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Genetics of gestational trophoblastic disease

Best practice & research. Clinical obstetrics & gynaecology, 2021-07, Vol.74, p.29-41

2021

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Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

Cell stem cell, 2017-10, Vol.21 (4), p.533-546.e6

2017

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The adult human testis transcriptional cell atlas

Cell research, 2018-12, Vol.28 (12), p.1141-1157

2018

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Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis

Asian journal of andrology, 2020-01, Vol.22 (1), p.122-122

2020

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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Genome research, 2018-12, Vol.28 (12), p.1779

2018

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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline

PloS one, 2017-05, Vol.12 (5), p.e0178169-e0178169

2017

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Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

Proceedings of the National Academy of Sciences - PNAS, 2016-03, Vol.113 (9), p.2454-2459

2016

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CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

Genetics in medicine, 2019-09, Vol.21 (9), p.2092-2102

2019

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ATR and CDK4/6 inhibition target the growth of methotrexate-resistant choriocarcinoma

Oncogene, 2022-04, Vol.41 (18), p.2540-2554

2022

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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

American journal of human genetics, 2009-11, Vol.85 (5), p.581-592

2009

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amplimap: a versatile tool to process and analyze targeted NGS data

Bioinformatics (Oxford, England), 2019-12, Vol.35 (24), p.5349-5350

2019

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Proceedings of the National Academy of Sciences - PNAS, 2013-12, Vol.110 (50), p.20152-20157

2013

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Correction: ATR and CDK4/6 inhibition target the growth of methotrexate-resistant choriocarcinoma

Oncogene, 2022-06, Vol.41 (26), p.3510-3510

2022

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Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

Virchows Archiv : an international journal of pathology, 2024-03, Vol.484 (3), p.401-422

2024

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amplimap: a versatile tool to process and analyze targeted NGS data

Bioinformatics, 2020-04, Vol.36 (8), p.2643-2643

2020

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The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors

Human reproduction (Oxford), 2019-08, Vol.34 (8), p.1404-1415

2019

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Correction to: Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

Virchows Archiv : an international journal of pathology, 2024-03, Vol.484 (3), p.539-548

2024

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Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men

PloS one, 2012-08, Vol.7 (8), p.e42382-e42382

2012

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Epithelioid trophoblastic tumor with antecedent molar pregnancy in an HIV‐positive patient

Clinical case reports, 2023-03, Vol.11 (3), p.e7114-n/a

2023

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Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours

Npj genomic medicine, 2022-04, Vol.7 (1), p.26-26, Article 26

2022

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Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy

Investigative ophthalmology & visual science, 2011-06, Vol.52 (6), p.3730-3736

2011

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Focus on Molecules: Lens intrinsic membrane protein (LIM2/MP20)

Experimental eye research, 2012-10, Vol.103, p.115-116

2012

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The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

FEBS letters, 2011-07, Vol.585 (14), p.2187-2192

2011

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2022-RA-701-ESGO Elucidating mechanisms underlying methotrexate resistance via quantitative proteomics analysis of GTN patient samples and choriocarcinoma cell lines: a crucial role for serine metabolism

International journal of gynecological cancer, 2022-10, Vol.32 (Suppl 2), p.A421-A421

2022

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Genetics of gestational trophoblastic disease

Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

The adult human testis transcriptional cell atlas

Teasing apart the multiple roles of Shp2 (Ptpn11) in spermatogenesis

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

ATR and CDK4/6 inhibition target the growth of methotrexate-resistant choriocarcinoma

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

amplimap: a versatile tool to process and analyze targeted NGS data

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

Correction: ATR and CDK4/6 inhibition target the growth of methotrexate-resistant choriocarcinoma

Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

amplimap: a versatile tool to process and analyze targeted NGS data

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors

Correction to: Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles

Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men

Epithelioid trophoblastic tumor with antecedent molar pregnancy in an HIV‐positive patient

Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy

Focus on Molecules: Lens intrinsic membrane protein (LIM2/MP20)

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

2022-RA-701-ESGO Elucidating mechanisms underlying methotrexate resistance via quantitative proteomics analysis of GTN patient samples and choriocarcinoma cell lines: a crucial role for serine metabolism

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

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