Search Results - Rosenfeld, Jill A.

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  1. 1
    Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies

    Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies by Rosenfeld, Jill A., Patel, Ankita

    Published 2017
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  2. 2
    An assessment of sex bias in neurodevelopmental disorders

    An assessment of sex bias in neurodevelopmental disorders by Polyak, Andrew, Rosenfeld, Jill A., Girirajan, Santhosh

    Published 2015
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  3. 3
    When “N of 2” is not enough: integrating statistical and functional data in gene discovery

    When “N of 2” is not enough: integrating statistical and functional data in gene discovery by Cassa, Christopher A., Akle, Sebastian, Jordan, Daniel M., Rosenfeld, Jill A.

    Published 2017
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  4. 4
    Duplication of HEY2 in Cardiac and Neurologic Development

    Duplication of HEY2 in Cardiac and Neurologic Development by Jordan, Valerie K., Rosenfeld, Jill A., Lalani, Seema R., Scott, Daryl A.

    Published 2015
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  5. 5
    Estimates of penetrance for recurrent pathogenic copy-number variations

    Estimates of penetrance for recurrent pathogenic copy-number variations by Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.

    Published 2013
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  6. 6
    The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

    The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature by Callaway, Jonathan L A, Shaffer, Lisa G, Chitty, Lyn S, Rosenfeld, Jill A, Crolla, John A

    Published 2013
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  7. 7
    Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

    Novel features of 3q29 deletion syndrome: Results from the 3q29 registry by Glassford, Megan R., Rosenfeld, Jill A., Freedman, Alexa A., Zwick, Michael E., Mulle, Jennifer G.

    Published 2016
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  8. 8
    Homozygous deletion of Tenascin-R in a patient with intellectual disability

    Homozygous deletion of Tenascin-R in a patient with intellectual disability by Dufresne, David, Hamdan, Fadi F, Rosenfeld, Jill A, Torchia, Beth, Rosenblatt, Bernard, Michaud, Jacques L, Srour, Myriam

    Published 2012
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  9. 9
    The transcription factor Maz is essential for normal eye development

    The transcription factor Maz is essential for normal eye development by Medina-Martinez, Olga, Haller, Meade, Rosenfeld, Jill A., O'Neill, Marisol A., Lamb, Dolores J., Jamrich, Milan

    Published 2020
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  10. 10
    Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

    Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report by Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C

    Published 2009
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  11. 11
    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

    Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications by Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.

    Published 2009
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  12. 12
    Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

    Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome by Rosenfeld, Jill A., Ballif, Blake C., Lucas, Ann, Spence, Edward J., Powell, Cynthia, Aylsworth, Arthur S., Torchia, Beth A., Shaffer, Lisa G.

    Published 2009
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  13. 13
    Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population variation

    Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population v... by Headrick, Andrew T., Rosenfeld, Jill A., Yang, Yaping, Tunuguntla, Hari, Allen, Hugh D., Penny, Daniel J., Kim, Jeffrey J., Landstrom, Andrew P.

    Published 2019
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  14. 14
    A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

    A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders by Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.

    Published 2014
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  15. 15
    Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

    Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders by Rossi, Joseph J., Rosenfeld, Jill A., Chan, Katie M., Streff, Haley, Nankivell, Victoria, Peet, Daniel J., Whitelaw, Murray L., Bersten, David C.

    Published 2021
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  16. 16
    Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

    Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures by Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H

    Published 2010
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  17. 17
    Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

    Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH by Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Liu, Pengfei, Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.

    Published 2022
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  18. 18
    Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints

    Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints by Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.

    Published 2010
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  19. 19
    Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

    Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH by Neill, Nicholas J., Ballif, Blake C., Lamb, Allen N., Parikh, Sumit, Ravnan, J. Britt, Schultz, Roger A., Torchia, Beth S., Rosenfeld, Jill A., Shaffer, Lisa G.

    Published 2011
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  20. 20
    Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

    Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes by Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

    Published 2012
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