Aren Elizabeth Marshall (Aren E Marshall)

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 14

Top Topics

Intellectual Disability

High Throughput Sequencing

Top Venues

American journal of medical genetics. Part A

Neurology. Genetics

Molecular genetics & genomic medicine

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Aren Elizabeth Marshall, Lauren Brady, Ed Yeh, Alan J Mears, Melanie Lacaria, Pranesh Chakraborty, Mark A Tarnopolsky, Kristin D Kernohan
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. American journal of medical genetics. Part A 194 (7) (2024)
Aren Elizabeth Marshall, Lauren Brady, Ed Yeh, Alan J Mears, Melanie Lacaria, Pranesh Chakraborty, Mark A Tarnopolsky, Kristin D Kernohan
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. American journal of medical genetics. Part A 194 (7) (2024)
Aren Elizabeth Marshall, Lauren Brady, Ed Yeh, Alan J Mears, Melanie Lacaria, Pranesh Chakraborty, Mark A Tarnopolsky, Kristin D Kernohan
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10. American journal of medical genetics. Part A (2024)
Priya T Bhola, Aren Elizabeth Marshall, Yijing Liang, Madeline Couse, Xueqi Wang, Elka Miller, Chantal F Morel, Kym M Boycott, Kristin D Kernohan
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder. American journal of medical genetics. Part A (2023)
Aren Elizabeth Marshall, Yijing Liang, Madeline Couse, Haley McConkey, null null, Bekim Sadikovic, Kym M Boycott, David A Dyment, Kristin D Kernohan
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance. Journal of human genetics (2023)
Aren Elizabeth Marshall, Gabrielle T Lemire, Yijing Liang, Jorge Davila, Madeline Couse, null null, Kym M Boycott, Kristin D Kernohan
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31. American journal of medical genetics. Part A (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
Giulia F Del Gobbo, Xueqi Wang, Madeline Couse, Layla Mackay, Claire Goldsmith, Aren Elizabeth Marshall, Yijing Liang, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William J Rowell, null null, Christian R Marshall, Kristin D Kernohan, Kym M Boycott
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development. American journal of medical genetics. Part A 194 (5) (2023)
Giulia F Del Gobbo, Xueqi Wang, Madeline Couse, Layla Mackay, Claire Goldsmith, Aren Elizabeth Marshall, Yijing Liang, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William J Rowell, null null, Christian R Marshall, Kristin D Kernohan, Kym M Boycott
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development. American journal of medical genetics. Part A 194 (5) (2023)
Giulia F Del Gobbo, Xueqi Wang, Madeline Couse, Layla Mackay, Claire Goldsmith, Aren Elizabeth Marshall, Yijing Liang, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William J Rowell, null null, Christian R Marshall, Kristin D Kernohan, Kym M Boycott
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development. American journal of medical genetics. Part A (2023)
Giulia F Del Gobbo, Xueqi Wang, Madeline Couse, Layla Mackay, Claire Goldsmith, Aren Elizabeth Marshall, Yijing Liang, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William J Rowell, null null, Christian R Marshall, Kristin D Kernohan, Kym M Boycott
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development. American journal of medical genetics. Part A 194 (5) (2023)
Aren Elizabeth Marshall, Stella K MacDonald, Yijing Liang, Madeline Couse, null null, Kym M Boycott, Julie Richer, Kristin D Kernohan
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report. Molecular genetics & genomic medicine (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
Giulia F Del Gobbo, Xueqi Wang, Madeline Couse, Layla Mackay, Claire Goldsmith, Aren Elizabeth Marshall, Yijing Liang, Christine Lambert, Siyuan Zhang, Harsharan Dhillon, Cairbre Fanslow, William J Rowell, null null, Christian R Marshall, Kristin D Kernohan, Kym M Boycott
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development. American journal of medical genetics. Part A 194 (5) (2023)