What's New

Last Posted: Dec 05, 2019

• Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
  Blom Maartje et al. Frontiers in immunology 2019 102438
• Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation Genetic Testing of Spinal Muscular Atrophy.
  Zhao Mingjue et al. Frontiers in genetics 2019 101105
• Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study.
  Schlüter Daniela K et al. Thorax 2019 Nov
• International perspectives on the implementation of reproductive carrier screening.
  Delatycki Martin B et al. Prenatal diagnosis 2019 Nov
• Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course.
  Takaya Hisamitsu et al. Gynecologic oncology 2019 Nov
• Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
  Griffin Natalie E et al. Gynecologic oncology 2019 Nov
• Lynch syndrome-related non-endometrioid endometrial cancer: analysis of outcomes.
  Bogani Giorgio et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2019 Nov
• Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing.
  Chun You Jin et al. PloS one 2019 14(11) e0224379
• X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies.
  Turk Bela R et al. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 Nov
• [Promoting regulated gene diagnosis for retinoblastoma in clinical work].
  Liang J H et al. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2019 Nov 55(11) 806-810
• An update on: molecular genetics of high-risk chronic lymphocytic leukemia.
  Moia Riccardo et al. Expert review of hematology 2019 Nov 1-8
• Enabling Precision Medicine for Rare Head and Neck Tumors: The Example of BRAF/MEK Targeting in Patients With Metastatic Ameloblastoma.
  Brunet Maxime et al. Frontiers in oncology 2019 91204
• Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
  Ruiz de Sabando Ainara et al. BMC cancer 2019 Nov 19(1) 1145
• Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793.
  et al. Obstetrics and gynecology 2019 Dec 134(6) 1366-1367
• Identification of Prognostic Biomarkers in the Urinary Peptidome of the Small Renal Mass.
  Di Meo Ashley et al. The American journal of pathology 2019 Dec 189(12) 2366-2376
• Machine learning-based multiparametric MRI radiomics for predicting the aggressiveness of papillary thyroid carcinoma.
  Wang Hao et al. European journal of radiology 2019 Nov 122108755
• Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea.
  Seo Jun Hyeong et al. Obstetrics & gynecology science 2019 Nov 62(6) 411-419
• Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
  Lerner-Ellis Jordan et al. Journal of medical genetics 2019 Nov
• Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
  Bianchi Paola et al. American journal of hematology 2019 94(1) 149-161
• Circulating Cell-Free miR-375 as Surrogate Marker of Tumor Burden in Merkel Cell Carcinoma.
  Fan Kaiji et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 24(23) 5873-5882