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IGNATIA VAN DEN VEYVER

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Obstetrics & Gynecology
Address1250 MOURSUND STREET
Houston, TX 77030
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics


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    T32GM136554     (SMITH, CAROLYN LOUISE;VAN DEN VEYVER, IGNATIA B)Jul 1, 2020 - Jun 30, 2025
    NIH
    The Clinical Translational Research Certificate of Added Qualification Program
    Role: Principal Investigator
    R01HD092746     (VAN DEN VEYVER, IGNATIA B)Aug 15, 2018 - May 31, 2024
    NIH
    Characterization of the role of maternal effect gene Nlrp2 in reproduction
    Role: Principal Investigator
    R01HD079442     (VAN DEN VEYVER, IGNATIA B)Mar 1, 2015 - Feb 28, 2021
    NIH
    The Role of NLRP7 and KHDC3L in Germline Imprinting and Embryonic Reprogramming
    Role: Principal Investigator
    T32GM088129     (VAN DEN VEYVER, IGNATIA B)Jul 1, 2010 - Jun 30, 2020
    NIH
    Training Program in Translational Biology and Molecular Medicine
    Role: Principal Investigator
    R21HD058081     (VAN DEN VEYVER, IGNATIA B)Jun 24, 2008 - May 31, 2011
    NIH
    The role of NLRP7 and related genes in hydatidiform moles and reproductive failur
    Role: Principal Investigator
    R01HD055651     (CHUNG, WENDY K;CLIFTON, REBECCA GERSNOVIEZ;VAN DEN VEYVER, IGNATIA B;WAPNER, RONALD)Jun 8, 2007 - Aug 31, 2023
    NIH
    Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation
    Role: Co-Principal Investigator
    R21HD051805     (VAN DEN VEYVER, IGNATIA B)Mar 1, 2007 - Feb 28, 2009
    NIH
    New strategies to identify the gene mutated in Aicardi syndrome
    Role: Principal Investigator
    R01HD045970     (VAN DEN VEYVER, IGNATIA B)Dec 6, 2004 - Nov 30, 2010
    NIH
    Genetic Studies in Gestational Trophoblastic Disease
    Role: Principal Investigator
    R21ES012320     (VAN DEN VEYVER, IGNATIA B)Jun 2, 2003 - Feb 28, 2007
    NIH
    Do Diet and DNA Methylation Affect Fetal Programming?
    Role: Principal Investigator
    P01HD040301     (ZOGHBI, HUDA Y)Jul 23, 2001 - May 31, 2007
    NIH
    Pathophysiology of Rett Syndrome /MECP2 Mutations
    Role: Co-Principal Investigator
    K08HD001171     (VAN DEN VEYVER, IGNATIA B)Mar 6, 1997 - Feb 28, 2002
    NIH
    FUNCTIONAL ANALYSIS OF CANDIDATE GENES FOR MLS SYNDROME
    Role: Principal Investigator
    P30HD024064     (ZOGHBI, HUDA Y)Aug 1, 1988 - Dec 30, 2014
    NIH
    Baylor Intellectual and Developmental Disabilities Research Center
    Role: Co-Principal Investigator

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    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D, Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Lethal phenotypes in Mendelian disorders. medRxiv. 2024 Jan 13. PMID: 38260283; PMCID: PMC10802756.
      Citations:    
    2. Anvar Z, Chakchouk I, Sharif M, Mahadevan S, Su L, Anikar S, Naini FA, Utama AB, Van den Veyver IB. Comparison of Four Protocols for In Vitro Differentiation of Human Embryonic Stem Cells into Trophoblast Lineages by BMP4 and Dual Inhibition of Activin/Nodal and FGF2 Signaling. Reprod Sci. 2024 Jan; 31(1):173-189. PMID: 37658178; PMCID: PMC10784360.
      Citations:    Fields:    Translation:HumansCells
    3. Maktabi MA, Vossaert L, Van den Veyver IB. Cell-based Noninvasive Prenatal Testing (cbNIPT)-A Review on the Current Developments and Future Prospects. Clin Obstet Gynecol. 2023 09 01; 66(3):636-648. PMID: 37650673; PMCID: PMC10491429.
      Citations:    Fields:    Translation:Humans
    4. Zemet R, Krispin E, Johnson RM, Kumar NR, Stover S, Nassr AA, Donepudi R, Espinoza J, Whitehead WE, Belfort MA, Shamshirsaz AA, Van den Veyver IB, Westerfield LE, Mann DG, Castillo J, Castillo HA, Sanz Cortes M. Implication of chromosomal microarray analysis prior to in-utero repair of fetal open neural tube defect. Ultrasound Obstet Gynecol. 2023 06; 61(6):719-727. PMID: 36610024; PMCID: PMC10238557.
      Citations:    Fields:    Translation:Humans
    5. Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188. PMID: 37124138; PMCID: PMC10130500.
      Citations:    Translation:Humans
    6. Anvar Z, Chakchouk I, Sharif M, Mahadevan S, Nasiotis ET, Su L, Liu Z, Wan YW, Van den Veyver IB. Loss of the Maternal Effect Gene Nlrp2 Alters the Transcriptome of Ovulated Mouse Oocytes and Impacts Expression of Histone Demethylase KDM1B. Reprod Sci. 2023 09; 30(9):2780-2793. PMID: 36976514; PMCID: PMC10524210.
      Citations:    Fields:    Translation:AnimalsCells
    7. Sakyu T, Stover SR, Wang Y, Ward P, Gandhi M, Braun MC, Van den Veyver IB, Bi W. Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. Clin Case Rep. 2023 Feb; 11(2):e6692. PMID: 36846174; PMCID: PMC9950036.
      Citations:    
    8. Bedei I, Gehrke T, Meyer-Wittkopf M, Willner D, Scharf A, Heling KS, Trautmann K, Jahns KM, Wilhelm L, Graf A, Wolter A, Schenk J, Weber A, Axt-Fliedner R, Gloning KP, Krapp M, Degenhardt J, Kozlowski P, Geipel A, Baum?ller JE, Gottschalk I, Schr?er A, Van den Veyver IB. Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants. Prenat Diagn. 2023 02; 43(2):192-206. PMID: 36726284.
      Citations: 1     Fields:    Translation:HumansCells
    9. Sharif M, Detti L, Van den Veyver IB. Take your mother's ferry: preimplantation embryo development requires maternal karyopherins for nuclear transport. J Clin Invest. 2023 01 17; 133(2). PMID: 36647833; PMCID: PMC9843045.
      Citations:    Fields:    Translation:HumansAnimalsCells
    10. Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC, Fetal Sequencing Consortium. Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. Prenat Diagn. 2022 12; 42(13):1686-1693. PMID: 36403095; PMCID: PMC9805891.
      Citations:    Fields:    Translation:Humans
    11. Chitty LS, Van den Veyver IB. Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis. Prenat Diagn. 2022 11; 42(12):1479-1480. PMID: 36281059.
      Citations:    Fields:    Translation:Humans
    12. Van den Veyver IB, Yaron Y, Deans ZC. International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients. Prenat Diagn. 2023 04; 43(4):428-434. PMID: 36221164; PMCID: PMC10108654.
      Citations:    Fields:    Translation:Humans
    13. Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Mu?oz-Fuentes V, Hsu CW, Van den Veyver IB, Flenniken AM, McKerlie C, Murray SA, Teboul L, Heaney JD, Lloyd KCK, Lanoue L, Braun RE, White JK, Creighton AK, Laurin V, Guo R, Qu D, Wells S, Cleak J, Bunton-Stasyshyn R, Stewart M, Harrisson J, Mason J, Haseli Mashhadi H, Parkinson H, Mallon AM, International Mouse Phenotyping Consortium, Genomics England Research Consortium, Smedley D. Mendelian gene identification through mouse embryo viability screening. Genome Med. 2022 10 13; 14(1):119. PMID: 36229886; PMCID: PMC9563108.
      Citations: 2     Fields:    Translation:HumansAnimals
    14. Madala D, Maktabi MA, Sabbagh R, Erfani H, Moon A, Van den Veyver IB. Lower fetal fraction in clinical cell-free DNA screening results is associated with increased risk of hypertensive disorders of pregnancy. Prenat Diagn. 2022 09; 42(10):1253-1261. PMID: 35943975; PMCID: PMC9655187.
      Citations:    
    15. Johnson K, Erfani H, Maktabi MA, Van den Veyver I, Nassef S. Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis. J Genet Couns. 2022 12; 31(6):1330-1340. PMID: 35799470; PMCID: PMC10022483.
      Citations:    Fields:    
    16. Crovetti B, Maktabi MA, Erfani H, Panchalee T, Wang Q, Vossaert L, Van den Veyver I. Circulating trophoblast numbers as a potential marker for pregnancy complications. Prenat Diagn. 2022 08; 42(9):1182-1189. PMID: 35765264; PMCID: PMC9710861.
      Citations:    Fields:    
    17. Pereira S, Carmi S, Altarescu G, Austin J, Barlevy D, Hershlag A, Juengst E, Kostick-Quenet K, Kovanci E, Lathi RB, Mukherjee M, Van den Veyver I, Zuk O, Lencz T, L?zaro-Mu?oz G. Polygenic embryo screening: four clinical considerations warrant further attention. Hum Reprod. 2022 06 30; 37(7):1375-1378. PMID: 35604365; PMCID: PMC9247413.
      Citations:    Fields:    Translation:HumansPHPublic Health
    18. Kernie CG, Wynn J, Rosenbaum A, de Voest J, Galloway S, Giordano J, Stover S, Westerfield L, Gilmore K, Wapner RJ, Van den Veyver IB, Vora NL, Clifton RG, Caughey AB, Chung WK. Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenat Diagn. 2022 06; 42(7):947-954. PMID: 35476893.
      Citations:    Fields:    Translation:Humans
    19. Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS, ISPD Board of Directors. International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. Prenat Diagn. 2022 05; 42(6):796-803. PMID: 35583085.
      Citations:    Fields:    Translation:Humans
    20. Van den Veyver IB. Prenatal exomes and genomes - so much new and so much more to learn. Prenat Diagn. 2022 05; 42(6):659-661. PMID: 35583086.
      Citations:    Fields:    Translation:Humans
    21. Zemet R, Van den Veyver IB, Stankiewicz P. Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges. Prenat Diagn. 2022 06; 42(7):811-821. PMID: 35394072; PMCID: PMC9995893.
      Citations:    Fields:    Translation:Humans
    22. Anvar Z, Chakchouk I, Demond H, Sharif M, Kelsey G, Van den Veyver IB. DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting. Genes (Basel). 2021 08 06; 12(8). PMID: 34440388; PMCID: PMC8394515.
      Citations: 5     Fields:    Translation:HumansCells
    23. Van den Veyver IB. Improving the prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn. 2021 06; 41(7):795-797. PMID: 34008861.
      Citations:    Fields:    Translation:Humans
    24. Chakchouk I, Vossaert L, Zemet R, Van den Veyver IB. Overview and recent developments in cell-based noninvasive prenatal testing. Prenat Diagn. 2021 Sep; 41(10):1202-1214. PMID: 33974713; PMCID: PMC9355411.
      Citations:    Fields:    Translation:HumansCells
    25. Zhuo X, Wang Q, Vossaert L, Salman R, Kim A, Van den Veyver I, Breman A, Beaudet A. Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT. PLoS One. 2021; 16(4):e0249695. PMID: 33857205; PMCID: PMC8049273.
      Citations:    Fields:    Translation:HumansCells
    26. Arian S, Rubin J, Chakchouk I, Sharif M, Mahadevan SK, Erfani H, Shelly K, Liao L, Lorenzo I, Ramakrishnan R, Van den Veyver IB. Reproductive Outcomes from Maternal Loss of Nlrp2 Are Not Improved by IVF or Embryo Transfer Consistent with Oocyte-Specific Defect. Reprod Sci. 2021 07; 28(7):1850-1865. PMID: 33090377; PMCID: PMC8060370.
      Citations: 1     Fields:    Translation:AnimalsCells
    27. Panchalee T, Vossaert L, Wang Q, Crovetti BR, McCombs AK, Wapner RJ, Van den Veyver IB, Beaudet AL. The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing. Prenat Diagn. 2020 10; 40(11):1383-1389. PMID: 32452065; PMCID: PMC7688572.
      Citations:    Fields:    Translation:HumansCells
    28. Arian SE, Erfani H, Westerfield LE, Buffie A, Nassef S, Gibbons WE, Van den Veyver IB. Prenatal testing in pregnancies conceived by in vitro fertilization with pre-implantation genetic testing. Prenat Diagn. 2020 06; 40(7):846-851. PMID: 32297346.
      Citations: 1     Fields:    Translation:Humans
    29. Amor DJ, Chitty LS, Van den Veyver IB. Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing. Prenat Diagn. 2020 12; 40(12):1508-1514. PMID: 32091628.
      Citations: 4     Fields:    Translation:Humans
    30. Vossaert L, Wang Q, Salman R, McCombs AK, Patel V, Qu C, Mancini MA, Edwards DP, Malovannaya A, Liu P, Shaw CA, Levy B, Wapner RJ, Bi W, Breman AM, Van den Veyver IB, Beaudet AL. Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. Am J Hum Genet. 2019 12 05; 105(6):1262-1273. PMID: 31785788; PMCID: PMC6904821.
      Citations: 17     Fields:    Translation:HumansCells
    31. Sabbagh R, Van den Veyver IB. The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet. 2020 Sep; 139(9):1121-1130. PMID: 31754893; PMCID: PMC7239720.
      Citations: 4     Fields:    Translation:Humans
    32. Wong BKY, Murry JB, Ramakrishnan R, He F, Balasa A, Stinnett GR, Pedersen SE, Pautler RG, Van den Veyver IB. Maternal stress in Shank3ex4-9 mice increases pup-directed care and alters brain white matter in male offspring. PLoS One. 2019; 14(11):e0224876. PMID: 31703095; PMCID: PMC6839842.
      Citations:    Fields:    Translation:AnimalsPHPublic Health
    33. Van den Veyver IB. Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review. Prenat Diagn. 2019 08; 39(9):666-678. PMID: 31353536.
      Citations: 7     Fields:    Translation:Humans
    34. Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR, Santer R, Wilichowski E, Wortmann SB. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. PMID: 31256877; PMCID: PMC6698803.
      Citations: 16     Fields:    Translation:Humans
    35. Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Apr; 25(4):701-702. PMID: 30787481.
      Citations: 3     Fields:    
    36. Larsen D, Ma J, Strassberg M, Ramakrishnan R, Van den Veyver IB. The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling. Prenat Diagn. 2019 03; 39(4):319-323. PMID: 30731021.
      Citations: 2     Fields:    Translation:HumansPHPublic Health
    37. Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447. PMID: 30692697.
      Citations: 52     Fields:    Translation:Humans
    38. Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D, Seubert R, Chow J, U'ren L, Enright B, Stilwell J, Kaldjian E, Yang Y, Shaw C, Levy B, Wapner R, Breman A, Van den Veyver I, Beaudet A. Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenat Diagn. 2018 12; 38(13):1069-1078. PMID: 30357877; PMCID: PMC6587831.
      Citations: 21     Fields:    Translation:HumansCells
    39. Bagga R, Sahin FI, Mahadevan S, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Osmond M, Breguet M, Rahimi K, Lapensee L, Ao A, Majewski J, Taketo T, Slim R. Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. Am J Hum Genet. 2018 11 01; 103(5):740-751. PMID: 30388401; PMCID: PMC6218808.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    40. Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, Wang X, Xiao R, Liu P, Bi W, Xia F, Walkiewicz M, Van den Veyver IB, Eng CM, Yang Y. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74. PMID: 30266093; PMCID: PMC6162951.
      Citations: 27     Fields:    Translation:Humans
    41. Gu S, Jernegan M, Van den Veyver IB, Peacock S, Smith J, Breman A. Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions. Prenat Diagn. 2018 10; 38(11):858-865. PMID: 30094853.
      Citations: 3     Fields:    Translation:Humans
    42. Crossland RF, Balasa A, Ramakrishnan R, Mahadevan SK, Fiorotto ML, Van den Veyver IB. Correction: Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring. PLoS One. 2018; 13(7):e0201079. PMID: 30016362; PMCID: PMC6049931.
      Citations: 1     Fields:    
    43. Normand EA, Alaimo JT, Van den Veyver IB. Exome and genome sequencing in reproductive medicine. Fertil Steril. 2018 02; 109(2):213-220. PMID: 29395096.
      Citations: 7     Fields:    Translation:Humans
    44. Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017 12; 217(6):691.e1-691.e6. PMID: 29032050.
      Citations: 36     Fields:    Translation:HumansCells
    45. Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018 01; 38(1):10-19. PMID: 28654730; PMCID: PMC5745303.
      Citations: 67     Fields:    Translation:Humans
    46. Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Mol Genet Metab Rep. 2017 Sep; 12:57-61. PMID: 28626639; PMCID: PMC5466597.
      Citations: 2     
    47. McClatchey T, Lay E, Strassberg M, Van den Veyver IB. Missed opportunities: unidentified genetic risk factors in prenatal care. Prenat Diagn. 2018 01; 38(1):75-79. PMID: 28384392.
      Citations: 1     Fields:    Translation:Humans
    48. Mahadevan S, Sathappan V, Utama B, Lorenzo I, Kaskar K, Van den Veyver IB. Erratum: Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming. Sci Rep. 2017 04 19; 7:46434. PMID: 28422141; PMCID: PMC5395947.
      Citations:    Fields:    
    49. Mahadevan S, Sathappan V, Utama B, Lorenzo I, Kaskar K, Van den Veyver IB. Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming. Sci Rep. 2017 03 20; 7:44667. PMID: 28317850; PMCID: PMC5357799.
      Citations: 26     Fields:    Translation:AnimalsCells
    50. Wong BK, Sutton VR, Lewis RA, Van den Veyver IB. Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. Mol Genet Genomic Med. 2017 Mar; 5(2):117-121. PMID: 28361097; PMCID: PMC5370232.
      Citations: 2     Fields:    
    51. Crossland RF, Balasa A, Ramakrishnan R, Mahadevan SK, Fiorotto ML, Van den Veyver IB. Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring. PLoS One. 2017; 12(1):e0170127. PMID: 28099477; PMCID: PMC5242516.
      Citations: 9     Fields:    Translation:Animals
    52. Mack LM, Lee W, Mastrobattista JM, Belfort MA, Van den Veyver IB, Shamshirsaz AA, Ruano R, Sanz Cortes M, Espinoza A, Thiam Diouf A, Espinoza J. Are First Trimester Nuchal Septations Independent Risk Factors for Chromosomal Anomalies? J Ultrasound Med. 2017 Jan; 36(1):155-161. PMID: 27925703.
      Citations: 2     Fields:    Translation:Humans
    53. Singh R, Normand EA, Qdaisat S, van den Veyver IB, Jackson L, Hatt L, Schelde P, Uldbjerg N, Vestergaard EM, Zhao L, Chen R, Shaw CA, Breman AM, Beaudet AL, K?lvraa S. Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenat Diagn. 2016 Dec; 36(12):1127-1134. PMID: 27761919.
      Citations: 29     Fields:    Translation:Humans
    54. Van den Veyver IB. Recent advances in prenatal genetic screening and testing. F1000Res. 2016; 5:2591. PMID: 27853526; PMCID: PMC5089140.
      Citations: 11     Fields:    
    55. Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, Werbin JL, Seubert RC, Van den Veyver IB, Stilwell JL, Kaldjian EP, Beaudet AL. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Nov; 36(11):1009-1019. PMID: 27616633; PMCID: PMC5129580.
      Citations: 26     Fields:    Translation:HumansCellsCTClinical Trials
    56. Normand E, Qdaisat S, Bi W, Shaw C, Van den Veyver I, Beaudet A, Breman A. Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn. 2016 Sep; 36(9):823-30. PMID: 27368744.
      Citations: 10     Fields:    Translation:HumansCells
    57. Richards EG, Sangi-Haghpeykar H, McGuire AL, Van den Veyver IB, Fruhman G. Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: ultrasound versus advanced genetic testing. Prenat Diagn. 2015 Dec; 35(12):1213-7. PMID: 26287960.
      Citations: 3     Fields:    Translation:Humans
    58. Westerfield LE, Stover SR, Mathur VS, Nassef SA, Carter TG, Yang Y, Eng CM, Van den Veyver IB. Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn. 2015 Oct; 35(10):1022-9. PMID: 26275793.
      Citations: 17     Fields:    Translation:Humans
    59. van den Veyver IB, Eng CM. Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Aug 07; 5(10). PMID: 26253094; PMCID: PMC4588135.
      Citations: 15     Fields:    Translation:Humans
    60. Yagel S, Cohen SM, Benacerraf BR, Cuckle H, Kagan KO, Van den Veyver I, Wapner R, Lee W. Noninvasive prenatal testing and fetal sonographic screening: roundtable discussion. J Ultrasound Med. 2015 Mar; 34(3):363-9. PMID: 25715356.
      Citations: 1     Fields:    Translation:Humans
    61. Murry JB, Santos XM, Wang X, Wan YW, Van den Veyver IB, Dietrich JE. A genome-wide screen for copy number alterations in an adolescent pilot cohort with m?llerian anomalies. Fertil Steril. 2015 Feb; 103(2):487-93. PMID: 25492685; PMCID: PMC4476902.
      Citations: 1     Fields:    Translation:Humans
    62. Ross J, Busch J, Mintz E, Ng D, Stanley A, Brafman D, Sutton VR, Van den Veyver I, Willert K. A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells. Cell Rep. 2014 Dec 11; 9(5):1770-1780. PMID: 25464842; PMCID: PMC4335800.
      Citations: 15     Fields:    Translation:HumansCells
    63. Aghajanova L, Mahadevan S, Stavreus-Evers A, Regan L, Sebire N, Dixon P, Fisher RA, Van den Veyver IB, Altm?e S. No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility. Hum Reprod. 2015 Jan; 30(1):232-8. PMID: 25376457; PMCID: PMC4262469.
      Citations: 6     Fields:    Translation:Humans
    64. Westerfield L, Darilek S, van den Veyver IB. Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis. J Clin Med. 2014 Sep 12; 3(3):1018-32. PMID: 26237491; PMCID: PMC4449641.
      Citations: 20     
    65. Chandrasekharan S, McGuire AL, Van den Veyver IB. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care? Prenat Diagn. 2014 Oct; 34(10):921-6. PMID: 24989832; PMCID: PMC4293120.
      Citations: 2     Fields:    Translation:Humans
    66. Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014 Oct; 164A(10):2633-7. PMID: 25044986; PMCID: PMC4496426.
      Citations: 5     Fields:    Translation:HumansCells
    67. Gregg AR, Van den Veyver IB, Gross SJ, Madankumar R, Rink BD, Norton ME. Noninvasive prenatal screening by next-generation sequencing. Annu Rev Genomics Hum Genet. 2014; 15:327-47. PMID: 24849140.
      Citations: 14     Fields:    Translation:Humans
    68. Bui TH, Raymond FL, Van den Veyver IB. Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? Prenat Diagn. 2014 Jan; 34(1):12-7. PMID: 24214820.
      Citations: 3     Fields:    Translation:Humans
    69. Mahadevan S, Wen S, Balasa A, Fruhman G, Mateus J, Wagner A, Al-Hussaini T, Van den Veyver IB. No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles. Prenat Diagn. 2013 Dec; 33(13):1242-7. PMID: 24105752; PMCID: PMC3951116.
      Citations: 5     Fields:    Translation:HumansCells
    70. Mahadevan S, Wen S, Wan YW, Peng HH, Otta S, Liu Z, Iacovino M, Mahen EM, Kyba M, Sadikovic B, Van den Veyver IB. NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation. Hum Mol Genet. 2014 Feb 01; 23(3):706-16. PMID: 24105472; PMCID: PMC3888260.
      Citations: 24     Fields:    Translation:HumansCells
    71. Aagaard K, Riehle K, Ma J, Segata N, Mistretta TA, Coarfa C, Raza S, Rosenbaum S, Van den Veyver I, Milosavljevic A, Gevers D, Huttenhower C, Petrosino J, Versalovic J. A metagenomic approach to characterization of the vaginal microbiome signature in pregnancy. PLoS One. 2012; 7(6):e36466. PMID: 22719832; PMCID: PMC3374618.
      Citations: 238     Fields:    Translation:HumansCells
    72. Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA. Ophthalmologic findings in Aicardi syndrome. J AAPOS. 2012 Jun; 16(3):238-41. PMID: 22681940; PMCID: PMC3650611.
      Citations: 13     Fields:    Translation:Humans
    73. Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61. PMID: 22467166.
      Citations: 35     Fields:    Translation:HumansCells
    74. Shaffer LG, Van den Veyver IB. New technologies for the assessment of chromosomes in prenatal diagnosis. Prenat Diagn. 2012 Apr; 32(4):307-8. PMID: 22467159.
      Citations: 1     Fields:    Translation:Humans
    75. Willis AS, van den Veyver I, Eng CM. Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat Diagn. 2012 Apr; 32(4):315-20. PMID: 22467161.
      Citations: 6     Fields:    Translation:Humans
    76. Liu W, Shaver TM, Balasa A, Ljungberg MC, Wang X, Wen S, Nguyen H, Van den Veyver IB. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One. 2012; 7(3):e32331. PMID: 22412863; PMCID: PMC3295752.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    77. Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL. Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20. PMID: 22470934.
      Citations: 11     Fields:    Translation:HumansCells
    78. Sanchez-Valle A, Sadikovic B, Sangi-Haghpeykar H, Bravo J, Chen L, Liu W, Wen S, Fiorotto ML, Veyver IB, Balasa A. Chronic maternal protein deprivation in mice is associated with overexpression of the cohesin-mediator complex in liver of their offspring. J Nutr. 2011 Dec; 141(12):2106-12. PMID: 22013202; PMCID: PMC3223869.
      Citations: 6     Fields:    Translation:AnimalsCells
    79. Harris RA, Ferrari F, Ben-Shachar S, Wang X, Saade G, Van Den Veyver I, Facchinetti F, Aagaard-Tillery K. Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths. Prenat Diagn. 2011 Oct; 31(10):932-44. PMID: 21732394; PMCID: PMC3183137.
      Citations: 8     Fields:    Translation:Humans
    80. Strassberg M, Fruhman G, Van den Veyver IB. Copy-number changes in prenatal diagnosis. Expert Rev Mol Diagn. 2011 Jul; 11(6):579-92. PMID: 21745012.
      Citations: 3     Fields:    Translation:Humans
    81. Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P. PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13. PMID: 20854095.
      Citations: 6     Fields:    Translation:HumansCells
    82. Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A. 2010 Jul; 152A(7):1825-31. PMID: 20583181; PMCID: PMC2909110.
      Citations: 2     Fields:    Translation:Humans
    83. Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver I. Management of ornithine transcarbamylase deficiency in pregnancy. Am J Perinatol. 2010 Nov; 27(10):775-84. PMID: 20458665.
      Citations: 15     Fields:    Translation:Humans
    84. Fruhman G, Van den Veyver IB. Applications of array comparative genomic hybridization in obstetrics. Obstet Gynecol Clin North Am. 2010 Mar; 37(1):71-85, Table of Contents. PMID: 20494259.
      Citations: 10     Fields:    Translation:Humans
    85. Olivarez SA, Maheshwari B, McCarthy M, Zacharias N, van den Veyver I, Casturi L, Sangi-Haghpeykar H, Aagaard-Tillery K. Prospective trial on obstructive sleep apnea in pregnancy and fetal heart rate monitoring. Am J Obstet Gynecol. 2010 Jun; 202(6):552.e1-7. PMID: 20171603.
      Citations: 32     Fields:    Translation:Humans
    86. Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB. A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2113-21. PMID: 19760649; PMCID: PMC3640635.
      Citations: 6     Fields:    Translation:Humans
    87. Kolomeyevskaya N, Blazo M, Van den Veyver I, Strehlow S, Aagaard-Tillery KM. Pheochromocytoma and Von Hippel-Lindau in pregnancy. Am J Perinatol. 2010 Mar; 27(3):257-63. PMID: 19784914.
      Citations:    Fields:    Translation:Humans
    88. Scott RW, Pivnick EK, Dowell SH, Eubanks JW, Huang EY, Van den Veyver IB, Wang X. Goltz syndrome: report of two severe cases. BMJ Case Rep. 2009; 2009. PMID: 21686566; PMCID: PMC3028403.
      Citations:    Fields:    
    89. Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar; 125(2):211-6. PMID: 19116729; PMCID: PMC2660246.
      Citations: 4     Fields:    Translation:Humans
    90. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39. PMID: 19012303; PMCID: PMC3665952.
      Citations: 39     Fields:    Translation:Humans
    91. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15; 146A(22):2871-8. PMID: 18925666; PMCID: PMC2597151.
      Citations: 26     Fields:    Translation:Humans
    92. Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB. A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod. 2008 Jan; 14(1):33-40. PMID: 18039680.
      Citations: 43     Fields:    Translation:HumansCells
    93. Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul; 39(7):836-8. PMID: 17546030.
      Citations: 92     Fields:    Translation:HumansCells
    94. Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84. PMID: 17621479.
      Citations: 9     Fields:    Translation:Humans
    95. Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27. PMID: 17108764.
      Citations: 36     Fields:    Translation:HumansCells
    96. Delgado IJ, Kim DS, Thatcher KN, LaSalle JM, Van den Veyver IB. Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients. BMC Med Genet. 2006 Jul 21; 7:61. PMID: 16859563; PMCID: PMC1569822.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    97. Van den Veyver IB, Beaudet AL. Comparative genomic hybridization and prenatal diagnosis. Curr Opin Obstet Gynecol. 2006 Apr; 18(2):185-91. PMID: 16601480.
      Citations: 8     Fields:    Translation:Humans
    98. Van den Veyver IB, Al-Hussaini TK. Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring. Hum Reprod Update. 2006 May-Jun; 12(3):233-42. PMID: 16540529.
      Citations: 17     Fields:    Translation:HumansCells
    99. Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB. Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8. PMID: 16158440.
      Citations: 12     Fields:    Translation:Humans
    100. Amir RE, Sutton VR, Van den Veyver IB. Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. J Child Neurol. 2005 Sep; 20(9):779-83. PMID: 16225835.
      Citations: 3     Fields:    Translation:Humans
    101. Prakash SK, Gibson CW, Wright JT, Boyd C, Cormier T, Sierra R, Li Y, Abrams WR, Aragon MA, Yuan ZA, van den Veyver IB. Tooth enamel defects in mice with a deletion at the Arhgap 6/Amel X locus. Calcif Tissue Int. 2005 Jul; 77(1):23-9. PMID: 16007484.
      Citations: 10     Fields:    Translation:HumansAnimals
    102. Panichkul PC, Al-Hussaini TK, Sierra R, Kashork CD, Popek EJ, Stockton DW, Van den Veyver IB. Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis. J Soc Gynecol Investig. 2005 Jul; 12(5):376-83. PMID: 15979551.
      Citations: 5     Fields:    Translation:HumansCells
    103. Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005 Feb; 42(2):e15. PMID: 15689438; PMCID: PMC1735975.
      Citations: 18     Fields:    Translation:Humans
    104. Yu L, Liu C, Bennett K, Wu YZ, Dai Z, Vandeusen J, Opavsky R, Raval A, Trikha P, Rodriguez B, Becknell B, Mao C, Lee S, Davuluri RV, Leone G, Van den Veyver IB, Caligiuri MA, Plass C. A NotI-EcoRV promoter library for studies of genetic and epigenetic alterations in mouse models of human malignancies. Genomics. 2004 Oct; 84(4):647-60. PMID: 15475242.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    105. Van den Veyver IB, Panichkul PP, Antalffy BA, Sun Y, Hunter JV, Armstrong DD. Presence of filamin in the astrocytic inclusions of Aicardi syndrome. Pediatr Neurol. 2004 Jan; 30(1):7-15. PMID: 14738943.
      Citations: 8     Fields:    Translation:HumansCells
    106. Al-Hussaini TK, Abd el-Aal DM, Van den Veyver IB. Recurrent pregnancy loss due to familial and non-familial habitual molar pregnancy. Int J Gynaecol Obstet. 2003 Nov; 83(2):179-86. PMID: 14550593.
      Citations: 2     Fields:    Translation:Humans
    107. Saxena A, Frank D, Panichkul P, Van den Veyver IB, Tycko B, Thaker H. The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole. Placenta. 2003 Sep-Oct; 24(8-9):835-42. PMID: 13129680.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    108. Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell. 2003 Aug; 12(2):425-35. PMID: 14536082.
      Citations: 55     Fields:    Translation:AnimalsCells
    109. Van den Veyver IB, Zoghbi HY. Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6. PMID: 12112732.
      Citations: 16     Fields:    Translation:HumansCells
    110. Van den Veyver IB. Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? Cytogenet Genome Res. 2002; 99(1-4):289-96. PMID: 12900577.
      Citations: 11     Fields:    Translation:HumansAnimals
    111. Van den Veyver IB, Zoghbi HY. Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51. PMID: 11738862.
      Citations: 16     Fields:    Translation:Humans
    112. Cormier TA, Prakash SK, Magner DB, Zoghbi HY, Van den Veyver IB. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome. 2001 Oct; 12(10):796-8. PMID: 11668396.
      Citations: 2     Fields:    Translation:AnimalsCells
    113. Bacino CA, Stockton DW, Sierra RA, Heilstedt HA, Lewandowski R, Van den Veyver IB. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. Am J Med Genet. 2000 Sep 11; 94(2):102-12. PMID: 10982966.
      Citations: 5     Fields:    Translation:HumansCells
    114. Van den Veyver IB, Zoghbi HY. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9. PMID: 10826991.
      Citations: 35     Fields:    Translation:HumansCells
    115. Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9. PMID: 10805343.
      Citations: 80     Fields:    Translation:HumansCells
    116. Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4. PMID: 10739772; PMCID: PMC1288215.
      Citations: 6     Fields:    Translation:HumansCells
    117. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8. PMID: 10508514.
      Citations: 1853     Fields:    Translation:HumansCells
    118. Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 01; 59(1):77-84. PMID: 10395802.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    119. Moglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R. Genetic mapping of a maternal locus responsible for familial hydatidiform moles. Hum Mol Genet. 1999 Apr; 8(4):667-71. PMID: 10072436.
      Citations: 15     Fields:    Translation:HumansCells
    120. Van Den Veyver IB, Yankowitz J, Subramanian SB, Dorman KF, Moise KJ. Discordance between fetal RhD typing using molecular methods and neonatal typing with serology. Gynecol Obstet Invest. 1999; 48(4):229-31. PMID: 10592422.
      Citations:    Fields:    Translation:Humans
    121. Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. 1998 Jul 15; 51(2):251-61. PMID: 9722948.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    122. Van den Veyver IB, Subramanian S, Zoghbi HY. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):179-81. PMID: 9674913.
      Citations:    Fields:    Translation:HumansCells
    123. Van den Veyver IB, Roa BB. Applied molecular genetic techniques for prenatal diagnosis. Curr Opin Obstet Gynecol. 1998 Apr; 10(2):97-103. PMID: 9551303.
      Citations: 1     Fields:    Translation:Humans
    124. Van den Veyver IB, Ni J, Bowles N, Carpenter RJ, Weiner CP, Yankowitz J, Moise KJ, Henderson J, Towbin JA. Detection of intrauterine viral infection using the polymerase chain reaction. Mol Genet Metab. 1998 Feb; 63(2):85-95. PMID: 9562961.
      Citations: 20     Fields:    Translation:Humans
    125. Van den Veyver IB, Moise KJ. Fetal RhD typing by polymerase chain reaction in pregnancies complicated by rhesus alloimmunization. Obstet Gynecol. 1996 Dec; 88(6):1061-7. PMID: 8942854.
      Citations: 1     Fields:    Translation:Humans
    126. Van Den Veyver IB, Subramanian SB, Hudson KM, Werch J, Moise KJ, Hughes MR. Prenatal diagnosis of the RhD fetal blood type on amniotic fluid by polymerase chain reaction. Obstet Gynecol. 1996 Mar; 87(3):419-22. PMID: 8598966.
      Citations: 1     Fields:    Translation:HumansCells
    127. Montgomery LD, Belfort MA, Saade GR, Baker BW, Pokorny W, Minifee P, Langston C, Jevon G, Van den Veyver I, Robie D, et al. Iatrogenic gastroschisis decreases pulmonary hypoplasia in an ovine congenital diaphragmatic hernia model. Fetal Diagn Ther. 1995 Mar-Apr; 10(2):119-26. PMID: 7794512.
      Citations: 4     Fields:    Translation:Animals
    128. Van den Veyver IB, Chong SS, Cota J, Bennett PR, Fisk NM, Handyside AH, Cartron JP, Le Van Kim C, Colin Y, Snabes MC, et al. Single-cell analysis of the RhD blood type for use in preimplantation diagnosis in the prevention of severe hemolytic disease of the newborn. Am J Obstet Gynecol. 1995 Feb; 172(2 Pt 1):533-40. PMID: 7856682.
      Citations: 1     Fields:    Translation:HumansCells
    129. Kramer WB, Van den Veyver IB, Kirshon B. Treatment of polyhydramnios with indomethacin. Clin Perinatol. 1994 Sep; 21(3):615-30. PMID: 7982337.
      Citations: 1     Fields:    Translation:Humans
    130. Van den Veyver IB, Chong SS, Kristjansson K, Snabes MC, Moise KJ, Hughes MR. Molecular analysis of human platelet antigen system 1 antigen on single cells can be applied to preimplantation genetic diagnosis for prevention of alloimmune thrombocytopenia. Am J Obstet Gynecol. 1994 Mar; 170(3):807-12. PMID: 8141206.
      Citations:    Fields:    Translation:HumansCells
    131. Kristjansson K, Chong SS, Van den Veyver IB, Subramanian S, Snabes MC, Hughes MR. Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification. Nat Genet. 1994 Jan; 6(1):19-23. PMID: 8136827.
      Citations: 12     Fields:    Translation:HumansCells
    132. Van den Veyver IB, Macha ME, McCaskill C, Carpenter RJ, Shaffer LG. Prenatal diagnosis and clinical findings in a case of hexasomy 12p. Am J Med Genet. 1993 Dec 01; 47(8):1171-4. PMID: 8291550.
      Citations: 2     Fields:    Translation:HumansCells
    133. Van den Veyver IB, Moise KJ, Ou CN, Carpenter RJ. The effect of gestational age and fetal indomethacin levels on the incidence of constriction of the fetal ductus arteriosus. Obstet Gynecol. 1993 Oct; 82(4 Pt 1):500-3. PMID: 8377971.
      Citations: 8     Fields:    Translation:Humans
    134. Van den Veyver IB, Moise KJ. Prostaglandin synthetase inhibitors in pregnancy. Obstet Gynecol Surv. 1993 Jul; 48(7):493-502. PMID: 8355924.
      Citations: 8     Fields:    Translation:HumansAnimals
    135. Van den Veyver IB, Schatteman E, Vanderheyden JS, Van Wiemeersch J, Meulyzer P. Antenatal fetal death in twin pregnancies: a dangerous condition mainly for the surviving co-twin; a report of four cases. Eur J Obstet Gynecol Reprod Biol. 1991 Jan 04; 38(1):69-73. PMID: 1988328.
      Citations: 2     Fields:    Translation:Humans
    136. Van den Veyver I, Vanderheyden J, Krauss E, Jankie S. Aseptic necrosis of the femoral head associated with pregnancy; a case report. Eur J Obstet Gynecol Reprod Biol. 1990 Jul-Aug; 36(1-2):167-73. PMID: 2365122.
      Citations: 2     Fields:    Translation:Humans
    137. van Dam PA, Van Goethem ML, Kersschot E, Vervliet J, Van den Veyver IB, De Schepper A, Buytaert P. Palpable solid breast masses: retrospective single- and multimodality evaluation of 201 lesions. Radiology. 1988 Feb; 166(2):435-9. PMID: 3275983.
      Citations: 3     Fields:    Translation:Humans
    138. Gerris J, Van Nueten J, Van Camp C, Gentens P, Van de Vijver I, Van Camp K. Clinical aspects in the surgical treatment of varicocele in subfertile men. II. The role of the epididymal factor. Eur J Obstet Gynecol Reprod Biol. 1988 Jan; 27(1):43-51. PMID: 3338608.
      Citations:    Fields:    Translation:Humans
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