An assessment of sex bias in neurodevelopmental disorders

por Polyak, Andrew, Rosenfeld, Jill A., Girirajan, Santhosh
Publicado 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 2017

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 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 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 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 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 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 2009

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy‐Associated Genes

por Yang, Qixin, Berkman, Amy M., Ezekian, Jordan E., Rosamilia, Michael, Rosenfeld, Jill A., Liu, Pengfei, Landstrom, Andrew P.
Publicado 2022

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 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 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 2019

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 2021

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes

por Button, Emily L., Rossi, Joseph J., McDougal, Daniel P., Bruning, John B., Peet, Daniel J., Bersten, David C., Rosenfeld, Jill A., Whitelaw, Murray L.
Publicado 2022

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

por Campbell, Ian M, Gambin, Tomasz, Dittwald, Piotr, Beck, Christine R, Shuvarikov, Andrey, Hixson, Patricia, Patel, Ankita, Gambin, Anna, Shaw, Chad A, Rosenfeld, Jill A, Stankiewicz, Paweł
Publicado 2014

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

por Yankee, Tara N., Oh, Sungryong, Winchester, Emma Wentworth, Wilderman, Andrea, Robinson, Kelsey, Gordon, Tia, Rosenfeld, Jill A., VanOudenhove, Jennifer, Scott, Daryl A., Leslie, Elizabeth J., Cotney, Justin
Publicado 2023

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

por Shaffer, Lisa G, Dabell, Mindy P, Fisher, Allan J, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Rosenfeld, Jill A
Publicado 2012

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

por Shaffer, Lisa G, Rosenfeld, Jill A, Dabell, Mindy P, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Fisher, Allan J
Publicado 2012

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

por Kurzlechner, Leonie M., Jones, Edward G., Berkman, Amy M., Tadros, Hanna J., Rosenfeld, Jill A., Yang, Yaping, Tunuguntla, Hari, Allen, Hugh D., Kim, Jeffrey J., Landstrom, Andrew P.
Publicado 2022

Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR

por Cunha, Pricila da Silva, Pena, Heloisa B., D'Angelo, Carla Sustek, Koiffmann, Celia P., Rosenfeld, Jill A., Shaffer, Lisa G., Stofanko, Martin, Gonçalves-Dornelas, Higgor, Pena, Sérgio Danilo Junho
Publicado 2014