Publications by authors named "Philip Schaefer"

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Elise Schaefer

J Med Genet· March 2025

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Structure and assembly of a bacterial gasdermin pore.
Alex G Johnson, Megan L Mayer, Stefan L Schaefer, Nora K McNamara-Bordewick, Gerhard Hummer

Nature· April 2024

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FDA Approval Summary: Olaparib in Combination With Abiraterone for Treatment of Patients With -Mutated Metastatic Castration-Resistant Prostate Cancer.
Jaleh Fallah, Jianjin Xu, Chana Weinstock, Michael H Brave, Erik Bloomquist, Timothy Schaefer

J Clin Oncol· February 2024

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Genetic targeting of Card19 is linked to disrupted NINJ1 expression, impaired cell lysis, and increased susceptibility to Yersinia infection.
Elisabet Bjanes, Reyna Garcia Sillas, Rina Matsuda, Benjamin Demarco, Timothée Fettrelet, Brian C Schaefer

PLoS Pathog· October 2021

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Growth charts in Kabuki syndrome 1.
Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu, Elise Schaefer

Am J Med Genet A· March 2020

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White Matter Integrity and Early Outcomes After Acute Ischemic Stroke.
Mark R Etherton, Ona Wu, Anne-Katrin Giese, Arne Lauer, Gregoire Boulouis, Pamela Schaefer

Transl Stroke Res· December 2019

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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
S Baer, A Afenjar, T Smol, A Piton, B Gérard, E Schaefer

Clin Genet· July 2018

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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Elise Schaefer

Am J Med Genet A· November 2016

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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
M Lefebvre, D Sanlaville, N Marle, C Thauvin-Robinet, E Gautier, E Schaefer

Clin Genet· May 2016

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Averting the Legacy of Kidney Disease: Focus on Childhood.
J R Ingelfinger, K Kalantar-Zadeh, F Schaefer

Int J Organ Transplant Med· May 2016

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Averting the legacy of kidney disease: focus on childhood.
Julie R Ingelfinger, Kamyar Kalantar-Zadeh, Franz Schaefer,

Curr Opin Nephrol Hypertens· May 2016

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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Elise Schaefer

Genet Med· January 2016

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HTLV-1 Tax Stimulates Ubiquitin E3 Ligase, Ring Finger Protein 8, to Assemble Lysine 63-Linked Polyubiquitin Chains for TAK1 and IKK Activation.
Yik-Khuan Ho, Huijun Zhi, Tara Bowlin, Batsukh Dorjbal, Subha Philip, Brian Schaefer

PLoS Pathog· August 2015

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New insights into genotype-phenotype correlation for GLI3 mutations.
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Elise Schaefer

Eur J Hum Genet· January 2015

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Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia.
Kheira Beldjord, Sylvie Chevret, Vahid Asnafi, Françoise Huguet, Marie-Laure Boulland, Beat Schaefer

Blood· June 2014

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Finger creases lend a hand in Kabuki syndrome.
Caroline Michot, Carole Corsini, Damien Sanlaville, Clarisse Baumann, Annick Toutain, Elise Schaefer

Eur J Med Genet· October 2013

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