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Transitioning from egg to embryo: Triggers and mechanisms of egg activation

Developmental dynamics, 2008-03, Vol.237 (3), p.527-544

2008

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Needle in a haystack or elephant in the room? Identifying germline predisposition syndromes in the setting of a new myeloid malignancy diagnosis

Leukemia, 2023-08, Vol.37 (8), p.1589-1599

2023

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Calcium waves occur as Drosophila oocytes activate

Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (3), p.791-796

2015

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A survey of chromosomal instability measures across mechanistic models

Proceedings of the National Academy of Sciences - PNAS, 2024-04, Vol.121 (16), p.e2309621121

2024

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Postmortem genetic testing in sudden unexplained death: A public health laboratory experience

Journal of forensic sciences, 2023-11, Vol.68 (6), p.2065-2075

2023

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Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway

Nature communications, 2023-06, Vol.14 (1), p.3801-3801, Article 3801

2023

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Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-05, Vol.25 (5), p.100017-100017, Article 100017

2023

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Mechanical stimulation by osmotic and hydrostatic pressure activates Drosophila oocytes in vitro in a calcium-dependent manner

Developmental biology, 2008-04, Vol.316 (1), p.100-109

2008

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Protein phosphorylation changes reveal new candidates in the regulation of egg activation and early embryogenesis in D. melanogaster

Developmental biology, 2012-10, Vol.370 (1), p.125-134

2012

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Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2022-02, Vol.24 (2), p.255-261

2022

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Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)

Genetics in medicine, 2019-09, Vol.21 (9), p.1903-1916

2019

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A "Null" Pattern of p16 Immunostaining in Endometrial Serous Carcinoma: An Under-recognized and Important Aberrant Staining Pattern

International journal of gynecological pathology, 2022-07, Vol.41 (4), p.378

2022

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SeqAnt: a web service to rapidly identify and annotate DNA sequence variations

BMC bioinformatics, 2010-09, Vol.11 (1), p.471-471, Article 471

2010

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Chromosomal instability upregulates interferon in acute myeloid leukemia

Genes chromosomes & cancer, 2020-11, Vol.59 (11), p.627-638

2020

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Wispy, the Drosophila homolog of GLD-2, is required during oogenesis and egg activation

Genetics (Austin), 2008-04, Vol.178 (4), p.2017-2029

2008

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P521: Application of long read whole genome sequencing to elucidate the molecular etiology of a patient with diagnostic odyssey

Genetics in Medicine Open, 2023, Vol.1 (1), p.100568, Article 100568

2023

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P606: Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program

Genetics in Medicine Open, 2024, Vol.2, p.101512

2024

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Analytical Validation of Familial Hypercholesterolemia Biomarkers in Dried Blood Spots

International journal of neonatal screening, 2022-02, Vol.8 (1), p.14

2022

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Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b hnn stems from abnormal Shh signaling

Developmental biology, 2011-07, Vol.355 (1), p.43-54

2011

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Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13bʰⁿⁿ stems from abnormal Shh signaling

Developmental biology, 2011-04, Vol.355 (1), p.43-54

2011

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Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities

Genetics in medicine, 2013-09, Vol.15 (9), p.706-712

2013

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The Drosophila Calcipressin Sarah Is Required for Several Aspects of Egg Activation

Current biology, 2006-07, Vol.16 (14), p.1441-1446

2006

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Creating a "hopeful monster": mouse forward genetic screens

Methods in molecular biology (Clifton, N.J.), 2011, Vol.770, p.313

2011

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Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b stems from abnormal Shh signaling

Developmental biology, 2011-07, Vol.355 (1), p.43-54

2011

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Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse

G3 : genes - genomes - genetics, 2012-01, Vol.2 (1), p.143-150

2012

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Transitioning from egg to embryo: Triggers and mechanisms of egg activation

Needle in a haystack or elephant in the room? Identifying germline predisposition syndromes in the setting of a new myeloid malignancy diagnosis

Calcium waves occur as Drosophila oocytes activate

A survey of chromosomal instability measures across mechanistic models

Postmortem genetic testing in sudden unexplained death: A public health laboratory experience

Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Mechanical stimulation by osmotic and hydrostatic pressure activates Drosophila oocytes in vitro in a calcium-dependent manner

Protein phosphorylation changes reveal new candidates in the regulation of egg activation and early embryogenesis in D. melanogaster

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

A "Null" Pattern of p16 Immunostaining in Endometrial Serous Carcinoma: An Under-recognized and Important Aberrant Staining Pattern

SeqAnt: a web service to rapidly identify and annotate DNA sequence variations

Chromosomal instability upregulates interferon in acute myeloid leukemia

Wispy, the Drosophila homolog of GLD-2, is required during oogenesis and egg activation

P521: Application of long read whole genome sequencing to elucidate the molecular etiology of a patient with diagnostic odyssey

P606: Finding answers for clinical exome-negative patients: The University of Wisconsin Undiagnosed Disease Program

Analytical Validation of Familial Hypercholesterolemia Biomarkers in Dried Blood Spots

Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b hnn stems from abnormal Shh signaling

Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13bʰⁿⁿ stems from abnormal Shh signaling

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities

The Drosophila Calcipressin Sarah Is Required for Several Aspects of Egg Activation

Creating a "hopeful monster": mouse forward genetic screens

Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b stems from abnormal Shh signaling

Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse

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