​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​​KPNC Authored Publications​, 2022​ to December​ 2023

Genetics / Genomics

Risk of Gastric and Small Intestinal Cancer in Patients With Lynch syndrome - Data From a Large, Community-Based U.S. Population [PubMed Abstract] Carwana, Holly E; Jiang, Sheng-Fang; Li, Dan | 6/26/2024 | Clinical And Translational Gastroenterology

Queering Genomics: How Cisnormativity Undermines Genomic Science [PubMed Abstract] Berro, Tala | 4/17/2024 | Hgg Advances

Leisure time television watching, computer use and risks of breast, colorectal and prostate cancer: A Mendelian randomisation analysis [PubMed Abstract] Sakoda, Lori C | 12/28/2023 | Cancer Medicine

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants [PubMed Abstract] Van Den Eeden, Stephen | 12/1/2023 | Nature Genetics

Genome-wide interaction analysis of folate for colorectal cancer risk [PubMed Abstract] Sakoda, Lori C | 11/1/2023 | The American Journal Of Clinical Nutrition

Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves cross-ancestry prediction [PubMed Abstract] Van Den Eeden, Stephen | 10/30/2023 | Medrxiv : The Preprint Server For Health Sciences

Toward depathologizing queerness: An analysis of queer oppression in clinical genetics [PubMed Abstract] Berro, Tala | 10/25/2023 | Journal Of Genetic Counseling

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants [PubMed Abstract] Mendelsohn, Bryce A | 10/23/2023 | American Journal Of Medical Genetics. Part A

Evaluation of approaches to recruitment of racially and ethnically diverse breast Cancer patients from an integrated health care setting for collection of observational social network data [PubMed Abstract] Bethard-Tracy, Jane A; Brenman, Leslie M; Kurtovich, Elaine M; Shim, Veronica C; Adams, Alyce S; Aoki, Rhonda-Lee | 8/1/2023 | Cancer Causes & Control : Ccc

Genetic structure of major depression symptoms across clinical and community cohorts [PubMed Abstract] Hamilton, Steven P | 7/7/2023 | Medrxiv : The Preprint Server For Health Sciences

Germline Genetic Testing Among Women ≤ 45 Years of Age with Ductal Carcinoma In Situ Versus Invasive Breast Cancer in a Large Integrated Health Care System [PubMed Abstract] Brenman, Leslie M; Dzubnar, Jessica M; Hoodfar, Elizabeth; Karlea, Audrey; Shim, Veronica C; Habel, Laurel; Jiang, Sheng-Fang | 6/29/2023 | Annals Of Surgical Oncology

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype [PubMed Abstract] Mendelsohn, Bryce A | 6/1/2023 | American Journal Of Medical Genetics. Part A

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population [PubMed Abstract] Mendelsohn, Bryce A | 5/26/2023 | Npj Genomic Medicine

Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy [PubMed Abstract] Mendelsohn, Bryce A; Zimmerman, Bree | 5/1/2023 | American Journal Of Medical Genetics. Part A

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy [PubMed Abstract] Aycinena, Alicia P | 1/5/2023 | American Journal Of Human Genetics

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