Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies

Por Rosenfeld, Jill A., Patel, Ankita
Publicado no J Pediatr Genet (2017)

An assessment of sex bias in neurodevelopmental disorders

Por Polyak, Andrew, Rosenfeld, Jill A., Girirajan, Santhosh
Publicado no Genome Med (2015)

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

Por Cassa, Christopher A., Akle, Sebastian, Jordan, Daniel M., Rosenfeld, Jill A.
Publicado no Cold Spring Harb Mol Case Stud (2017)

Duplication of HEY2 in Cardiac and Neurologic Development

Por Jordan, Valerie K., Rosenfeld, Jill A., Lalani, Seema R., Scott, Daryl A.
Publicado no Am J Med Genet A (2015)

Estimates of penetrance for recurrent pathogenic copy-number variations

Por Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.
Publicado em 2013

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

Por Callaway, Jonathan L A, Shaffer, Lisa G, Chitty, Lyn S, Rosenfeld, Jill A, Crolla, John A
Publicado no Prenat Diagn (2013)

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

Por Glassford, Megan R., Rosenfeld, Jill A., Freedman, Alexa A., Zwick, Michael E., Mulle, Jennifer G.
Publicado no Am J Med Genet A (2016)

Homozygous deletion of Tenascin-R in a patient with intellectual disability

Por Dufresne, David, Hamdan, Fadi F, Rosenfeld, Jill A, Torchia, Beth, Rosenblatt, Bernard, Michaud, Jacques L, Srour, Myriam
Publicado em 2012

The transcription factor Maz is essential for normal eye development

Por Medina-Martinez, Olga, Haller, Meade, Rosenfeld, Jill A., O'Neill, Marisol A., Lamb, Dolores J., Jamrich, Milan
Publicado no Dis Model Mech (2020)

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

Por Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C
Publicado em 2009

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

Por Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.
Publicado em 2009

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

Por Rosenfeld, Jill A., Ballif, Blake C., Lucas, Ann, Spence, Edward J., Powell, Cynthia, Aylsworth, Arthur S., Torchia, Beth A., Shaffer, Lisa G.
Publicado em 2009

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

Por Headrick, Andrew T., Rosenfeld, Jill A., Yang, Yaping, Tunuguntla, Hari, Allen, Hugh D., Penny, Daniel J., Kim, Jeffrey J., Landstrom, Andrew P.
Publicado no Mol Genet Genomic Med (2019)

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Por Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.
Publicado em 2014

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

Por Rossi, Joseph J., Rosenfeld, Jill A., Chan, Katie M., Streff, Haley, Nankivell, Victoria, Peet, Daniel J., Whitelaw, Murray L., Bersten, David C.
Publicado no Sci Rep (2021)

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

Por Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H
Publicado em 2010

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

Por Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Liu, Pengfei, Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.
Publicado no J Med Genet (2022)

Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints

Por Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.
Publicado em 2010

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

Por 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.
Publicado em 2011

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

Por 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
Publicado em 2012