| Year |
Citation |
Score |
| 2020 |
Chacon Fonseca I, Wong J, Mireskandari K, Chitayat D. Newborn with bilateral congenital cataracts: Never forget congenital rubella syndrome. Paediatrics & Child Health. 25: 72-76. PMID 33390742 DOI: 10.1093/Pch/Pxz005 |
0.37 |
|
| 2020 |
Roifman M, Niles KM, MacNeil L, Blaser S, Noor A, Godoy R, van Mieghem T, Ryan G, Seaward G, Sondheimer N, Mercimek-Andrews S, Schulze A, Hewson S, Ovadia A, Chitayat D, et al. Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Clinical Genetics. PMID 32888207 DOI: 10.1111/Cge.13844 |
0.376 |
|
| 2020 |
Miao Y, Tian L, Martin M, Paige SL, Galdos FX, Li J, Klein A, Zhang H, Ma N, Wei Y, Stewart M, Lee S, Moonen JR, Zhang B, Grossfeld P, ... ... Chitayat D, et al. Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. Cell Stem Cell. PMID 32810435 DOI: 10.1016/J.Stem.2020.07.015 |
0.332 |
|
| 2020 |
Deshwar AR, Martin N, Shannon P, Chitayat D. A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. Clinical Genetics. PMID 32621286 DOI: 10.1111/Cge.13804 |
0.348 |
|
| 2020 |
Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, et al. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Human Mutation. PMID 32579715 DOI: 10.1002/Humu.24067 |
0.358 |
|
| 2020 |
Shinar S, Agrawal S, Ryu M, Van Mieghem T, Daneman A, Ryan G, Zani A, Chiu P, Chitayat D. Fetal Meconium Peritonitis - Prenatal Findings and Postnatal Outcome: A Case Series, Systematic Review, and Meta-Analysis. Ultraschall in Der Medizin (Stuttgart, Germany : 1980). PMID 32575129 DOI: 10.1055/A-1194-4363 |
0.309 |
|
| 2020 |
Alkhunaizi E, Unger S, Shannon P, Nishimura G, Blaser S, Chitayat D. Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants. American Journal of Medical Genetics. Part A. PMID 32506814 DOI: 10.1002/Ajmg.A.61621 |
0.367 |
|
| 2020 |
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, ... ... Chitayat D, et al. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. American Journal of Human Genetics. PMID 32243864 DOI: 10.1016/J.Ajhg.2020.03.008 |
0.3 |
|
| 2020 |
Raghuram N, Marwaha A, Greer MC, Gauda E, Chitayat D. Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. American Journal of Medical Genetics. Part A. PMID 32207556 DOI: 10.1002/Ajmg.A.61569 |
0.397 |
|
| 2019 |
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, ... ... Chitayat D, et al. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. American Journal of Human Genetics. PMID 31883643 DOI: 10.1016/J.Ajhg.2019.12.004 |
0.36 |
|
| 2019 |
Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, ... ... Chitayat D, et al. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. American Journal of Human Genetics. PMID 31630790 DOI: 10.1016/J.Ajhg.2019.09.017 |
0.311 |
|
| 2019 |
Niles KM, Blaser S, Shannon P, Chitayat D. Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS) - Aetiology, diagnosis and management. Prenatal Diagnosis. PMID 31218730 DOI: 10.1002/Pd.5505 |
0.38 |
|
| 2019 |
Sinajon P, Chitayat D, Roifman M, Wasim S, Carmona S, Ryan G, Noor A, Kolomietz E, Chong K. Increased nuchal translucency: results from microarray and RASopathy disorders testing. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. PMID 31115076 DOI: 10.1002/Uog.20352 |
0.328 |
|
| 2019 |
Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D. Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. American Journal of Medical Genetics. Part A. PMID 31074124 DOI: 10.1002/Ajmg.A.61162 |
0.336 |
|
| 2019 |
Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traore M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, et al. Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. Human Molecular Genetics. PMID 31042281 DOI: 10.1093/Hmg/Ddz091 |
0.356 |
|
| 2019 |
Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, et al. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kidney International. PMID 31005274 DOI: 10.1016/J.Kint.2019.01.025 |
0.344 |
|
| 2019 |
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics. PMID 30773277 DOI: 10.1016/J.Ajhg.2019.01.007 |
0.363 |
|
| 2019 |
Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. American Journal of Medical Genetics. Part A. PMID 30652412 DOI: 10.1002/Ajmg.A.61025 |
0.39 |
|
| 2019 |
Kinnear C, Haranal M, Shannon P, Jaeggi E, Chitayat D, Mital S. Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome. Prenatal Diagnosis. 39: 38-44. PMID 30548283 DOI: 10.1002/Pd.5395 |
0.31 |
|
| 2019 |
Altoukhi S, Chitayat D, Keunen J, Roifman M, Seaward G, Windrim R, Ryan G, Mieghem TV. Impact Of Introduction Of Nipt On Uptake Of Genetic Testing In Fetuses With Cns Anomalies Journal of Obstetrics and Gynaecology Canada. 41: 708. DOI: 10.1016/J.Jogc.2019.02.154 |
0.338 |
|
| 2018 |
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, ... ... Chitayat D, et al. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30293988 DOI: 10.1038/S41436-018-0323-Y |
0.335 |
|
| 2018 |
Shuster S, Ankawi G, Licht C, Reiser J, Wang X, Wei C, Chitayat D, Hladunewich M. Fetal Renal Echogenicity Associated with Maternal Focal Segmental Glomerulosclerosis: The Effect of Transplacental Transmission of Permeability Factor suPAR. Journal of Clinical Medicine. 7. PMID 30287750 DOI: 10.3390/Jcm7100324 |
0.345 |
|
| 2018 |
Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM, Alkuraya FS, ... Chitayat D, et al. Warsaw breakage syndrome: Further clinical and genetic delineation. American Journal of Medical Genetics. Part A. PMID 30216658 DOI: 10.1002/Ajmg.A.40482 |
0.388 |
|
| 2018 |
Costain G, Inbar-Feigenberg M, Saleh M, Yaniv-Salem S, Ryan G, Morgen E, Goh ES, Nishimura G, Chitayat D. Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease). Journal of Pediatric Genetics. 7: 134-137. PMID 30105123 DOI: 10.1055/S-0038-1636995 |
0.371 |
|
| 2018 |
Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, et al. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. American Journal of Human Genetics. PMID 29961569 DOI: 10.1016/J.Ajhg.2018.06.005 |
0.371 |
|
| 2018 |
Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, et al. TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. American Journal of Human Genetics. PMID 29861107 DOI: 10.1016/J.Ajhg.2018.04.006 |
0.359 |
|
| 2018 |
Alrukban H, Chitayat D. Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. The Application of Clinical Genetics. 11: 31-44. PMID 29720879 DOI: 10.2147/Tacg.S150982 |
0.352 |
|
| 2018 |
Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, ... ... Chitayat D, et al. Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of-related disorders. Journal of Medical Genetics. PMID 29599419 DOI: 10.1136/Jmedgenet-2017-105222 |
0.357 |
|
| 2018 |
Inbar-Feigenberg M, Blaser S, Hawkins C, Shannon P, Hewson S, Chitayat D. Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest. Metabolic Brain Disease. PMID 29574624 DOI: 10.1007/S11011-018-0218-2 |
0.411 |
|
| 2018 |
Alkhunaizi E, Walkiewicz MA, Chitayat D. Mutation in the ADNP gene associated with Noonan syndrome features. Clinical Dysmorphology. PMID 29424797 DOI: 10.1097/Mcd.0000000000000215 |
0.357 |
|
| 2018 |
Niles KM, Murji A, Chitayat D. Prolonged duration of persistent cell free fetal DNA from a vanishing twin. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. PMID 29330885 DOI: 10.1002/Uog.19004 |
0.373 |
|
| 2017 |
Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29261186 DOI: 10.1097/01.Ogx.0000550387.91867.88 |
0.415 |
|
| 2017 |
Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM. Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features. The Journal of Allergy and Clinical Immunology. PMID 29180244 DOI: 10.1016/J.Jaci.2017.10.033 |
0.359 |
|
| 2017 |
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, et al. Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific Reports. 7: 15585. PMID 29138412 DOI: 10.1038/S41598-017-15442-1 |
0.423 |
|
| 2017 |
Cusimano MC, Chitayat D, Injeyan M, Geary M. Pregnancy in 3M syndrome. Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology. 1-2. PMID 29046114 DOI: 10.1080/01443615.2017.1360849 |
0.323 |
|
| 2017 |
Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, ... ... Chitayat D, et al. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. American Journal of Human Genetics. 101: 466-477. PMID 28886345 DOI: 10.1016/J.Ajhg.2017.08.007 |
0.319 |
|
| 2017 |
Chitayat D, Langlois S, Wilson RD. No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'Obstetrique Et Gynecologie Du Canada : Jogc. 39: e380-e394. PMID 28859781 DOI: 10.1016/J.Jogc.2017.06.013 |
0.35 |
|
| 2017 |
Audibert F, De Bie I, Johnson JA, Okun N, Wilson RD, Armour C, Chitayat D, Kim R. No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'Obstetrique Et Gynecologie Du Canada : Jogc. 39: 805-817. PMID 28859766 DOI: 10.1016/J.Jogc.2017.01.032 |
0.305 |
|
| 2017 |
Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. American Journal of Medical Genetics. Part A. PMID 28840640 DOI: 10.1002/Ajmg.A.38352 |
0.325 |
|
| 2017 |
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, ... ... Chitayat D, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nature Genetics. PMID 28805828 DOI: 10.1038/Ng.3933 |
0.373 |
|
| 2017 |
Chaudhry A, Chung BH, Stavropoulos DJ, Araya MP, Ali A, Heon E, Chitayat D. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. American Journal of Medical Genetics. Part A. PMID 28742278 DOI: 10.1002/Ajmg.A.38321 |
0.365 |
|
| 2017 |
Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. American Journal of Human Genetics. 100: 773-788. PMID 28475860 DOI: 10.1016/J.Ajhg.2017.04.004 |
0.341 |
|
| 2017 |
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, ... ... Chitayat D, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762 |
0.344 |
|
| 2016 |
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, ... ... Chitayat D, et al. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. Npj Genomic Medicine. 1. PMID 28567303 DOI: 10.1038/Npjgenmed.2015.12 |
0.364 |
|
| 2016 |
Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O. Mutations in the NEB gene cause Fetal Akinesia/Arthrogryposis Multiplex Congenita. Prenatal Diagnosis. PMID 27933661 DOI: 10.1002/Pd.4977 |
0.348 |
|
| 2016 |
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, ... Chitayat D, et al. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. American Journal of Human Genetics. PMID 27745832 DOI: 10.1016/J.Ajhg.2016.08.019 |
0.337 |
|
| 2016 |
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH, Bejerano G, ... ... Chitayat D, et al. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. PMID 27738187 DOI: 10.1136/Jmedgenet-2016-104143 |
0.319 |
|
| 2016 |
Irving MD, Dimitrov BI, Wessels M, Holder-Espinasse M, Chitayat D, Simpson MA. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. American Journal of Medical Genetics. Part A. PMID 27642715 DOI: 10.1002/Ajmg.A.37946 |
0.405 |
|
| 2016 |
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. Jci Insight. 1. PMID 27631024 DOI: 10.1172/Jci.Insight.87623 |
0.343 |
|
| 2016 |
Ordal L, Keunen J, Martin N, Shehata N, Borschel GH, Clarke HM, Toi A, Shuman C, Chitayat D. Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia. American Journal of Medical Genetics. Part A. PMID 27530094 DOI: 10.1002/Ajmg.A.37890 |
0.777 |
|
| 2016 |
Al-Maawali A, Yoon G, Feigenbaum AS, Halliday WC, Clarke JT, Branson HM, Banwell BL, Chitayat D, Blaser SI. Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. Neuroradiology. PMID 27516098 DOI: 10.1007/S00234-016-1726-6 |
0.322 |
|
| 2016 |
Lazier J, Martin N, Stavropoulos JD, Chitayat D. Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures. American Journal of Medical Genetics. Part A. PMID 27500688 DOI: 10.1002/Ajmg.A.37876 |
0.382 |
|
| 2016 |
Saleh M, Kamath BM, Chitayat D. Alagille syndrome: clinical perspectives. The Application of Clinical Genetics. 9: 75-82. PMID 27418850 DOI: 10.2147/Tacg.S86420 |
0.344 |
|
| 2016 |
Saleh M, Miron I, Al-Rukban H, Chitayat D, Nezarati MM. Prenatal Presentation of Hereditary Hemorrhagic Telangiectasia - A Report of Two Sibs. Prenatal Diagnosis. PMID 27381467 DOI: 10.1002/Pd.4869 |
0.318 |
|
| 2016 |
Ejaz R, Babul-Hirji R, Chitayat D. The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up. Clinical Case Reports. 4: 351-5. PMID 27099726 DOI: 10.1002/Ccr3.425 |
0.376 |
|
| 2016 |
Xiong S, Chitayat D, Wei X, Zhu J, Lu W, Sun LM, Chopra M. A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. Clinical Dysmorphology. PMID 27092434 DOI: 10.1097/Mcd.0000000000000130 |
0.352 |
|
| 2016 |
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, et al. Clinical delineation of the PACS1-related Syndrome-Report on 19 Patients. American Journal of Medical Genetics. Part A. PMID 26842493 DOI: 10.1002/Ajmg.A.37476 |
0.37 |
|
| 2016 |
Rosenfeld JA, Tucker ME, Escobar LF, Neill NJ, Torchia BS, McDaniel LD, Schultz RA, Chong K, Chitayat D. Diagnostic Utility of Microarray Testing in Pregnancy Loss Obstetrical and Gynecological Survey. 71: 15-16. DOI: 10.1097/01.Ogx.0000476313.59062.43 |
0.301 |
|
| 2015 |
Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, ... ... Chitayat D, et al. NSD1 mutations generate a genome-wide DNA methylation signature. Nature Communications. 6: 10207. PMID 26690673 DOI: 10.1038/Ncomms10207 |
0.34 |
|
| 2015 |
Blaser SI, Padfield N, Chitayat D, Forrest CR. Skull base development and craniosynostosis. Pediatric Radiology. 45: 485-96. PMID 26346154 DOI: 10.1007/S00247-015-3320-1 |
0.305 |
|
| 2015 |
Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical Genetics. PMID 26283276 DOI: 10.1111/Cge.12654 |
0.349 |
|
| 2015 |
Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM. Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. Cellular and Molecular Gastroenterology and Hepatology. 1: 381-394.e7. PMID 26207260 DOI: 10.1016/J.Jcmgh.2015.05.001 |
0.341 |
|
| 2015 |
Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, ... ... Chitayat D, et al. PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics. 47: 647-53. PMID 25961942 DOI: 10.1038/Ng.3302 |
0.321 |
|
| 2015 |
Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, et al. Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population. American Journal of Medical Genetics. Part A. PMID 25946043 DOI: 10.1002/Ajmg.A.37134 |
0.335 |
|
| 2015 |
Rosenfeld JA, Tucker ME, Escobar LF, Neill NJ, Torchia BS, McDaniel LD, Schultz RA, Chong K, Chitayat D. Diagnostic utility of microarray testing of pregnancy losses. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. PMID 25846569 DOI: 10.1002/Uog.14866 |
0.37 |
|
| 2015 |
Sakhuja P, Whyte H, Kamath B, Martin N, Chitayat D. Williams syndrome presenting with findings consistent with Alagille syndrome. Clinical Case Reports. 3: 24-8. PMID 25678968 DOI: 10.1002/Ccr3.138 |
0.355 |
|
| 2015 |
Barkova E, Mohan U, Chitayat D, Keating S, Toi A, Frank J, Frank R, Tomlinson G, Glanc P. Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases. Clinical Genetics. 87: 330-7. PMID 24863959 DOI: 10.1111/Cge.12434 |
0.358 |
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| 2015 |
Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G, Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clinical Genetics. 87: 34-41. PMID 24716670 DOI: 10.1111/Cge.12401 |
0.377 |
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| 2015 |
Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D. Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clinical Genetics. 87: 378-82. PMID 24697860 DOI: 10.1111/Cge.12388 |
0.352 |
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| 2015 |
Nezarati MM, Bedford H, Chong K, Toi A, Chitayat D. MG-104 Fetal jugular lymph sacs – what is the significance? Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103578.5 |
0.425 |
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| 2015 |
Chad L, Chung BH, Marshall CR, Merico D, Babul-Hirji R, Stavropoulos DJ, Chitayat D. MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103577.2 |
0.407 |
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| 2015 |
Ejaz R, Babul-Hirji R, Chitayat D. MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103577.12 |
0.376 |
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| 2015 |
Chad L, Thompson M, Miron I, Shannon P, Keating S, Chitayat D. MG-105 Facial dysmorphism, skeletal abnormalities and central nervous system abnormalities in two sibs born to a consanguineous couple: A new autosomal recessive condition Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103577.1 |
0.394 |
|
| 2015 |
Glanc P, Barkova E, Mohan U, Toi A, Keating S, Chitayat D. OC23.05: Prenatal diagnosis of fetal musculoskeletal disorders: how accurate can we be? Ultrasound in Obstetrics & Gynecology. 46: 50-51. DOI: 10.1002/Uog.15097 |
0.315 |
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| 2014 |
Tonni G, Lituania M, Chitayat D, Bonasoni MP, Keating S, Thompson M, Shannon P. Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities. Taiwanese Journal of Obstetrics & Gynecology. 53: 592-7. PMID 25510707 DOI: 10.1016/J.Tjog.2014.01.005 |
0.382 |
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| 2014 |
Wilson RD, Wilson RD, Audibert F, Brock JA, Campagnolo C, Carroll J, Cartier L, Chitayat D, Gagnon A, Johnson JA, Langlois S, MacDonald WK, Murphy-Kaulbeck L, Okun N, et al. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'Obstã©Trique Et Gynã©Cologie Du Canada : Jogc. 36: 927-42. PMID 25375307 DOI: 10.1016/S1701-2163(15)30444-8 |
0.301 |
|
| 2014 |
Jones CA, Kolomietz E, Maire G, Vlasschaert M, Joseph-George AM, Myles-Reid D, Chong K, Chitayat D, Arthur R. PGD for a carrier of an intrachromosomal insertion using aCGH. Systems Biology in Reproductive Medicine. 60: 377-82. PMID 25247722 DOI: 10.3109/19396368.2014.962710 |
0.349 |
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| 2014 |
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clinical Genetics. PMID 25131214 DOI: 10.1111/Cge.12482 |
0.353 |
|
| 2014 |
Weber R, Kantor P, Chitayat D, Friedberg MK, Golding F, Mertens L, Nield LE, Ryan G, Seed M, Yoo SJ, Manlhiot C, Jaeggi E. Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life. Jacc. Heart Failure. 2: 403-11. PMID 25023818 DOI: 10.1016/J.Jchf.2014.02.010 |
0.327 |
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| 2014 |
Inbar-Feigenberg M, Meirowitz N, Nanda D, Toi A, Okun N, Chitayat D. Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis. Ultrasound in Obstetrics & Gynecology. 44: 486-490. PMID 24585410 DOI: 10.1002/Uog.13350 |
0.434 |
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| 2014 |
Dempsey MA, Knight Johnson AE, Swope BS, Moldenhauer JS, Sroka H, Chong K, Chitayat D, Briere L, Lyon H, Palmer N, Gopalani S, Siebert JR, Lévesque S, Leblanc J, Menzies D, et al. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenatal Diagnosis. 34: 163-7. PMID 24218399 DOI: 10.1002/Pd.4279 |
0.427 |
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| 2014 |
Chung BH, Bradley T, Grosse-Wortmann L, Blaser S, Dirks P, Hinek A, Chitayat D. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. American Journal of Medical Genetics. Part A. 164: 461-6. PMID 24194458 DOI: 10.1002/Ajmg.A.36246 |
0.406 |
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| 2013 |
Kava M, Chitayat D, Blaser S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. Pediatric Neurology. 49: 374-8. PMID 24139536 DOI: 10.1016/J.Pediatrneurol.2013.06.022 |
0.324 |
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| 2013 |
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, et al. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron. 80: 429-41. PMID 24139043 DOI: 10.1016/J.Neuron.2013.08.013 |
0.355 |
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| 2013 |
Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier MP, Capo-Chichi JM, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. American Journal of Human Genetics. 93: 765-72. PMID 24075189 DOI: 10.1016/J.Ajhg.2013.08.014 |
0.344 |
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| 2013 |
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, ... ... Chitayat D, et al. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Molecular Genetics and Metabolism. 110: 352-61. PMID 24035636 DOI: 10.1016/J.Ymgme.2013.08.009 |
0.396 |
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| 2013 |
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, ... ... Chitayat D, et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology. 81: 992-8. PMID 23935176 DOI: 10.1212/Wnl.0B013E3182A43E57 |
0.37 |
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| 2013 |
Ladhani NN, Chitayat D, Nezarati MM, Laureane MC, Keating S, Silver RJ, Unger S, Velsher L, Sirkin W, Toi A, Glanc P. Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. Prenatal Diagnosis. 33: 1039-43. PMID 23836246 DOI: 10.1002/Pd.4193 |
0.39 |
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| 2013 |
Fung A, Manlhiot C, Naik S, Rosenberg H, Smythe J, Lougheed J, Mondal T, Chitayat D, McCrindle BW, Mital S. Impact of prenatal risk factors on congenital heart disease in the current era. Journal of the American Heart Association. 2: e000064. PMID 23727699 DOI: 10.1161/Jaha.113.000064 |
0.357 |
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| 2013 |
Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. American Journal of Medical Genetics. Part A. 161: 1792-6. PMID 23713026 DOI: 10.1002/Ajmg.A.36036 |
0.4 |
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| 2013 |
Siriwardena K, Al-Maawali A, Guerin A, Blaser S, Chitayat D. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. American Journal of Medical Genetics. Part A. 161: 1714-7. PMID 23686794 DOI: 10.1002/Ajmg.A.35945 |
0.355 |
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| 2013 |
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, ... Chitayat D, et al. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. American Journal of Human Genetics. 92: 927-34. PMID 23664117 DOI: 10.1016/J.Ajhg.2013.04.003 |
0.322 |
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| 2013 |
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia. 54: 1282-7. PMID 23621294 DOI: 10.1111/Epi.12200 |
0.359 |
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| 2013 |
New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proceedings of the National Academy of Sciences of the United States of America. 110: 2611-6. PMID 23359698 DOI: 10.1073/Pnas.1300057110 |
0.37 |
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| 2013 |
Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, et al. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Human Molecular Genetics. 22: 1746-54. PMID 23359570 DOI: 10.1093/Hmg/Ddt021 |
0.366 |
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| 2013 |
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. American Journal of Human Genetics. 92: 137-43. PMID 23273567 DOI: 10.1016/J.Ajhg.2012.11.011 |
0.351 |
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| 2013 |
Gucev ZS, Tee MK, Chitayat D, Wherrett DK, Miller WL. Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. The Journal of Pediatrics. 162: 819-22. PMID 23158025 DOI: 10.1016/J.Jpeds.2012.10.012 |
0.312 |
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| 2013 |
Wertaschnigg D, Jaeggi M, Chitayat D, Shannon P, Ryan G, Thompson M, Yoo SJ, Jaeggi E. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single‐center experience and review of the literature Ultrasound in Obstetrics & Gynecology. 41: 162-167. PMID 22605612 DOI: 10.1002/Uog.11193 |
0.357 |
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| 2012 |
Guerin A, Stavropoulos DJ, Diab Y, Chénier S, Christensen H, Kahr WH, Babul-Hirji R, Chitayat D. Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. American Journal of Medical Genetics. Part A. 158: 2551-6. PMID 22965935 DOI: 10.1002/Ajmg.A.35621 |
0.375 |
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| 2012 |
Chung B, Hinek A, Keating S, Weksberg R, Shah V, Blaser S, Hawkins C, Chitayat D. Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? American Journal of Medical Genetics. Part A. 158: 2373-81. PMID 22965799 DOI: 10.1002/Ajmg.A.35570 |
0.31 |
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| 2012 |
Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky J, Chitayat D. Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature. American Journal of Medical Genetics. Part A. 158: 1977-81. PMID 22711382 DOI: 10.1002/Ajmg.A.35436 |
0.351 |
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| 2012 |
Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. American Journal of Medical Genetics. Part A. 158: 1759-64. PMID 22678921 DOI: 10.1002/Ajmg.A.35390 |
0.311 |
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| 2012 |
Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. American Journal of Medical Genetics. Part A. 158: 1579-88. PMID 22639462 DOI: 10.1002/Ajmg.A.35399 |
0.337 |
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| 2012 |
Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. American Journal of Medical Genetics. Part A. 158: 1388-94. PMID 22585446 DOI: 10.1002/Ajmg.A.35358 |
0.396 |
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| 2012 |
Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L. Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. American Journal of Medical Genetics. Part A. 158: 1344-54. PMID 22581468 DOI: 10.1002/Ajmg.A.35339 |
0.383 |
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| 2012 |
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, ... ... Chitayat D, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics. 44: 581-5. PMID 22522421 DOI: 10.1038/Ng.2253 |
0.377 |
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| 2012 |
Murji A, Proctor LK, Paterson AD, Chitayat D, Weksberg R, Kingdom J. Male sex bias in placental dysfunction. American Journal of Medical Genetics. Part A. 158: 779-83. PMID 22407866 DOI: 10.1002/Ajmg.A.35250 |
0.335 |
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| 2012 |
Chung BH, Fernandez B, Li C, Chitayat D. 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. Clinical Dysmorphology. 21: 109-11. PMID 22391622 DOI: 10.1097/Mcd.0B013E32834E9290 |
0.323 |
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| 2012 |
Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D. Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. American Journal of Human Genetics. 90: 550-7. PMID 22387015 DOI: 10.1016/J.Ajhg.2012.02.005 |
0.308 |
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| 2012 |
Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC. A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 543-51. PMID 22281939 DOI: 10.1038/Gim.2011.44 |
0.33 |
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| 2012 |
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA, Chitayat D, Boycott KM, Weaver DD, et al. Mutations in EZH2 cause Weaver syndrome. American Journal of Human Genetics. 90: 110-8. PMID 22177091 DOI: 10.1016/J.Ajhg.2011.11.018 |
0.371 |
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| 2012 |
Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. American Journal of Medical Genetics. Part A. 158: 182-7. PMID 22106044 DOI: 10.1002/Ajmg.A.34355 |
0.392 |
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| 2012 |
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, et al. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation. 33: 316-26. PMID 22095942 DOI: 10.1002/Humu.21661 |
0.358 |
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| 2012 |
Sakhuja P, Whyte H, Chitayat D. 559 Williams Syndrome Presenting with findings Consistent with Alagille Syndrome Archives of Disease in Childhood. 97. DOI: 10.1136/Archdischild-2012-302724.0559 |
0.392 |
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| 2011 |
Langlois S, Duncan A, Wilson RD, Audibert F, Brock J, Carroll J, Cartier L, Désilets VA, Gagnon A, Johnson J, Murphy-Kaulbeck L, Okun N, Pastuck M, Chitayat D, DeBie I, et al. Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies Journal of Obstetrics and Gynaecology Canada. 33: 955-960. PMID 21923994 DOI: 10.1016/S1701-2163(16)35022-8 |
0.342 |
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| 2011 |
Chitayat D, Langlois S, Wilson RD. Prenatal screening for fetal aneuploidy in singleton pregnancies. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'ObstéTrique Et GynéCologie Du Canada : Jogc. 33: 736-50. PMID 21749752 DOI: 10.1016/S1701-2163(16)34961-1 |
0.349 |
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| 2011 |
Skidmore DL, Chitayat D, Morgan T, Hinek A, Fischer B, Dimopoulou A, Somers G, Halliday W, Blaser S, Diambomba Y, Lemire EG, Kornak U, Robertson SP. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). American Journal of Medical Genetics. Part A. 155: 1848-56. PMID 21739576 DOI: 10.1002/Ajmg.A.34057 |
0.378 |
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| 2011 |
Furrow A, Theisen A, Velsher L, Bawle EV, Sastry S, Mendelsohn NJ, Jarvis K, Shaffer LG, Chitayat D. Duplication of the STS region in males is a benign copy-number variant. American Journal of Medical Genetics. Part A. 155: 1972-5. PMID 21739574 DOI: 10.1002/Ajmg.A.33985 |
0.34 |
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| 2011 |
Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, et al. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nature Genetics. 43: 527-9. PMID 21552266 DOI: 10.1038/Ng.822 |
0.354 |
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| 2011 |
Jain Ghai S, Keating S, Chitayat D. PTPN11 gene mutation associated with abnormal gonadal determination. American Journal of Medical Genetics. Part A. 155: 1136-9. PMID 21465649 DOI: 10.1002/Ajmg.A.33873 |
0.386 |
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| 2011 |
Chung B, Shaffer LG, Keating S, Johnson J, Casey B, Chitayat D. From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. American Journal of Medical Genetics. Part A. 155: 1123-8. PMID 21465648 DOI: 10.1002/Ajmg.A.33859 |
0.381 |
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| 2011 |
Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY. Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. Journal of Child Neurology. 26: 288-94. PMID 21383226 DOI: 10.1177/0883073810380047 |
0.359 |
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| 2011 |
Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F. TSEN54 mutations cause pontocerebellar hypoplasia type 5. European Journal of Human Genetics : Ejhg. 19: 724-6. PMID 21368912 DOI: 10.1038/Ejhg.2011.8 |
0.372 |
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| 2011 |
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Human Mutation. 32: 610-9. PMID 21344540 DOI: 10.1002/Humu.21480 |
0.386 |
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| 2011 |
Fong K, Chong K, Toi A, Uster T, Blaser S, Chitayat D. Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome. Prenatal Diagnosis. 31: 395-400. PMID 21328578 DOI: 10.1002/Pd.2703 |
0.314 |
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| 2011 |
Barnett CP, Chitayat D, Bradley TJ, Wang Y, Hinek A. Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? European Journal of Human Genetics : Ejhg. 19: 624-33. PMID 21267002 DOI: 10.1038/Ejhg.2010.259 |
0.322 |
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| 2011 |
Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, et al. Genotype-phenotype analysis of the branchio-oculo-facial syndrome. American Journal of Medical Genetics. Part A. 155: 22-32. PMID 21204207 DOI: 10.1002/Ajmg.A.33783 |
0.399 |
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| 2011 |
Amsalem H, Fitzgerald B, Keating S, Ryan G, Keunen J, Pippi Salle JL, Berger H, Aiello H, Otaño L, Bernier F, Chitayat D. Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 37: 678-83. PMID 20981865 DOI: 10.1002/Uog.8862 |
0.39 |
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| 2011 |
Duncan A, Langlois S, Wilson RD, Audibert F, Brock J, Carroll J, Cartier L, Gagnon A, Johnson J, Murphy-Kaulbeck L, Okun N, Pastuck M, Chitayat D, DeBie I, Demczuk S, et al. Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada Journal of Obstetrics and Gynaecology Canada. 33: 1256-1259. DOI: 10.1016/S1701-2163(16)35112-X |
0.337 |
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| 2010 |
Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, ... ... Chitayat D, et al. Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. Molecular Syndromology. 1: 262-271. PMID 22140379 DOI: 10.1159/000328405 |
0.316 |
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| 2010 |
Klieger-Grossmann C, Chitayat D, Lavign S, Kao K, Garcia-Bournissen F, Quinn D, Luo V, Sermer M, Riordan S, Laskin C, Matok I, Gorodischer R, Chambers C, Levi A, Koren G. Prenatal exposure to mycophenolate mofetil: an updated estimate. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'ObstéTrique Et GynéCologie Du Canada : Jogc. 32: 794-7. PMID 21050513 DOI: 10.1016/S1701-2163(16)34622-9 |
0.367 |
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| 2010 |
Barnett CP, Wilson GJ, Chiasson DA, Gross GJ, Hinek A, Hawkins C, Chitayat D. Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. American Journal of Medical Genetics. Part A. 152: 2409-12. PMID 20803651 DOI: 10.1002/Ajmg.A.33406 |
0.41 |
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| 2010 |
Yinon Y, Chitayat D, Blaser S, Seed M, Amsalem H, Yoo S, Jaeggi ET. Fetal cardiac tumors: a single-center experience of 40 cases. Prenatal Diagnosis. 30: 941-949. PMID 20721876 DOI: 10.1002/Pd.2590 |
0.303 |
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| 2010 |
Winsor EJT, Akoury H, Chitayat D, Steele L, Stockley TL. The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis Prenatal Diagnosis. 30: 746-752. PMID 20661888 DOI: 10.1002/Pd.2530 |
0.317 |
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| 2010 |
Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. American Journal of Medical Genetics. Part A. 152: 1411-9. PMID 20503315 DOI: 10.1002/Ajmg.A.33416 |
0.397 |
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| 2010 |
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, et al. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Journal of Medical Genetics. 47: 453-63. PMID 20472660 DOI: 10.1136/Jmg.2009.073205 |
0.35 |
|
| 2010 |
MacRae AR, Chodirker BN, Davies GA, Palomaki GE, Knight GJ, Minett J, Kavsak PA, Toi A, Chitayat D, Van Caeseele PG. Second and first trimester estimation of risk for Down syndrome: implementation and performance in the SAFER study. Prenatal Diagnosis. 30: 459-66. PMID 20440734 DOI: 10.1002/Pd.2502 |
0.303 |
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| 2010 |
Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. American Journal of Medical Genetics. Part A. 152: 1268-72. PMID 20425834 DOI: 10.1002/Ajmg.A.33319 |
0.361 |
|
| 2010 |
Chung HY, Chu L, Forrest C, Silver R, Toi A, Blaser S, Viero S, Taylor G, Chitayat D. Fetal forehead hemangiopericytoma: prenatal diagnosis and postnatal outcome. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 36: 121-4. PMID 20217893 DOI: 10.1002/Uog.7624 |
0.314 |
|
| 2010 |
Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, et al. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology. 138: 2388-98, 2398.e1-2. PMID 20176027 DOI: 10.1053/J.Gastro.2010.02.010 |
0.359 |
|
| 2010 |
Yinon Y, Kingdom JC, Proctor LK, Kelly EN, Salle JL, Wherrett D, Keating S, Nevo O, Chitayat D. Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitalia. American Journal of Medical Genetics. Part A. 152: 75-83. PMID 20014131 DOI: 10.1002/Ajmg.A.33140 |
0.35 |
|
| 2010 |
Shaffer LG, Chitayat D. Chromosomal Microarrays: The Benefits And Challenges Of Introduction Into Prenatal Diagnosis Fetal and Maternal Medicine Review. 21: 307-322. DOI: 10.1017/S0965539510000112 |
0.383 |
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| 2009 |
Lemaire M, Chitayat D, Geary DF, Bichet DG, Licht C. A novel disease-causing mutation in AVPR2: Q96H. Ndt Plus. 2: 20-2. PMID 25949277 DOI: 10.1093/Ndtplus/Sfn163 |
0.343 |
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| 2009 |
Horike SI, Ferreira JCP, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R. 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 American Journal of Medical Genetics, Part A. 149: 2415-2423. PMID 19876907 DOI: 10.1002/Ajmg.A.33065 |
0.317 |
|
| 2009 |
Roifman C, Chitayat D. Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. Clinical Genetics. 76: 449-457. PMID 19863561 DOI: 10.1111/J.1399-0004.2009.01239.X |
0.326 |
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| 2009 |
Jaeggi ET, Chitayat D, Taylor G. Atrial standstill associated with loss of atrial myocytes: a rare cause of fetal bradyarrhythmia. Heart Rhythm. 6: 1370-2. PMID 19716093 DOI: 10.1016/J.Hrthm.2009.04.026 |
0.3 |
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| 2009 |
Proctor LK, Toal M, Keating S, Chitayat D, Okun N, Windrim RC, Smith GCS, Kingdom JCP. Placental size and the prediction of severe early-onset intrauterine growth restriction in women with low pregnancy-associated plasma protein-A. Ultrasound in Obstetrics & Gynecology. 34: 274-282. PMID 19672838 DOI: 10.1002/Uog.7308 |
0.312 |
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| 2009 |
Basel-Vanagaite L, Shaffer L, Chitayat D. Keppen-Lubinsky syndrome: Expanding the phenotype. American Journal of Medical Genetics Part A. 149: 1827-1829. PMID 19610118 DOI: 10.1002/Ajmg.A.32975 |
0.338 |
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| 2009 |
Barnett C, Langer JC, Hinek A, Bradley TJ, Chitayat D. Looking past the lump: genetic aspects of inguinal hernia in children. Journal of Pediatric Surgery. 44: 1423-31. PMID 19573673 DOI: 10.1016/J.Jpedsurg.2008.12.022 |
0.318 |
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| 2009 |
Song MS, Hu A, Dyhamenahali U, Chitayat D, Winsor EJT, Ryan G, Smallhorn J, Barrett J, Yoo S-, Hornberger LK. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses Ultrasound in Obstetrics & Gynecology. 33: 552-559. PMID 19350566 DOI: 10.1002/Uog.6309 |
0.383 |
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| 2009 |
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, ... ... Chitayat D, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 46: 389-98. PMID 19346217 DOI: 10.1136/Jmg.2008.063818 |
0.391 |
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| 2009 |
Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, Clarke JT, Toi A, Tarnopolsky M, Robinson B, Blaser S. Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence. Fetal Diagnosis and Therapy. 25: 177-82. PMID 19321960 DOI: 10.1159/000209385 |
0.419 |
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| 2009 |
Koifman A, Shannon P, Kingdom J, Chitayat D. Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome). Clinical Dysmorphology. 18: 151-3. PMID 19318925 DOI: 10.1097/Mcd.0B013E328328D4B9 |
0.337 |
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| 2009 |
Chong K, Keating S, Hurst S, Summers A, Berger H, Seaward G, Martin N, Friedberg T, Chitayat D. Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenatal Diagnosis. 29: 489-94. PMID 19242925 DOI: 10.1002/Pd.2228 |
0.434 |
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| 2009 |
Toi A, Chitayat D, Blaser S. Abnormalities of the foetal cerebral cortex. Prenatal Diagnosis. 29: 355-371. PMID 19235759 DOI: 10.1002/Pd.2211 |
0.304 |
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| 2009 |
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, ... Chitayat D, et al. Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Human Mutation. 30: E330-7. PMID 18853461 DOI: 10.1002/Humu.20900 |
0.366 |
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| 2009 |
Ryan G, Amsalem H, Chitayat D, Salle P, Fitzgerald B, Toi A. P17.06: Congenital megalourethra—sonographic features & outcome Ultrasound in Obstetrics & Gynecology. 34: 243-243. DOI: 10.1002/Uog.7239 |
0.372 |
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| 2008 |
Langlois S, Ford JC, Chitayat D, Désilets VA, Farrell SA, Geraghty M, Nelson T, Nikkel SM, Shugar A, Skidmore D, Allen VM, Audibert F, Blight C, Gagnon A, Johnson JA, et al. Carrier screening for thalassemia and hemoglobinopathies in Canada. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'Obstã©Trique Et Gynã©Cologie Du Canada : Jogc. 30: 950-71. PMID 19038079 DOI: 10.1016/S1701-2163(16)32975-9 |
0.347 |
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| 2008 |
Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. American Journal of Medical Genetics. Part A. 146: 3038-53. PMID 19006208 DOI: 10.1002/Ajmg.A.32554 |
0.353 |
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| 2008 |
Tsangaris E, Adams SL, Yoon G, Chitayat D, Lansdorp P, Dokal I, Dror Y. Ataxia and pancytopenia caused by a mutation in TINF2. Human Genetics. 124: 507-13. PMID 18979121 DOI: 10.1007/S00439-008-0576-7 |
0.39 |
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| 2008 |
Simon-Bouy B, Taillandier A, Fauvert D, Brun-Heath I, Serre J, Armengod CG, Bialer MG, Mathieu M, Cousin J, Chitayat D, Liebelt J, Feldman B, Gérard-Blanluet M, Körtge-Jung S, King C, et al. Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling Prenatal Diagnosis. 28: 993-998. PMID 18925618 DOI: 10.1002/Pd.2088 |
0.383 |
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| 2008 |
Chitayat D, Wyatt PR, Wilson RD, Johnson JA, Audibert F, Allen V, Gagnon A, Langlois S, Blight C, Brock JA, Désilets V, Farell SA, Geraghty M, et al. Fragile X testing in obstetrics and gynaecology in Canada. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'Obstã©Trique Et Gynã©Cologie Du Canada : Jogc. 30: 837-46. PMID 18845054 DOI: 10.1016/S1701-2163(16)32949-8 |
0.341 |
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| 2008 |
Gajecka M, Gentles AJ, Tsai A, Chitayat D, Mackay KL, Glotzbach CD, Lieber MR, Shaffer LG. Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13) Genome Research. 18: 1733-1742. PMID 18765821 DOI: 10.1101/Gr.077453.108 |
0.32 |
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| 2008 |
Shah PS, Murthy P, Skidmore D, Shaffer LG, Bejjani BA, Chitayat D. Williams syndrome in a preterm infant with phenotype of Alagille syndrome. American Journal of Medical Genetics Part A. 146: 2407-2411. PMID 18688871 DOI: 10.1002/Ajmg.A.32356 |
0.357 |
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| 2008 |
Guo L, Choufani S, Ferreira J, Smith A, Chitayat D, Shuman C, Uxa R, Keating S, Kingdom J, Weksberg R. Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae Developmental Biology. 320: 79-91. PMID 18550048 DOI: 10.1016/J.Ydbio.2008.04.025 |
0.303 |
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| 2008 |
Jaeggi E, Chitayat D, Golding F, Kim P, Yoo SJ. Prenatal diagnosis of topsy-turvy heart Cardiology in the Young. 18: 337-342. PMID 18460225 DOI: 10.1017/S1047951108002308 |
0.311 |
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| 2008 |
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, ... ... Chitayat D, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation. 29: 959-65. PMID 18446851 DOI: 10.1002/Humu.20746 |
0.379 |
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| 2008 |
McAuliffe F, Chitayat D, Halliday W, Keating S, Shah V, Fink M, Nevo O, Ryan G, Shannon P, Blaser S. Rhombencephalosynapsis: prenatal imaging and autopsy findings. Ultrasound in Obstetrics & Gynecology. 31: 542-548. PMID 18409180 DOI: 10.1002/Uog.5318 |
0.344 |
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| 2008 |
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, ... ... Chitayat D, et al. Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics. 82: 477-88. PMID 18252227 DOI: 10.1016/J.Ajhg.2007.12.009 |
0.343 |
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| 2008 |
Bähring S, Kann M, Neuenfeld Y, Gong M, Chitayat D, Toka HR, Toka O, Plessis G, Maass P, Rauch A, Aydin A, Luft FC. Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA. Hypertension. 51: 426-31. PMID 18086950 DOI: 10.1161/Hypertensionaha.107.101774 |
0.302 |
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| 2008 |
Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). American Journal of Medical Genetics. Part A. 146: 182-90. PMID 18076099 DOI: 10.1002/Ajmg.A.32080 |
0.304 |
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| 2008 |
Somech R, Somers GR, Chitayat D, Grunebaum E, Atkinson A, Kolomietz E, Roifman CM. Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome. American Journal of Medical Genetics Part A. 146: 8-14. PMID 17937424 DOI: 10.1002/Ajmg.A.32014 |
0.319 |
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| 2008 |
Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F, Franco B. 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. Molecular Medicine Reports. 1: 33-39. DOI: 10.3892/Mmr.1.1.33 |
0.305 |
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| 2008 |
Koifman A, Nevo O, Toi A, Chitayat D. Diagnostic Approach to Prenatally Diagnosed Limb Abnormalities Ultrasound Clinics. 3: 595-608. DOI: 10.1016/J.Cult.2008.09.003 |
0.399 |
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| 2007 |
Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. American Journal of Medical Genetics. Part A. 143: 3280-5. PMID 18000911 DOI: 10.1002/Ajmg.A.32022 |
0.383 |
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| 2007 |
Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15 American Journal of Medical Genetics, Part A. 143: 3010-3015. PMID 18000906 DOI: 10.1002/Ajmg.A.32030 |
0.363 |
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| 2007 |
Sermer D, Quercia N, Chong K, Chitayat D. Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. American Journal of Medical Genetics Part A. 143: 3286-3289. PMID 18000904 DOI: 10.1002/Ajmg.A.32021 |
0.372 |
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| 2007 |
Spitzer RF, Wherrett D, Chitayat D, Colgan T, Dodge JE, Salle JL, Allen L. Maternal luteoma of pregnancy presenting with virilization of the female infant. Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'ObstéTrique Et GynéCologie Du Canada : Jogc. 29: 835-40. PMID 17915067 DOI: 10.1016/S1701-2163(16)32642-1 |
0.34 |
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| 2007 |
Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. American Journal of Medical Genetics. Part A. 143: 1268-81. PMID 17506106 DOI: 10.1002/Ajmg.A.31788 |
0.389 |
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| 2007 |
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-MartÃnez L, Keating S, Mortier G, Hennekam RC, et al. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. American Journal of Human Genetics. 80: 550-60. PMID 17273977 DOI: 10.1086/512203 |
0.396 |
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| 2007 |
Ben-Neriah Z, Withers S, Thomas M, Toi A, Chong K, Pai A, Velscher L, Vero S, Keating S, Taylor G, Chitayat D. OEIS complex: prenatal ultrasound and autopsy findings Ultrasound in Obstetrics & Gynecology. 29: 170-177. PMID 17221944 DOI: 10.1002/Uog.3874 |
0.385 |
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| 2007 |
Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G. MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. Human Mutation. 28: 206-207. PMID 17221865 DOI: 10.1002/Humu.9480 |
0.407 |
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| 2007 |
Rohrbach M, Chitayat D, Drake J, Velsher L, Sirkin WL, Blaser S. Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging. Fetal Diagnosis and Therapy. 22: 112-115. PMID 17135755 DOI: 10.1159/000097107 |
0.337 |
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| 2007 |
Spitzer RF, Wherrett D, Chitayat D, Dodge JE, Salle JLP, Allen LM. Maternal Luteoma of Pregnancy Presenting With Virilization in the Female Infant Journal of Pediatric and Adolescent Gynecology. 20. DOI: 10.1016/J.Jpag.2007.03.051 |
0.303 |
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| 2007 |
Keunen J, Chitayat D, Windrim R, Blaser S. P30.05: Fetal MRI and 2D ultrasound imaging of unilateral choanal atresia in case of progressive unilateral ventriculomegaly, hypertelorism and nasal hypoplasia Ultrasound in Obstetrics & Gynecology. 30: 565-565. DOI: 10.1002/Uog.4759 |
0.372 |
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| 2007 |
Keunen J, Chitayat D, Windrim R, Seaward PG, Ryan G, Chong K, Toi A. OC238: Prenatal diagnosis of upper limb reduction defects: a case series from a tertiary care center Ultrasound in Obstetrics & Gynecology. 30: 440-440. DOI: 10.1002/Uog.4344 |
0.351 |
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| 2006 |
Shah PS, Siriwardena K, Taylor G, Steele L, Ray P, Blaser S, Chitayat D. Sudden infant death in a patient with FGFR3 P250R mutation. American Journal of Medical Genetics Part A. 140: 2794-2796. PMID 17103449 DOI: 10.1002/Ajmg.A.31517 |
0.376 |
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| 2006 |
Umranikar S, Glanc P, Unger S, Keating S, Fong K, Trevors CD, Myles-Reid D, Chitayat D. X‐Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings Prenatal Diagnosis. 26: 1235-1240. PMID 17086568 DOI: 10.1002/Pd.1594 |
0.414 |
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| 2006 |
Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K. A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 33: 311-6. PMID 17001820 DOI: 10.1017/S0317167100005199 |
0.321 |
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| 2006 |
Maegawa GHB, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, Kim J, Taylor G, McNamara PJ. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: A new mandibulofacial dysostosis syndrome? Clinical Dysmorphology. 15: 191-196. PMID 16957470 DOI: 10.1097/01.Mcd.0000198932.09330.33 |
0.353 |
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| 2006 |
Gundogan M, Fong K, Keating S, Pierre-Louis J, Chitayat D. First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagnosis and Therapy. 21: 466-470. PMID 16912497 DOI: 10.1159/000093890 |
0.371 |
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| 2006 |
Fluss J, Blaser S, Chitayat D, Akoury H, Glanc P, Skidmore M, Raybaud C. Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders Journal of Child Neurology. 21: 320-324. PMID 16900929 DOI: 10.1177/08830738060210041001 |
0.391 |
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| 2006 |
Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, GarcÃa-Cazorla A, Guyot D, Jacquemont S, Koletzko S, et al. Clinical and molecular genetic features of ARC syndrome. Human Genetics. 120: 396-409. PMID 16896922 DOI: 10.1007/S00439-006-0232-Z |
0.42 |
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| 2006 |
Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection Nature Genetics. 38: 910-916. PMID 16845400 DOI: 10.1038/Ng1842 |
0.327 |
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| 2006 |
Langlois S, Wilson D, Wilson RD, Allen VM, Blight C, Désilets VA, Gagnon A, Reid GJ, Summers A, Wyatt P, Chitayat D, Chudley AE, Farrell S, Geraghty MT, Li C, et al. Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent Journal of Obstetrics and Gynaecology Canada : Jogc = Journal D'ObstéTrique Et GynéCologie Du Canada : Jogc.. 28: 324-343. PMID 16776912 DOI: 10.1016/S1701-2163(16)32131-4 |
0.315 |
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| 2006 |
Milic A, Blaser S, Robinson A, Viero S, Halliday W, Winsor E, Toi A, Thomas M, Chitayat D. Prenatal detection of microtia by MRI in a fetus with trisomy 22. Pediatric Radiology. 36: 706-710. PMID 16770674 DOI: 10.1007/S00247-006-0155-9 |
0.36 |
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| 2006 |
Shah PS, Weksberg R, Chitayat D. Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome? American Journal of Medical Genetics. Part A. 140: 1312-5. PMID 16691625 DOI: 10.1002/Ajmg.A.31274 |
0.376 |
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| 2006 |
Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, et al. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Journal of Medical Genetics. 43: e22. PMID 16648375 DOI: 10.1136/Jmg.2005.039867 |
0.361 |
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| 2006 |
Ghai S, Fong KW, Toi A, Chitayat D, Pantazi S, Blaser S. Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development. Radiographics : a Review Publication of the Radiological Society of North America, Inc. 26: 389-405. PMID 16549605 DOI: 10.1148/Rg.262055059 |
0.301 |
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| 2006 |
Kolomietz E, Ben-Omran T, Chitayat D, Mah M, Murphy J, Nie G, Teshima I. Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 141: 214-9. PMID 16526031 DOI: 10.1002/Ajmg.B.30297 |
0.307 |
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| 2006 |
Alkazaleh F, Chaddha V, Viero S, Malik A, Anastasiades C, Sroka H, Chitayat D, Toi A, Windrim RC, Kingdom JC. Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin. American Journal of Obstetrics and Gynecology. 194: 821-827. PMID 16522419 DOI: 10.1016/J.Ajog.2005.09.010 |
0.339 |
|
| 2006 |
Bruyère H, Speevak MD, Winsor EJ, de Fréminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M. Isodicentric Yp: prenatal diagnosis and outcome in 12 cases. Prenatal Diagnosis. 26: 324-9. PMID 16521154 DOI: 10.1002/Pd.1406 |
0.409 |
|
| 2006 |
Simchen MJ, Toi A, Silver M, Smith CR, Hornberger LK, Taylor G, Chitayat D. Fetal cardiac calcifications: report of four prenatally diagnosed cases and review of the literature Ultrasound in Obstetrics & Gynecology. 27: 325-330. PMID 16485251 DOI: 10.1002/Uog.2689 |
0.384 |
|
| 2006 |
Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? American Journal of Medical Genetics. Part A. 140: 594-603. PMID 16470708 DOI: 10.1002/Ajmg.A.31095 |
0.344 |
|
| 2006 |
Bader R, Hornberger LK, Nijmeh LJ, Al-Kazaleh F, Ryan G, Toi A, Viero S, Butany J, Chitayat D. Fetal pericardial teratoma : Presentation of two cases and review of literature American Journal of Perinatology. 23: 53-58. PMID 16450274 DOI: 10.1055/S-2005-923433 |
0.354 |
|
| 2006 |
McAuliffe FM, Chitayat D, Halliday W, Keating S, Shannon P, Shah V, Fink M, Nevo O, Ryan G, Blaser S. OP03.19: Fetal ultrasound and magnetic resonance imaging in rhombencephalosynapsis Ultrasound in Obstetrics & Gynecology. 28: 438-438. DOI: 10.1002/Uog.3126 |
0.345 |
|
| 2006 |
Robinson AJ, Blaser SI, Toi A, Chitayat D, Pantazi S, Halliday W, Ryan G. OP03.13: Sonographic morphology of the fetal fourth ventricle, cerebellar vallecula and Blake's pouch—potential prognosticators in abnormalities of vermian development Ultrasound in Obstetrics & Gynecology. 28: 436-436. DOI: 10.1002/Uog.3120 |
0.307 |
|
| 2005 |
Laskin MD, Kingdom J, Toi A, Chitayat D, Ohlsson A. Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review. Journal of Maternal-Fetal & Neonatal Medicine. 18: 289-298. PMID 16390787 DOI: 10.1080/14767050500329775 |
0.333 |
|
| 2005 |
McAuliffe FM, Fong KW, Toi A, Chitayat D, Keating S, Johnson JA. Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study. American Journal of Obstetrics and Gynecology. 193: 1260-5. PMID 16157148 DOI: 10.1016/J.Ajog.2005.06.075 |
0.371 |
|
| 2005 |
McAuliffe FM, Trines J, Nield LE, Chitayat D, Jaeggi E, Hornberger LK. Early fetal echocardiography--a reliable prenatal diagnosis tool. American Journal of Obstetrics and Gynecology. 193: 1253-1259. PMID 16157147 DOI: 10.1016/J.Ajog.2005.05.086 |
0.364 |
|
| 2005 |
Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Human Mutation. 26: 176-83. PMID 16086360 DOI: 10.1002/Humu.20215 |
0.395 |
|
| 2005 |
Shah PS, Blaser S, Toi A, Fong K, Glanc P, Babul-Hirji R, Rutka J, Chitayat D. Cavum veli interpositi: prenatal diagnosis and postnatal outcome. Prenatal Diagnosis. 25: 539-542. PMID 16034837 DOI: 10.1002/Pd.1114 |
0.347 |
|
| 2005 |
McAuliffe F, Winsor EJT, Chitayat D. Tetrasomy 9p mosaicism associated with a normal phenotype. Fetal Diagnosis and Therapy. 20: 219-222. PMID 15824502 DOI: 10.1159/000083909 |
0.357 |
|
| 2005 |
Kolomietz E, Godbole K, Winsor EJT, Stockley T, Seaward G, Chitayat D. Functional disomy of Xp: prenatal findings and postnatal outcome. American Journal of Medical Genetics Part A. 134: 393-398. PMID 15793841 DOI: 10.1002/Ajmg.A.30652 |
0.316 |
|
| 2005 |
McAuliffe FM, Hornberger LK, Johnson J, Chitayat D, Ryan G. Cardiac diverticulum with pericardial effusion: report of two new cases treated by in-utero pericardiocentesis and a review of the literature. Ultrasound in Obstetrics & Gynecology. 25: 401-404. PMID 15747327 DOI: 10.1002/Uog.1856 |
0.35 |
|
| 2005 |
Johnson JM, Benoit B, Pierre-Louis J, Keating S, Chitayat D. Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound. Ultrasound in Obstetrics & Gynecology. 25: 184-186. PMID 15593363 DOI: 10.1002/Uog.1792 |
0.389 |
|
| 2005 |
Sgro M, Shah V, Barozzino T, Ibach K, Allen L, Chitayat D. False diagnosis of renal agenesis on fetal MRI. Ultrasound in Obstetrics & Gynecology. 25: 197-200. PMID 15543544 DOI: 10.1002/Uog.1739 |
0.319 |
|
| 2005 |
Simchen MJ, Toi A, Silver M, Smith CR, Hornberger LK, Taylor G, Chitayat D. P05.24: Fetal cardiac calcifications: report of four prenatally diagnosed cases Ultrasound in Obstetrics & Gynecology. 26: 415-416. DOI: 10.1002/Uog.2384 |
0.327 |
|
| 2004 |
Fong KW, Ghai S, Toi A, Blaser S, Winsor EJ, Chitayat D. Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 24: 716-23. PMID 15586369 DOI: 10.1002/Uog.1777 |
0.371 |
|
| 2004 |
McAuliffe FM, Hornberger LK, Winsor S, Chitayat D, Chong K, Johnson J. Fetal cardiac defects and increased nuchal translucency thickness: A prospective study American Journal of Obstetrics and Gynecology. 191: 1486-1490. PMID 15507988 DOI: 10.1016/J.Ajog.2004.05.049 |
0.332 |
|
| 2004 |
Patel MS, Taylor GP, Bharya S, Al-Sanna'a N, Adatia I, Chitayat D, Suzanne Lewis ME, Human DG. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. American Journal of Medical Genetics. Part A. 129: 294-9. PMID 15326631 DOI: 10.1002/Ajmg.A.30221 |
0.352 |
|
| 2004 |
Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics. 75: 27-34. PMID 15146390 DOI: 10.1086/422013 |
0.308 |
|
| 2004 |
Sgro M, Rossetti S, Barozzino T, Toi A, Langer J, Harris PC, Harvey E, Chitayat D. Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound in Obstetrics & Gynecology. 23: 73-76. PMID 14971004 DOI: 10.1002/Uog.943 |
0.332 |
|
| 2004 |
Fong KW, Toi A, Salem S, Hornberger LK, Chitayat D, Keating SJ, McAuliffe F, Johnson JA. Detection of fetal structural abnormalities with US during early pregnancy. Radiographics : a Review Publication of the Radiological Society of North America, Inc. 24: 157-74. PMID 14730044 DOI: 10.1148/Rg.241035027 |
0.404 |
|
| 2004 |
Johnson J, Hoffman B, Chitayat D, Winsor E, Pritzker K. First trimester screening (FTS) in the detection of down syndrome American Journal of Obstetrics and Gynecology. 191. DOI: 10.1016/J.Ajog.2004.10.530 |
0.309 |
|
| 2004 |
McAuliffe F, Fong K, Toi A, Chitayat D, Keating S, Johnson J. Ultrasound detection of fetal anomalies in the first trimester in conjunction with nuchal translucency screening: A feasibility study American Journal of Obstetrics and Gynecology. 191. DOI: 10.1016/J.Ajog.2004.10.527 |
0.309 |
|
| 2004 |
Berger H, Slevin J, Keating S, Pantazzi S, Kingdom J, Chitayat D. P14.72: Combined ultrasound and MRI diagnosis in a novel case of sirenomelia with associated upper limb abnormalities Ultrasound in Obstetrics & Gynecology. 24: 365-366. DOI: 10.1002/Uog.1670 |
0.328 |
|
| 2004 |
McAuliffe F, Fong K, Toi A, Chitayat D, Keating S, Johnson J. P14.05: Ultrasound detection of fetal anomalies in the first trimester in conjunction with nuchal translucency screening: a feasibility study Ultrasound in Obstetrics & Gynecology. 24: 349-349. DOI: 10.1002/Uog.1605 |
0.309 |
|
| 2003 |
Skidmore DL, Pai AP, Toi A, Steele L, Chitayat D. Prenatal diagnosis of Apert syndrome: report of two cases. Prenatal Diagnosis. 23: 1009-1013. PMID 14663839 DOI: 10.1002/Pd.744 |
0.417 |
|
| 2003 |
Bader RS, Chitayat D, Kelly E, Ryan G, Smallhorn JF, Toi A, Hornberger LK. Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex The Journal of Pediatrics. 143: 620-624. PMID 14615733 DOI: 10.1067/S0022-3476(03)00494-3 |
0.324 |
|
| 2003 |
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics. Part A. 120: 222-8. PMID 12833403 DOI: 10.1002/Ajmg.A.10265 |
0.406 |
|
| 2003 |
Sharathkumar A, Kirby M, Freedman M, Abdelhaleem M, Chitayat D, Teshima IE, Dror Y. Malignant hematological disorders in children with Wolf-Hirschhorn syndrome. American Journal of Medical Genetics. Part A. 119: 194-9. PMID 12749063 DOI: 10.1002/Ajmg.A.20080 |
0.365 |
|
| 2003 |
Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns J, Steensel MAMV, Vikkula M. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. American Journal of Human Genetics. 72: 1470-1478. PMID 12740761 DOI: 10.1086/375614 |
0.346 |
|
| 2003 |
Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS. Clinical and genetic aspects of trigonocephaly: a study of 25 cases. American Journal of Medical Genetics. Part A. 117: 127-35. PMID 12567409 DOI: 10.1002/Ajmg.A.10021 |
0.401 |
|
| 2003 |
Barrea C, Yoo S, Chitayat D, Valsangiacomo E, Winsor E, Smallhorn JF, Hornberger LK. Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion Prenatal Diagnosis. 23: 9-15. PMID 12533805 DOI: 10.1002/Pd.508 |
0.373 |
|
| 2003 |
Bader RS, Chitayat D, Kelly E, Ryan G, Smallhorn J, Hornberger LK. Fetal rhabdomyoma: Prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex Journal of the American College of Cardiology. 41: 483-484. DOI: 10.1016/S0735-1097(03)82645-1 |
0.306 |
|
| 2003 |
McLeod L, Chitayat D, Thomas M, Johnson JM. P054: The impact of first trimester screening on trends in termination for chromosome abnormalities Ultrasound in Obstetrics & Gynecology. 22: 85-85. DOI: 10.1002/Uog.513 |
0.312 |
|
| 2003 |
Johnson JM, Benoit B, Keating S, Pierre-Louis J, Chitayat D. P045: Early prenatal diagnosis and autopsy findings in oculoauriculofrontonasal syndrome using 3D ultrasound Ultrasound in Obstetrics & Gynecology. 22: 83-83. DOI: 10.1002/Uog.505 |
0.337 |
|
| 2002 |
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. American Journal of Human Genetics. 71: 1033-43. PMID 12369018 DOI: 10.1086/342975 |
0.356 |
|
| 2002 |
Pedra SR, Smallhorn JF, Ryan G, Chitayat D, Taylor GP, Khan R, Abdolell M, Hornberger LK. Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome. Circulation. 106: 585-91. PMID 12147541 DOI: 10.1161/01.Cir.0000023900.58293.Fe |
0.328 |
|
| 2002 |
Waye JS, Nakamura LM, Eng B, Hunnisett L, Chitayat D, Costa T, Nowaczyk MJ. Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. Journal of Medical Genetics. 39: E31. PMID 12070263 DOI: 10.1136/Jmg.39.6.E31 |
0.371 |
|
| 2002 |
Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Human Molecular Genetics. 11: 1317-25. PMID 12019213 DOI: 10.1093/Hmg/11.11.1317 |
0.371 |
|
| 2002 |
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, et al. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 79: 186-96. PMID 11829489 DOI: 10.1006/Geno.2002.6695 |
0.36 |
|
| 2002 |
Koren G, Cohn T, Chitayat D, Kapur B, Remington G, Reid DM, Zipursky RB. Use of atypical antipsychotics during pregnancy and the risk of neural tube defects in infants. The American Journal of Psychiatry. 159: 136-7. PMID 11772703 DOI: 10.1176/Appi.Ajp.159.1.136 |
0.303 |
|
| 2001 |
Simchen MJ, Toi A, Bona M, Alkazaleh F, Ryan G, Chitayat D. Fetal hepatic calcifications: Prenatal diagnosis and outcome American Journal of Obstetrics and Gynecology. 187: 1617-1622. PMID 12501073 DOI: 10.1067/Mob.2002.127899 |
0.364 |
|
| 2001 |
Smith AC, Squire JA, Thorner P, Zielenska M, Shuman C, Grant R, Chitayat D, Nishikawa JL, Weksberg R. Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. Pediatric and Developmental Pathology : the Official Journal of the Society For Pediatric Pathology and the Paediatric Pathology Society. 4: 550-8. PMID 11826361 DOI: 10.1007/S10024001-0110-6 |
0.334 |
|
| 2001 |
Dar P, Javed AA, Ben-Yishay M, Ferreira JC, Paterson AD, Gross SJ, Chitayat D, Morrow BE, Nitowsky HM. Potential mapping of corneal dermoids to Xq24-qter [7] Journal of Medical Genetics. 38: 719-723. PMID 11594343 DOI: 10.1136/Jmg.38.10.719 |
0.368 |
|
| 2001 |
Sobacchi C, Frattini A, Orchard PJ, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis Human Molecular Genetics. 10: 1767-1773. PMID 11532986 DOI: 10.1093/Hmg/10.17.1767 |
0.38 |
|
| 2001 |
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, ... ... Chitayat D, et al. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. American Journal of Human Genetics. 69: 481-92. PMID 11462173 DOI: 10.1086/323123 |
0.374 |
|
| 2001 |
Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics. 74: 370-6. PMID 11414765 DOI: 10.1006/Geno.2001.6549 |
0.398 |
|
| 2001 |
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, et al. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics. 68: 1386-97. PMID 11349230 DOI: 10.1086/320592 |
0.366 |
|
| 2001 |
Johnson JM, Babul‐Hirji R, Chitayat D. First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome Ultrasound in Obstetrics & Gynecology. 17: 344-346. PMID 11339194 DOI: 10.1046/J.1469-0705.2001.00320.X |
0.395 |
|
| 2001 |
Leung WC, Chitayat D, Seaward G, Windrim R, Ryan G, Barrett J, Winsor EJT. Role of amniotic fluid interphase fluorescence in situ hybridization (FISH) analysis in patient management Prenatal Diagnosis. 21: 327-332. PMID 11288128 DOI: 10.1002/Pd.58 |
0.329 |
|
| 2000 |
Abdullah MM, Lacro RV, Smallhorn J, Chitayat D, van der Velde ME, Yoo SJ, Oman-Ganes L, Hornberger LK. Fetal cardiac dextroposition in the absence of an intrathoracic mass: sign of significant right lung hypoplasia. Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 19: 669-76. PMID 11026578 DOI: 10.7863/Jum.2000.19.10.669 |
0.311 |
|
| 2000 |
Chitayat D, Babul-Hirji R. Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities. Current Opinion in Obstetrics & Gynecology. 12: 77-80. PMID 10813567 DOI: 10.1097/00001703-200004000-00004 |
0.36 |
|
| 2000 |
Kennedy D, Silver MM, Winsor EJ, Toi A, Provias J, Macha M, Precht K, Ledbetter DH, Chitayat D. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. American Journal of Medical Genetics. 91: 167-70. PMID 10756335 DOI: 10.1002/(Sici)1096-8628(20000320)91:3<167::Aid-Ajmg1>3.0.Co;2-Z |
0.359 |
|
| 2000 |
von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, Rose T, Hornberger LK. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. American Journal of Medical Genetics. 90: 270-5. PMID 10710222 DOI: 10.1002/(Sici)1096-8628(20000214)90:4<270::Aid-Ajmg2>3.0.Co;2-R |
0.367 |
|
| 1999 |
Arab S, Chitayat D, Gardner HA, Winsor EJ. Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22). Clinical Genetics. 56: 362-6. PMID 10668926 DOI: 10.1034/J.1399-0004.1999.560504.X |
0.314 |
|
| 1999 |
Sgro M, Barozzino T, Toi A, Johnson J, Sermer M, Chitayat D. Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis. Ultrasound in Obstetrics & Gynecology. 14: 356-359. PMID 10623997 DOI: 10.1046/J.1469-0705.1999.14050356.X |
0.304 |
|
| 1999 |
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Human Molecular Genetics. 8: 2311-6. PMID 10545612 DOI: 10.1093/Hmg/8.12.2311 |
0.345 |
|
| 1999 |
Patel MS, Callahan JW, Zhang S, Chan AK, Unger S, Levin AV, Skomorowski MA, Feigenbaum AS, O'Brien K, Hellmann J, Ryan G, Velsher L, Chitayat D. Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. American Journal of Medical Genetics. 85: 38-47. PMID 10377011 DOI: 10.1002/(Sici)1096-8628(19990702)85:1<38::Aid-Ajmg8>3.0.Co;2-3 |
0.377 |
|
| 1999 |
Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D. Compound heterozygosity for the achondroplasia‐hypochondroplasia FGFR3 mutations: Prenatal diagnosis and postnatal outcome American Journal of Medical Genetics. 84: 401-405. PMID 10360393 DOI: 10.1002/(Sici)1096-8628(19990611)84:5<401::Aid-Ajmg3>3.0.Co;2-C |
0.41 |
|
| 1999 |
Friedman S, Ford-Jones LE, Toi A, Ryan G, Blaser S, Chitayat D. Congenital toxoplasmosis: prenatal diagnosis, treatment and postnatal outcome. Prenatal Diagnosis. 19: 330-333. PMID 10327137 DOI: 10.1002/(Sici)1097-0223(199904)19:4<330::Aid-Pd549>3.0.Co;2-V |
0.367 |
|
| 1999 |
Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nature Genetics. 21: 302-4. PMID 10080184 DOI: 10.1038/6821 |
0.357 |
|
| 1998 |
Hamilton J, Chitayat D, Blaser S, Cohen LE, Phillips JA, Daneman D. Familial growth hormone deficiency associated with MRI abnormalities American Journal of Medical Genetics. 80: 128-132. PMID 9805128 DOI: 10.1002/(Sici)1096-8628(19981102)80:2<128::Aid-Ajmg7>3.0.Co;2-C |
0.363 |
|
| 1998 |
Vajsar J, Chitayat D, Becker LE, Ho M, Ben-Zeev B, Jay V. Severe classical congenital muscular dystrophy and merosin expression. Clinical Genetics. 54: 193-8. PMID 9788720 DOI: 10.1111/J.1399-0004.1998.Tb04283.X |
0.366 |
|
| 1998 |
Harrison KJ, Teshima IE, Silver MM, Jay V, Unger S, Robinson WP, James A, Levin A, Chitayat D. Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies. American Journal of Medical Genetics. 79: 103-7. PMID 9741467 DOI: 10.1002/(Sici)1096-8628(19980901)79:2<103::Aid-Ajmg5>3.0.Co;2-R |
0.302 |
|
| 1998 |
Rahmani R, Dixon M, Chitayat D, Korb E, Silver M, Barozzino T, Toi A. Otocephaly: prenatal sonographic diagnosis. Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine. 17: 595-8. PMID 9733181 DOI: 10.7863/Jum.1998.17.9.595 |
0.305 |
|
| 1998 |
Park ES, Putnam EA, Chitayat D, Child A, Milewicz DM. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. American Journal of Medical Genetics. 78: 350-5. PMID 9714438 DOI: 10.1002/(Sici)1096-8628(19980724)78:4<350::Aid-Ajmg9>3.0.Co;2-P |
0.351 |
|
| 1998 |
Toka HR, Bahring S, Chitayat D, Melby JC, Whitehead R, Jeschke E, Wienker TF, Toka O, Schuster H, Luft FC. Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension. Annals of Internal Medicine. 129: 204-208. PMID 9696728 DOI: 10.7326/0003-4819-129-3-199808010-00008 |
0.332 |
|
| 1998 |
Hung NA, Silver MM, Chitayat D, Provias J, Toi A, Jay V, Becker LE. Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome. Pediatric and Developmental Pathology : the Official Journal of the Society For Pediatric Pathology and the Paediatric Pathology Society. 1: 393-404. PMID 9688764 DOI: 10.1007/S100249900054 |
0.358 |
|
| 1998 |
Barozzino T, Sgro M, Toi A, Akouri H, Wilson S, Yeo E, Blaser S, Chitayat D. Fetal bilateral subdural haemorrhages. Prenatal diagnosis and spontaneous resolution by time of delivery Prenatal Diagnosis. 18: 496-503. PMID 9621385 DOI: 10.1002/(Sici)1097-0223(199805)18:5<496::Aid-Pd285>3.0.Co;2-N |
0.382 |
|
| 1998 |
Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. American Journal of Medical Genetics. 77: 219-224. PMID 9605588 DOI: 10.1002/(Sici)1096-8628(19980518)77:3<219::Aid-Ajmg6>3.0.Co;2-K |
0.422 |
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| 1998 |
Kennedy D, Chitayat D, Winsor EJT, Silver M, Toi A. Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. American Journal of Medical Genetics. 77: 317-321. PMID 9600743 DOI: 10.1002/(Sici)1096-8628(19980526)77:4<317::Aid-Ajmg13>3.0.Co;2-L |
0.359 |
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| 1998 |
Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, et al. DAX1 mutations map to putative structural domains in a deduced three-dimensional model. American Journal of Human Genetics. 62: 855-64. PMID 9529340 DOI: 10.1086/301782 |
0.313 |
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| 1998 |
Macmillan C, Kirkham T, Fu K, Allison V, Andermann E, Chitayat D, Fortier D, Gans M, Hare H, Quercia N, Zackon D, Shoubridge EA. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. Neurology. 50: 417-22. PMID 9484365 DOI: 10.1212/Wnl.50.2.417 |
0.314 |
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| 1998 |
Quercia N, Chitayat D, Babul-Hirji R, New MI, Daneman D. Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis Prenatal Diagnosis. 18: 83-85. PMID 9483646 DOI: 10.1002/(Sici)1097-0223(199801)18:1<83::Aid-Pd219>3.0.Co;2-U |
0.347 |
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| 1998 |
Chitayat D, Grisaru-Granovsky S, Ryan G, Toi A, Filler R, Seaward GR, Siegel-Bartelt J, Cytrynbaum C. Familial ileal perforation: Prenatal diagnosis and postnatal follow-up Prenatal Diagnosis. 18: 78-82. PMID 9483645 DOI: 10.1002/(Sici)1097-0223(199801)18:1<78::Aid-Pd218>3.0.Co;2-V |
0.376 |
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| 1998 |
Vits L, Chitayat D, Camp Gv, Holden JJA, Fransen E, Willems PJ. Evidence for somatic and germline mosaicism in CRASH syndrome Human Mutation. 11: 284-287. PMID 9452110 DOI: 10.1002/Humu.1380110189 |
0.342 |
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| 1997 |
Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong C, Silver MM, Saller DN, Bresnick GH, Giedion A, Lachman RS, Rimoin DL. Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. American Journal of Medical Genetics. 73: 279-285. PMID 9415685 DOI: 10.1002/(Sici)1096-8628(19971219)73:3<279::Aid-Ajmg10>3.0.Co;2-G |
0.317 |
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| 1997 |
Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix Human Genetics. 101: 165-169. PMID 9402962 DOI: 10.1007/S004390050607 |
0.322 |
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| 1997 |
Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nature Genetics. 17: 18-9. PMID 9288091 DOI: 10.1038/Ng0997-18 |
0.302 |
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| 1997 |
Al-Ghamdi MA, Polomeno RC, Chitayat D, Azouz EM, Teebi AS. Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: A new syndrome? American Journal of Medical Genetics. 71: 401-405. PMID 9286445 DOI: 10.1002/(Sici)1096-8628(19970905)71:4<401::Aid-Ajmg6>3.0.Co;2-W |
0.4 |
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| 1997 |
Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Human Mutation. 10: 171-4. PMID 9259202 DOI: 10.1002/(Sici)1098-1004(1997)10:2<171::Aid-Humu11>3.0.Co;2-X |
0.304 |
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| 1997 |
Chitayat D, Toi A, Babul R, Blaser S, Moola S, Yarkoni D, Sermer M, Johnson J, Vasjar J, Teshima I. Omphalocele in Miller-Dieker syndrome: expanding the phenotype. American Journal of Medical Genetics. 69: 293-298. PMID 9096760 DOI: 10.1002/(Sici)1096-8628(19970331)69:3<293::Aid-Ajmg15>3.0.Co;2-M |
0.395 |
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| 1997 |
Chitayat D, Silver MM, O'Brien K, Wyatt P, Waye JS, Chiu DHK, Babul R, Thomas M. Limb defects in homozygous α‐thalassemia: Report of three cases American Journal of Medical Genetics. 68: 162-167. PMID 9028451 DOI: 10.1002/(Sici)1096-8628(19970120)68:2<162::Aid-Ajmg8>3.0.Co;2-R |
0.346 |
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| 1997 |
Challis D, Trudinger B, Moore L, Kennedy D, Ryan G, Toi A, Seaward G, Chitayat D. Intra-abdominal varix of the umbilical vein—Is it an indication for fetal karyotyping? American Journal of Obstetrics and Gynecology. 176. DOI: 10.1016/S0002-9378(97)80376-6 |
0.323 |
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| 1996 |
Moore L, Toi A, Chitayat D. Abnormalities of the intra‐abdominal fetal umbilical vein: reports of four cases and a review of the literature Ultrasound in Obstetrics & Gynecology. 7: 21-25. PMID 8932627 DOI: 10.1046/J.1469-0705.1996.07010021.X |
0.342 |
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| 1996 |
Lopes-Cendes I, Silveira I, Maciel P, Gaspar C, Radvany J, Chitayat D, Babul R, Stewart J, Dolliver M, Robitaille Y, Rouleau GA, Sequeiros J. Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease. Archives of Neurology. 53: 1168-74. PMID 8912491 DOI: 10.1001/Archneur.1996.00550110120020 |
0.33 |
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| 1996 |
Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes. American Journal of Medical Genetics. 62: 217-23. PMID 8882776 DOI: 10.1002/(Sici)1096-8628(19960329)62:3<216::Aid-Ajmg3>3.0.Co;2-R |
0.313 |
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| 1996 |
Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, Becker LE. Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)]. American Journal of Medical Genetics. 61: 45-8. PMID 8741917 DOI: 10.1002/(Sici)1096-8628(19960102)61:1<45::Aid-Ajmg9>3.0.Co;2-W |
0.316 |
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| 1996 |
Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJM. The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy American Journal of Medical Genetics - Seminars in Medical Genetics. 62: 404-409. PMID 8723072 DOI: 10.1002/(Sici)1096-8628(19960424)62:4<404::Aid-Ajmg14>3.0.Co;2-S |
0.318 |
|
| 1996 |
Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, ... ... Chitayat D, et al. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology. 46: 214-8. PMID 8559378 DOI: 10.1212/Wnl.46.1.214 |
0.354 |
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| 1995 |
Barret J, Chitayat D, Sermer M, Amankwah K, Morrow R, Toi A, Ryan G. The prognostic factors in the prenatal diagnosis of the echogenic fetal lung. Prenatal Diagnosis. 15: 849-53. PMID 8559756 DOI: 10.1002/Pd.1970150910 |
0.337 |
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| 1995 |
Chitayat D, Ruvalcaba RHA, Babul R, Teshima IE, Posnick JC, Vekemans MJJ, Scarpelli H, Thuline H. Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature. American Journal of Medical Genetics. 55: 147-154. PMID 7717413 DOI: 10.1002/Ajmg.1320550203 |
0.38 |
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| 1995 |
Chitayat D, Ohel G, Marion R, Einarson TR. Spectrophotometry of amniotic fluid: a simple and rapid method for distinguishing between gestational sacs in second-trimester amniocentesis of twin pregnancies Obstetrics and Gynecology. 86: 569-571. PMID 7675381 DOI: 10.1016/S0029-7844(95)80018-2 |
0.304 |
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| 1995 |
Chitayat D, Toi A, Babul R, Levin A, Michaud J, Summers A, Rutka J, Blaser S, Becker LE. Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. American Journal of Medical Genetics. 56: 351-8. PMID 7604843 DOI: 10.1002/Ajmg.1320560403 |
0.365 |
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| 1994 |
Pandit PB, Chitayat D, Jefferies AL, Landes A, Qamar IU, Koren G. Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine. Reproductive Toxicology (Elmsford, N.Y.). 8: 89-92. PMID 8186630 DOI: 10.1016/0890-6238(94)90072-8 |
0.338 |
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| 1994 |
Chitayat D, Moore L, Del Bigio MR, MacGregor D, Ben-Zeev B, Hodgkinson K, Deck J, Stothers T, Ritchie S, Toi A. Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome? American Journal of Medical Genetics. 52: 406-15. PMID 7538262 DOI: 10.1002/Ajmg.1320520404 |
0.389 |
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| 1994 |
Hain RDW, Chitayat D, Cooper R, Bandler E, Eng B, Chui DHK, Waye JS, Freedman MH. Hb FM‐Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing Human Mutation. 3: 239-242. PMID 7517266 DOI: 10.1002/Humu.1380030310 |
0.319 |
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| 1993 |
Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. American Journal of Medical Genetics. 47: 272-277. PMID 8213919 DOI: 10.1002/Ajmg.1320470226 |
0.329 |
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| 1992 |
Chitayat D, Meagher-Villemure K, Mamer OA, O'Gorman A, Hoar DI, Silver K, Scriver CR. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria. The Journal of Pediatrics. 121: 86-9. PMID 1625099 DOI: 10.1016/S0022-3476(05)82549-1 |
0.301 |
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| 1992 |
Wilson RD, Chitayat D, McGillivray BC. Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study. American Journal of Medical Genetics. 44: 586-590. PMID 1481814 DOI: 10.1002/Ajmg.1320440511 |
0.403 |
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| 1989 |
Chitayat D, Fagerstrom CL, Kalousek DK, Rootman J, Taylor GP, Hall JG, Opitz JM, Reynolds JF. De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome. American Journal of Medical Genetics. 32: 36-41. PMID 2495721 DOI: 10.1002/Ajmg.1320320109 |
0.339 |
|
| 1988 |
Marion RW, Chitayat D, Hutcheon RG, Neidich JA, Zackai EH, Singer LP, Warman M. Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. The Journal of Pediatrics. 113: 45-8. PMID 3385528 DOI: 10.1016/S0022-3476(88)80526-2 |
0.314 |
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| 1985 |
Chitayat D, Furman N, Milbauer B, Legum C. 807 CEREBELLAR AGENESIS AND HEMIFACIAL MICROSOMIA IN AN INFANT WITH 22q PARTIAL TRISOMY SYNDROME Pediatric Research. 19: 245-245. DOI: 10.1203/00006450-198504000-00837 |
0.314 |
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