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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

Human mutation, 2008-05, Vol.29 (5), p.567-583

2008

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

Genetics in medicine, 2016-08, Vol.18 (8), p.823-832

2016

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Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Human mutation, 2018-11, Vol.39 (11), p.1581-1592

2018

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MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

Genetics in medicine, 2018-10, Vol.20 (10), p.1167-1174

2018

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Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

Hereditary cancer in clinical practice, 2019-07, Vol.17 (1), p.19-19, Article 19

2019

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

Journal of medical genetics, 2005-06, Vol.42 (6), p.e37-e37

2005

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Impedance characterization of wheat starch at various water contents

Powder technology, 2019-03, Vol.346, p.425-432

2019

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Methoxychlor-Induced Atresia in the Mouse Involves Bcl-2 Family Members, but Not Gonadotropins or Estradiol

Biology of reproduction, 2004-06, Vol.70 (6), p.1828-1835

2004

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Germline pathogenic variants identified in women with ovarian tumors

Gynecologic oncology, 2018-12, Vol.151 (3), p.481-488

2018

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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Human molecular genetics, 2024-04, Vol.33 (8), p.724-732

2024

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Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing

The Journal of molecular diagnostics : JMD, 2020-03, Vol.22 (3), p.396-404

2020

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Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

Clinical cancer research, 2022-09, Vol.28 (17), p.3742-3751

2022

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Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3121-3125

2022

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Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Neurology, 2008-03, Vol.70 (12), p.976

2008

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Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer

Familial cancer, 2022-10, Vol.21 (4), p.415-422

2022

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Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Cancer research (Chicago, Ill.), 2023-08, Vol.83 (15), p.2557-2571

2023

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Pathogenic Variants Identified in Women with Epithelial Ovarian Cancer Diagnosed Before Age 31 [35A]

Obstetrics and gynecology (New York. 1953), 2018-05, Vol.131 Suppl 1 (1), p.18S-18S

2018

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Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.208-212

2021

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Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis

Familial cancer, 2019-04, Vol.18 (2), p.203-209

2019

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Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels

Cancer genetics, 2022-08, Vol.266-267, p.86-89

2022

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Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing

Cancer genetics, 2020-08, Vol.246-247, p.12-17

2020

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Efforts Toward Consensus Variant Interpretation by Commercial Laboratories

Journal of clinical oncology, 2017-04, Vol.35 (11), p.1261-1262

2017

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Ancestry‐specific hereditary cancer panel yields: Moving toward more personalized risk assessment

Journal of genetic counseling, 2020-08, Vol.29 (4), p.598-606

2020

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Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis

Annals of surgical oncology, 2018-11, Vol.25 (12), p.3556-3562

2018

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Concurrent Pregnancy Retards Mammary Involution: Effects on Apoptosis and Proliferation of the Mammary Epithelium after Forced Weaning of Mice

Biology of reproduction, 2002-05, Vol.66 (5), p.1471-1476

2002

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls

Divergent phenotypes in Gaucher disease implicate the role of modifiers

Impedance characterization of wheat starch at various water contents

Methoxychlor-Induced Atresia in the Mouse Involves Bcl-2 Family Members, but Not Gonadotropins or Estradiol

Germline pathogenic variants identified in women with ovarian tumors

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing

Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay

Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

Pathogenic Variants Identified in Women with Epithelial Ovarian Cancer Diagnosed Before Age 31 [35A]

Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis

Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels

Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing

Efforts Toward Consensus Variant Interpretation by Commercial Laboratories

Ancestry‐specific hereditary cancer panel yields: Moving toward more personalized risk assessment

Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis

Concurrent Pregnancy Retards Mammary Involution: Effects on Apoptosis and Proliferation of the Mammary Epithelium after Forced Weaning of Mice

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