Publications by authors named "Jennifer Scull"

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Cancer Predisposition Syndromes Associated with Most Common Pediatric Solid Tumors.
Jennifer C Scull, Dolores Lopez-Terrada

Surg Pathol Clin· June 2025

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The "genetic test request": A genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital.
Lisa F Saba, Haley Streff, Dolores Lopez-Terrada, Jennifer Scull

Genet Med· February 2025

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Co-Occurrence of and Fusion in a Patient with Relapsed Acute B Lymphoblastic Leukemia.
William Wu, Chihoon Ahn, Jennifer Scull, Kevin E Fisher, Angshumoy Roy

Ann Clin Lab Sci· January 2025

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Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Runjun D Kumar, Lisa F Saba, Haley Streff, Chad A Shaw, Elizabeth Mizerik, Jennifer Scull

Genet Med· October 2023

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Digital necrosis in an infant with severe spinal muscular atrophy.
Diana Carrasco, Pilar Magoulas, Jennifer C Scull, Jill A Jarrell, Seema R Lalani

Neurol Genet· October 2019

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Jennifer Scull

Genome Med· May 2019

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The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Yanming Feng, Xiaoyan Ge, Linyan Meng, Jennifer Scull, Jianli Li

Genet Med· August 2017

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An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Pengfei Liu, Bo Yuan, Claudia M B Carvalho, Arthur Wuster, Klaudia Walter, Jennifer Scull

Cell· February 2017

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Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Jennifer Scull

JAMA· November 2014

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The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Philip M Boone, Bo Yuan, Ian M Campbell, Jennifer C Scull, Marjorie A Withers

Am J Hum Genet· August 2014

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Jennifer Scull

N Engl J Med· October 2013

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