid metabolism: implications for breastfeeding women taking codeine. Curr Drug Saf 2011 0.80
112 Prenatal diagnosis of Apert syndrome: report of two cases. Prenat Diagn 2003 0.80
113 Expression of cystic fibrosis transmembrane conductance regulator during early human embryo development. Mol Hum Reprod 2002 0.80
114 Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. Am J Med Genet A 2012 0.79
115 High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita. Am J Med Genet A 2008 0.79
116 Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13). Am J Med Genet A 2008 0.79
117 Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large Canadian urban center. Prenat Diagn 2008 0.79
118 Success rate for culture of fetal postmortem tissue is dependent on the method of pregnancy termination. Fetal Diagn Ther 2005 0.79
119 The cycle of genome-directed medicine. Genome Med 2009 0.78
120 Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn 2008 0.78
121 Randomized controlled trial of misoprostol for second-trimester pregnancy termination associated with fetal malformation. Am J Obstet Gynecol 2004 0.78
122 Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. J Child Neurol 2011 0.78
123 Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin. Am J Obstet Gynecol 2006 0.78
124 The fetal cerebellar vermis: assessment for abnormal development by ultrasonography and magnetic resonance imaging. Ultrasound Q 2007 0.78
125 Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. Am J Med Genet A 2010 0.78
126 Keppen-Lubinsky syndrome: Expanding the phenotype. Am J Med Genet A 2009 0.78
127 Tetrasomy 9p mosaicism associated with a normal phenotype. Fetal Diagn Ther 2005 0.77
128 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? Eur J Hum Genet 2011 0.77
129 Second and first trimester estimation of risk for Down syndrome: implementation and performance in the SAFER study. Prenat Diagn 2010 0.77
130 Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. J Pediatr 2012 0.77
131 PGD for a carrier of an intrachromosomal insertion using aCGH. Syst Biol Reprod Med 2014 0.77
132 Early fetal echocardiography--a reliable prenatal diagnosis tool. Am J Obstet Gynecol 2005 0.77
133 A novel disease-causing mutation in AVPR2: Q96H. NDT Plus 2008 0.77
134 PTPN11 gene mutation associated with abnormal gonadal determination. Am J Med Genet A 2011 0.77
135 X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings. Prenat Diagn 2006 0.77
136 Atrial standstill associated with loss of atrial myocytes: a rare cause of fetal bradyarrhythmia. Heart Rhythm 2009 0.77
137 A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease. Can J Neurol Sci 2006 0.77
138 MRI of the fetal eyes: morphologic and biometric assessment for abnormal development with ultrasonographic and clinicopathologic correlation. Pediatr Radiol 2008 0.77
139 Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome? Am J Med Genet A 2006 0.77
140 Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. Pediatr Neurol 2013 0.76
141 Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome. Am J Med Genet A 2008 0.76
142 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. Am J Med Genet A 2007 0.76
143 The genetics you never knew: a genetics primer. Urol Clin North Am 2008 0.76
144 Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 2012 0.76
145 Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat Diagn 2009 0.76
146 Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. Am J Med Genet A 2013 0.76
147 Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? Am J Med Genet A 2012 0.75
148 Abnormalities of the foetal cerebral cortex. Prenat Diagn 2009 0.75
149 In utero exposure to therapeutic radiation for Hodgkin lymphoma. Can Fam Physician 2009 0.75
150 Looking past the lump: genetic aspects of inguinal hernia in children. J Pediatr Surg 2009 0.75
151 Fetal syringomyelia. Acta Neuropathol Commun 2014 0.75
152 Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome. Clin Dysmorphol 2012 0.75
153 A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Clin Dysmorphol 2016 0.75
154 Unexpected contained rupture of a ductus arteriosus aneurysm found at surgical repair in an infant with Loeys-Dietz syndrome. Ann Thorac Surg 2013 0.75
155 Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies. Genet Med 2011 0.75
156 Cavum veli interpositi: prenatal diagnosis and postnatal outcome. Prenat Diagn 2005 0.75
157 Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. Am J Med Genet A 2013 0.75
158 Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature. Am J Med Genet A 2012 0.75
159 Prenatal diagnosis of topsy-turvy heart. Cardiol Young 2008 0.75
160 Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome). Clin Dysmorphol 2009 0.75
161 An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus. Pediatr Dev Pathol 2009 0.75
162 Personality traits associated with genetic counselor compassion fatigue: the roles of dispositional optimism and locus of control. J Genet Couns 2011 0.75
163 XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. Am J Med Genet A 2013 0.75
164 Skull base development and craniosynostosis. Pediatr Radiol 2015 0.75
165 Prenatal detection of microtia by MRI in a fetus with trisomy 22. Pediatr Radiol 2006 0.75
166 QF-PCR rapid aneuploidy screen and aCGH analysis of cell free fetal (cff) DNA in supernatant of compromised amniotic fluids (AF). Prenat Diagn 2014 0.75
167 An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female. Am J Med Genet 2002 0.75
168 Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. Prenat Diagn 2013 0.75
169 Fetal sex assignment by sonographic evaluation of the pelvic organs in the second and third trimesters of pregnancy. J Ultrasound Med 2007 0.75