2021-2022

OR04-5 Circulating cell-free DNA-based biomarkers For prognostication and disease surveillance in adrenocortical carcinoma | Altieri B, et al | Journal of the Endocrine Society | Nov. 2022

By Celina Whalley / March 28, 2024 / Comments Off on OR04-5 Circulating cell-free DNA-based biomarkers For prognostication and disease surveillance in adrenocortical carcinoma | Altieri B, et al | Journal of the Endocrine Society | Nov. 2022

Lippert J, Smith G, Appenzeller S, Landwehr LS, Prete A, Steinhauer S, et al. Circulating cell-free DNA-based biomarkers for prognostication and disease monitoring in adrenocortical carcinoma. European Journal of Endocrinology. 2024;lvae022. Nonacus products: Sample collection and isolation / Custom panels Abstract Adrenocortical carcinoma (ACC) is a rare aggressive cancer with heterogeneous behaviour. Disease surveillance relies on…

Read More

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene | Horton‐Bell M, et al | Prenatal Diagnosis | Nov. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene | Horton‐Bell M, et al | Prenatal Diagnosis | Nov. 2022

Horton‐Bell M, Hamilton S, Keelagher R, Allen S, De Burca A, Ioannou C, et al. Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene. Prenatal Diagnosis. 2022;42(12):1481-3. Nonacus products: Prenatal healthcare Abstract A couple were referred for prenatal genetic testing at 31 weeks’ gestation due to the presence of…

Read More

Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset primary ovarian insufficiency cohort | McGlacken-Byrne SM, et al | Hormone research in paediatrics | Sep. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset primary ovarian insufficiency cohort | McGlacken-Byrne SM, et al | Hormone research in paediatrics | Sep. 2022

McGlacken-Byrne SM, Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Cameron-Pimblett A, et al. Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset Primary Ovarian Insufficiency cohort. Hormone research in paediatrics 2022;95;2; 386-387 Nonacus products: Germline Background The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often…

Read More

A novel bead-capture nanopore sequencing method for large structural rearrangement detection in cancer | Fisher CL, et al | Journal of Molecular Diagnostics | Dec. 2022

By nonacus-developer / August 25, 2023 / Comments Off on A novel bead-capture nanopore sequencing method for large structural rearrangement detection in cancer | Fisher CL, et al | Journal of Molecular Diagnostics | Dec. 2022

Fisher CL, Dillon R, Anguita E, Morris-Rosendahl DJ, Awan AR. A novel bead-capture nanopore sequencing method for large structural rearrangement detection in cancer. The Journal of Molecular Diagnostics. 2022;24(12):1264-78. Nonacus products: Oncology Abstract Rapid, cost-effective genomic stratification of structural rearrangements in cancer is often of vital importance when determining treatment; existing diagnostic cytogenetic and molecular testing…

Read More

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome | Suntharalingham JP, et al | Frontiers in Endocrinology | Aug. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome | Suntharalingham JP, et al | Frontiers in Endocrinology | Aug. 2022

Suntharalingham JP, Ishida M, Del Valle I, Stalman SE, Achermann JC, et al. Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome. Frontiers in Endocrinology. 2022;13:953707. Nonacus Products: Prenatal healthcare Background Heterozygous de novo variants in SAMD9 cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. The range of…

Read More

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita | Tummala H, et al | The American Journal of Human Genetics | Aug. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita | Tummala H, et al | The American Journal of Human Genetics | Aug. 2022

Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, et al. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. The American Journal of Human Genetics. 2022;109(8):1472-83. Nonacus products: Germline Summary:  Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation,…

Read More

A new MAMLD1 variant in an infant with microphallus and hypospadias with hormonal pattern suggesting partial hypogonadotropic hypogonadism—case report | Yeste D, et al | Frontiers in Endocrinology | Jun. 2022

By nonacus-developer / August 25, 2023 / Comments Off on A new MAMLD1 variant in an infant with microphallus and hypospadias with hormonal pattern suggesting partial hypogonadotropic hypogonadism—case report | Yeste D, et al | Frontiers in Endocrinology | Jun. 2022

  Yeste D, Aguilar-Riera C, Canestrino G, Fernández-Alvarez P, Clemente M, Camats-Tarruella N. A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report. Frontiers in Endocrinology. 2022;13:884107.   Nonacus Products: Prenatal heathcare Abstract MAMLD1 (X chromosome) is one of the recognized genes related to different sex…

Read More

Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours | Maher GJ, et al | NPJ Genomic Medicine | Apr. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours | Maher GJ, et al | NPJ Genomic Medicine | Apr. 2022

Maher GJ, Fisher RA, Kaur B, Aguiar X, Aravind P, Cedeno N, et al. Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours. NPJ Genomic Medicine. 2022;7(1):26. Nonacus Products: Oncology Abstract Tumours expressing human chorionic gonadotropin (hCG), the majority of which are difficult to biopsy due to their vascularity,…

Read More

Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings | Haworth A, et al | Genetics in Medicine | Mar. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings | Haworth A, et al | Genetics in Medicine | Mar. 2022

Haworth A, Homfray T, Drury S, Dubis R, McEntagart M, Brown KT, et al. eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings. Genetics in Medicine. 2022;24(3):S226.    Nonacus Products: Germline Abstract Skeletal dysplasias are rare disorders representing approximately 5% of all congenital anomalies. They are highly…

Read More

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency | McGlacken-Byrne SM, et al | JCI Insight | Mar. 2022

By nonacus-developer / August 25, 2023 / Comments Off on Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency | McGlacken-Byrne SM, et al | JCI Insight | Mar. 2022

McGlacken-Byrne SM, Del Valle I, Stabej PL, Bellutti L, Garcia-Alonso L, Ocaka LA, Ishida M, Suntharalingham JP, Gagunashvili A, Ogunbiyi OK, Mistry T. Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency. JCI insight. 2022;7(5).    Nonacus Products: Prenatal healthcare Abstract Primary ovarian insufficiency (POI) affects 1% of women and…

Read More