Databases of genomic variation and phenotypes: existing resources and future needs

Tekijä Johnston, Jennifer J., Biesecker, Leslie G.
Julkaistu 2013

Suppurative complications of acute hematogenous osteomyelitis in children

Tekijä Johnston, Jennifer J., Murray-Krezan, Cristina, Dehority, Walter
Julkaisussa J Pediatr Orthop B (2017)

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Tekijä Bardakjian, Tanya M, Schneider, Adele S, Ng, David, Johnston, Jennifer J, Biesecker, Leslie G
Julkaistu 2009

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene

Tekijä Ulucan, Hakan, Gül, Davut, Sapp, Julie C, Cockerham, John, Johnston, Jennifer J, Biesecker, Leslie G
Julkaistu 2008

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness

Tekijä Patton, John, Brewer, Carmen, Chien, Wade, Johnston, Jennifer J, Griffith, Andrew J, Biesecker, Leslie G
Julkaisussa Eur J Hum Genet (2017)

Factors associated with provision of smoking cessation support to pregnant women – a cross-sectional survey of midwives in New South Wales, Australia

Tekijä Passey, Megan E., Longman, Jo M., Adams, Catherine, Johnston, Jennifer J., Simms, Jessica, Rolfe, Margaret
Julkaisussa BMC Pregnancy Childbirth (2020)

Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene

Tekijä Gripp, Karen W., Hopkins, Elizabeth, Johnston, Jennifer J., Krause, Caitlin, Dobyns, William B., Biesecker, Leslie G.
Julkaistu 2011

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening

Tekijä Ng, David, Hong, Celine S., Singh, Larry N., Johnston, Jennifer J., Mullikin, James C., Biesecker, Leslie G.
Julkaisussa Genet Med (2016)

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

Tekijä Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Julkaisussa Hum Genome Var (2016)

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked Oculo-Facio-Cardio-Dental syndrome in a girl

Tekijä Jiang, Yong-hui, Fang, Ping, Adesina, Adekunle M., Furman, Patricia, Johnston, Jennifer J., Biesecker, Leslie G., Brown, Chester W.
Julkaistu 2009

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

Tekijä Sapp, Julie C., Nishimura, Darryl, Johnston, Jennifer J., Stone, Edwin M., Héon, Elise, Sheffield, Val C., Biesecker, Leslie G.
Julkaistu 2010

Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study

Tekijä Taber, Jennifer M., Klein, William M.P., Lewis, Katie L., Johnston, Jennifer J., Biesecker, Leslie G., Biesecker, Barbara B.
Julkaisussa Genet Med (2017)

Diagnosing Potentially Preventable Hospitalisations (DaPPHne): protocol for a mixed-methods data-linkage study

Tekijä Passey, Megan E, Longman, Jo M, Johnston, Jennifer J, Jorm, Louisa, Ewald, Dan, Morgan, Geoff G, Rolfe, Margaret, Chalker, Bronwyn
Julkaisussa BMJ Open (2015)

Health Behaviors Amongst Unaffected Participants Following Receipt of Variants of Uncertain Significance in Cardiomyopathy-Associated Genes

Tekijä Miller, Ilana M., Lewis, Katie L., Lawal, Tokunbor A., Ng, David, Johnston, Jennifer J., Biesecker, Barbara B., Biesecker, Leslie G.
Julkaisussa Genet Med (2018)

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

Tekijä Teer, Jamie K, Johnston, Jennifer J, Anzick, Sarah L, Pineda, Marbin, Stone, Gary, Meltzer, Paul S, Mullikin, James C, Biesecker, Leslie G
Julkaistu 2013

Cross-Modal Information Integration in Category Learning

Tekijä Smith, J. David, Johnston, Jennifer J. R., Musgrave, Robert D., Zakrzewski, Alexandria C., Boomer, Joseph, Church, Barbara A., Ashby, F. Gregory
Julkaistu 2014

Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome

Tekijä Brinckman, Danielle D., Keppler-Noreuil, Kim M., Blumhorst, Catherine, Biesecker, Leslie G., Sapp, Julie C., Johnston, Jennifer J., Wiggs, Edythe A.
Julkaisussa Am J Med Genet A (2013)

Generalization of Category Knowledge and Dimensional Categorization in Humans (Homo sapiens) and Nonhuman Primates (Macaca mulatta)

Tekijä Smith, J. David, Zakrzewski, Alexandria C., Johnston, Jennifer J. R., Roeder, Jessica L., Boomer, Joseph, Ashby, F. Gregory, Church, Barbara A.
Julkaisussa J Exp Psychol Anim Learn Cogn (2015)

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Tekijä Johnston, Jennifer J., Rubinstein, Wendy S., Facio, Flavia M., Ng, David, Singh, Larry N., Teer, Jamie K., Mullikin, James C., Biesecker, Leslie G.
Julkaistu 2012

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Tekijä Johnston, Jennifer J., Teer, Jamie K., Cherukuri, Praveen F., Hansen, Nancy F., Loftus, Stacie K., Chong, Karen, Mullikin, James C., Biesecker, Leslie G.
Julkaistu 2010