​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​KPNC Authored Publications​, 2020 to December 2022

Genetics / Genomics

Management of ovarian and breast cancer risk in non-BRCA HBOC pathogenic variant carriers in a large California health care system [PubMed Abstract] Garcia, Christine; Hoodfar, Elizabeth; Karlea, Audrey; Kushi, Larry; Laurent, Cecile A; Lee, Jaimie; Powell, Bethan; Roh, Janise M | 12/1/2022 | Gynecologic Oncology

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT [PubMed Abstract] Mendelsohn, Bryce A | 11/1/2022 | Journal Of Inherited Metabolic Disease

The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry [PubMed Abstract] Bourguignon, Ann; Meyer, Paul B | 10/28/2022 | Blood Advances

Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies [PubMed Abstract] Tezcan, Kamer | 10/8/2022 | Human Molecular Genetics

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome [PubMed Abstract] Mendelsohn, Bryce A | 10/6/2022 | American Journal Of Human Genetics

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair [PubMed Abstract] Mendelsohn, Bryce A; Okenfuss, Ericka | 3/1/2022 | Molecular Genetics And Metabolism Reports

Electronic Family History Screening Tool for Detection of Inherited Cancer Risk: A Prospective Pilot Study [PubMed Abstract] Hoodfar E; Janes KL; Le A; Powell B; Valice E | |

Telomere maintenance variants and survival after colorectal cancer: Smoking- and sex-specific associations [PubMed Abstract] Sakoda LC | |

Smoking modifies pancreatic cancer risk loci on 2q21.3 [PubMed Abstract] Van_Den_Eeden S | |

A Polygenic Risk Score for Asthma in a Large Racially Diverse Population [PubMed Abstract] Iribarren C; Jorgenson E | |

Streamlining genetic testing for women with ovarian cancer in a Northern California health care system [PubMed Abstract] Garcia C; Han LY; Hoodfar E; Karlea A; Kushi L; Laurent CA; Lee J; Littell R; Powell B; Roh JM; Vay A | |

Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system [PubMed Abstract] Garcia C; Hoodfar E; Karlea A; Kushi L; Laurent CA; Lee J; Powell B; Roh JM | |

Variation in physician-directed immunohistochemistry screening among women with endometrial cancer [PubMed Abstract] Armstrong MA; Dontsi M; Hoodfar E; Powell B; Salyer CV | |

Comparison of two Lynch screening strategies in endometrial cancer in a California health system [PubMed Abstract] Armstrong MA; Dontsi M; Hoodfar E; Nguyen NT; Powell B; Salyer CV | |

Closing the gap: Identification and management of familial hypercholesterolemia in an integrated healthcare delivery system [PubMed Abstract] Avins AL; Birnbaum R; Brenman LM; Horton BH; Macapinlac BA | |

Implementation of a Multidisciplinary Expert Testicular Cancer Tumor Board Across a Large Integrated Healthcare Delivery System Via Early Case Ascertainment [PubMed Abstract] Alavi M; Altschuler A; Amsden LB; Brenman LM; De Mucha Flores AC; Harzstark AL; Herrinton L; Liu L; Presti JC; Ryken RR; Walker LC | |

Adjuvant endocrine therapy for breast cancer patients: impact of a health system outreach program to improve adherence [PubMed Abstract] Achacoso NS; Brenman LM; Fehrenbacher L; Habel L; Kushi L; Laurent CA; Lee C | |

Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting [PubMed Abstract] Bergoffen J; Carwana HE; Hoodfar E; Li D | |

Natural history of achondroplasia: A retrospective review of longitudinal clinical data [PubMed Abstract] Avins AL; Moghaddam BC; Okenfuss E | |

The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) [PubMed Abstract] Brenman LM | |

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy [PubMed Abstract] Kung AS; Malhotra A; Mendelsohn BA | |

Expanded Carrier Screening and the Complexity of Implementation [PubMed Abstract] Mendelsohn BA | |

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders [PubMed Abstract] Brenman LM | |

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study [PubMed Abstract] Mendelsohn BA | |

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer [PubMed Abstract] Eyal R; Mendelsohn BA | |

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders [PubMed Abstract] Brenman LM; Kellogg LK; Moghaddam BC | |

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling [PubMed Abstract] Tezcan K | |

Lifetime Impact of Achondroplasia: Current Evidence and Perspectives on the Natural History [PubMed Abstract] Okenfuss E | |

Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome [PubMed Abstract] Lipson M | |

Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes [PubMed Abstract] Okenfuss E | |