Publications by authors named "Geoffrey Maher"

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Morphology combined with D-DISH ploidy analysis to diagnose partial hydatidiform mole: an evaluation audit using molecular genotyping.
Caroline M Joyce, Geoffrey J Maher, Susan Dineen, Nirosha Suraweera, Tommie V McCarthy

J Clin Pathol· April 2025

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Monitoring complete hydatidiform molar pregnancies after normalisation of human chorionic gonadotrophin: national retrospective population study.
Brenna E Swift, Leonoor Coopmans, Kam Singh, Christopher Coyle, Edmund H Wilkes, Geoffrey Maher

BMJ Med· January 2025

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Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
Maryam Rezaei, Manqi Liang, Zeynep Yalcin, Jacinta H Martin, Parinaz Kazemi, Geoffrey J Maher

J Clin Invest· November 2024

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When to Consult a Geneticist Specialising in Gestational Trophoblastic Disease.
Lesley McMahon, Geoffrey J Maher, Caroline Joyce, Isa Niemann, Rosemary Fisher

Gynecol Obstet Invest· June 2024

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Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.
Carla Bartosch, Alfons Nadal, Ana C Braga, Angela Salerno, Anne-Laure Rougemont, Geoffrey J Maher

Virchows Arch· March 2024

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Correction to: Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.
Carla Bartosch, Alfons Nadal, Ana C Braga, Angela Salerno, Anne-Laure Rougemont, Geoffrey J Maher

Virchows Arch· March 2024

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Epithelioid trophoblastic tumor with antecedent molar pregnancy in an HIV-positive patient.
Louisa Black, Alexandra Bowes, Michael Seckl, Geoffrey Maher, Baljeet Kaur

Clin Case Rep· March 2023

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Marie Bernkopf, Ummi B Abdullah, Stephen J Bush, Katherine A Wood, Sahar Ghaffari, Geoffrey J Maher

Nat Commun· February 2023

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Correction: ATR and CDK4/6 inhibition target the growth of methotrexate-resistant choriocarcinoma.
Marina Georgiou, Panagiota Ntavelou, William Stokes, Rajat Roy, Geoffrey J Maher

Oncogene· June 2022

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ATR and CDK4/6 inhibition target the growth of methotrexate-resistant choriocarcinoma.
Marina Georgiou, Panagiota Ntavelou, William Stokes, Rajat Roy, Geoffrey J Maher

Oncogene· April 2022

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Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours.
Geoffrey J Maher, Rosemary A Fisher, Baljeet Kaur, Xianne Aguiar, Preetha Aravind

NPJ Genom Med· April 2022

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Genetics of gestational trophoblastic disease.
Rosemary A Fisher, Geoffrey J Maher

Best Pract Res Clin Obstet Gynaecol· July 2021

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amplimap: a versatile tool to process and analyze targeted NGS data.
Nils Koelling, Marie Bernkopf, Eduardo Calpena, Geoffrey J Maher, Kerry A Miller

Bioinformatics· April 2020

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Teasing apart the multiple roles of Shp2 () in spermatogenesis.
Geoffrey J Maher, Anne Goriely

Asian J Androl· February 2020

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amplimap: a versatile tool to process and analyze targeted NGS data.
Nils Koelling, Marie Bernkopf, Eduardo Calpena, Geoffrey J Maher, Kerry A Miller

Bioinformatics· December 2019

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CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Nathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, Beatriz Sanchez-Pintado, Christina Zarouchlioti, Geoffrey J Maher

Genet Med· September 2019

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The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.
Geoffrey J Maher, Marie Bernkopf, Nils Koelling, Andrew O M Wilkie, Marvin L Meistrich

Hum Reprod· August 2019

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The adult human testis transcriptional cell atlas.
Jingtao Guo, Edward J Grow, Hana Mlcochova, Geoffrey J Maher, Cecilia Lindskog

Cell Res· December 2018

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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Geoffrey J Maher, Hannah K Ralph, Zhihao Ding, Nils Koelling, Hana Mlcochova

Genome Res· December 2018

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Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development.
Jingtao Guo, Edward J Grow, Chongil Yi, Hana Mlcochova, Geoffrey J Maher

Cell Stem Cell· October 2017

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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.
Eleni Giannoulatou, Geoffrey J Maher, Zhihao Ding, Ad J M Gillis, Lambert C J Dorssers

PLoS One· September 2017

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Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.
Geoffrey J Maher, Simon J McGowan, Eleni Giannoulatou, Clare Verrill, Anne Goriely

Proc Natl Acad Sci U S A· March 2016

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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Alice E Davidson, Petra Liskova, Cerys J Evans, Lubica Dudakova, Lenka Nosková, Geoffrey J Maher

Am J Hum Genet· January 2016

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
Eleni Giannoulatou, Gilean McVean, Indira B Taylor, Simon J McGowan, Geoffrey J Maher

Proc Natl Acad Sci U S A· December 2013

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Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men.
Jasmine Lim, Geoffrey J Maher, Gareth D H Turner, Wioleta Dudka-Ruszkowska, Stephen Taylor

PLoS One· January 2013

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