Miriam Schmidts

Miriam Schmidts

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Miriam Schmidts

Miriam Schmidts

Publications by authors named "Miriam Schmidts"

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CiliaCarta: An integrated and validated compendium of ciliary genes.

Authors:
Teunis J P van Dam Julie Kennedy Robin van der Lee Erik de Vrieze Kirsten A Wunderlich Suzanne Rix Gerard W Dougherty Nils J Lambacher Chunmei Li Victor L Jensen Michel R Leroux Rim Hjeij Nicola Horn Yves Texier Yasmin Wissinger Jeroen van Reeuwijk Gabrielle Wheway Barbara Knapp Jan F Scheel Brunella Franco Dorus A Mans Erwin van Wijk François Képès Gisela G Slaats Grischa Toedt Hannie Kremer Heymut Omran Katarzyna Szymanska Konstantinos Koutroumpas Marius Ueffing Thanh-Minh T Nguyen Stef J F Letteboer Machteld M Oud Sylvia E C van Beersum Miriam Schmidts Philip L Beales Qianhao Lu Rachel H Giles Radek Szklarczyk Robert B Russell Toby J Gibson Colin A Johnson Oliver E Blacque Uwe Wolfrum Karsten Boldt Ronald Roepman Victor Hernandez-Hernandez Martijn A Huynen

PLoS One 2019 16;14(5):e0216705. Epub 2019 May 16.

Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0216705PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522010PMC
January 2020

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia.

Authors:
Jelle Vriend Janny G P Peters Tom T G Nieskens Renata Škovroňová Nina Blaimschein Miriam Schmidts Ronald Roepman Tom J J Schirris Frans G M Russel Rosalinde Masereeuw Martijn J Wilmer

Biochim Biophys Acta Gen Subj 2020 Jan 11;1864(1):129433. Epub 2019 Sep 11.

Department of Pharmacology and Toxicology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S03044165193021
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http://dx.doi.org/10.1016/j.bbagen.2019.129433DOI Listing
January 2020

Cilia in cystic kidney and other diseases.

Authors:
Gregory J Pazour Lynne Quarmby Abigail O Smith Paurav B Desai Miriam Schmidts

Cell Signal 2019 Dec 24:109519. Epub 2019 Dec 24.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cellsig.2019.109519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6953175PMC
December 2019

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Authors:
Stephanie Efthymiou Vincenzo Salpietro Nancy Malintan Mallory Poncelet Yamna Kriouile Sara Fortuna Rita De Zorzi Katelyn Payne Lindsay B Henderson Andrea Cortese Sateesh Maddirevula Nadia Alhashmi Sarah Wiethoff Mina Ryten Juan A Botia Vincenzo Provitera Markus Schuelke Jana Vandrovcova Laurence Walsh Erin Torti Valeria Iodice Maryam Najafi Ehsan Ghayoor Karimiani Reza Maroofian Karine Siquier-Pernet Nathalie Boddaert Pascale De Lonlay Vincent Cantagrel Mhammed Aguennouz Mohamed El Khorassani Miriam Schmidts Fowzan S Alkuraya Simon Edvardson Maria Nolano Jérôme Devaux Henry Houlden

Brain 2019 Oct;142(10):2948-2964

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1093/brain/awz248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763744PMC
October 2019

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive erebellar, cular, cranioacial and enital features (COFG syndrome).

Authors:
Abolfazl Rad Umut Altunoglu Rebecca Miller Reza Maroofian Kiely N James Ahmet Okay Çağlayan Maryam Najafi Valentina Stanley Rose-Mary Boustany Gözde Yeşil Afsaneh Sahebzamani Gülhan Ercan-Sencicek Kolsoum Saeidi Kaman Wu Peter Bauer Zeineb Bakey Joseph G Gleeson Natalie Hauser Murat Gunel Hulya Kayserili Miriam Schmidts

J Med Genet 2019 05 28;56(5):332-339. Epub 2018 Nov 28.

Genome Research Division, Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2018-105623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581149PMC
May 2019

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Authors:
Atteeq U Rehman Maryam Najafi Marios Kambouris Lihadh Al-Gazali Periklis Makrythanasis Abolfazl Rad Reza Maroofian Anna Rajab Zornitza Stark Jill V Hunter Zeineb Bakey Mari J Tokita Weimin He Francesco Vetrini Andrea Petersen Federico A Santoni Hanan Hamamy Kaman Wu Fatma Al-Jasmi Martin Helmstädter Sebastian J Arnold Fan Xia Christopher Richmond Pengfei Liu Ehsan Ghayoor Karimiani GholamReza Karami Madani Sebastian Lunke Hatem El-Shanti Christine M Eng Stylianos E Antonarakis Jozef Hertecant Magdalena Walkiewicz Yaping Yang Miriam Schmidts

Hum Mutat 2019 03 25;40(3):267-280. Epub 2018 Dec 25.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/humu.23694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370506PMC
March 2019

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East.

Authors:
Maryam Najafi Dor Mohammad Kordi Tamandani Anoush Azarfar Zeineb Bakey Farkhondeh Behjati Dinu Antony Isabel Schüle Simin Sadeghi-Bojd Ehsan Ghayoor Karimiani Miriam Schmidts

Front Pediatr 2019 21;7:89. Epub 2019 Mar 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

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https://www.frontiersin.org/article/10.3389/fped.2019.00089/
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http://dx.doi.org/10.3389/fped.2019.00089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437787PMC
March 2019

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Authors:
Anika Wehrle Tomasz M Witkos Sheila Unger Judith Schneider John A Follit Johannes Hermann Tim Welting Virginia Fano Marja Hietala Nithiwat Vatanavicharn Katharina Schoner Jürgen Spranger Miriam Schmidts Bernhard Zabel Gregory J Pazour Agnes Bloch-Zupan Gen Nishimura Andrea Superti-Furga Martin Lowe Ekkehart Lausch

JCI Insight 2019 Feb 7;4(3). Epub 2019 Feb 7.

Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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https://insight.jci.org/articles/view/124701
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http://dx.doi.org/10.1172/jci.insight.124701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413787PMC
February 2019

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Authors:
Maryam Najafi Dor Mohammad Kordi-Tamandani Farkhondeh Behjati Simin Sadeghi-Bojd Zeineb Bakey Ehsan Ghayoor Karimiani Isabel Schüle Anoush Azarfar Miriam Schmidts

Orphanet J Rare Dis 2019 02 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0981-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375149PMC
February 2019

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Authors:
Niki T Loges Dinu Antony Ales Maver Matthew A Deardorff Elif Yýlmaz Güleç Alper Gezdirici Tabea Nöthe-Menchen Inga M Höben Lena Jelten Diana Frank Claudius Werner Johannes Tebbe Kaman Wu Elizabeth Goldmuntz Goran Čuturilo Bryan Krock Alyssa Ritter Rim Hjeij Zeineb Bakey Petra Pennekamp Bernd Dworniczak Han Brunner Borut Peterlin Cansaran Tanidir Heike Olbrich Heymut Omran Miriam Schmidts

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288205PMC
December 2018

Editorial: Genetic Kidney Diseases of Childhood.

Authors:
Miriam Schmidts Max C Liebau

Front Pediatr 2018 19;6:409. Epub 2018 Dec 19.

Department of Pediatrics, University Hospital of Cologne, Cologne, Germany.

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http://dx.doi.org/10.3389/fped.2018.00409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305704PMC
December 2018

Expanding the clinical phenotype of IARS2-related mitochondrial disease.

Authors:
Barbara Vona Reza Maroofian Emanuele Bellacchio Maryam Najafi Kyle Thompson Ahmad Alahmad Langping He Najmeh Ahangari Abolfazl Rad Sima Shahrokhzadeh Paulina Bahena Falk Mittag Frank Traub Jebrail Movaffagh Nafise Amiri Mohammad Doosti Reza Boostani Ebrahim Shirzadeh Thomas Haaf Daria Diodato Miriam Schmidts Robert W Taylor Ehsan Ghayoor Karimiani

BMC Med Genet 2018 11 12;19(1):196. Epub 2018 Nov 12.

Genetics and Molecular Cell Sciences Research Centre, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0709-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233262PMC
November 2018

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Authors:
Reza Maroofian Isabel Schuele Maryam Najafi Zeineb Bakey Abolfazl Rad Dinu Antony Haleh Habibi Miriam Schmidts

Kidney Int Rep 2018 Nov 29;3(6):1454-1463. Epub 2018 Jul 29.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S24680249183016
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http://dx.doi.org/10.1016/j.ekir.2018.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224678PMC
November 2018

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Authors:
Asaf Ta-Shma Rim Hjeij Zeev Perles Gerard W Dougherty Ibrahim Abu Zahira Stef J F Letteboer Dinu Antony Alaa Darwish Dorus A Mans Sabrina Spittler Christine Edelbusch Sandra Cindrić Tabea Nöthe-Menchen Heike Olbrich Friederike Stuhlmann Isabella Aprea Petra Pennekamp Niki T Loges Oded Breuer Avraham Shaag Azaria J J T Rein Elif Yilmaz Gulec Alper Gezdirici Revital Abitbul Nael Elias Israel Amirav Miriam Schmidts Ronald Roepman Orly Elpeleg Heymut Omran

PLoS Genet 2018 08 27;14(8):e1007602. Epub 2018 Aug 27.

Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.

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http://dx.plos.org/10.1371/journal.pgen.1007602
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http://dx.doi.org/10.1371/journal.pgen.1007602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128653PMC
August 2018

Primary cilia-regulated transcriptome in the renal collecting duct.

Authors:
Sami G Mohammed Francisco J Arjona Eric H J Verschuren Zeineb Bakey Wynand Alkema Sacha van Hijum Miriam Schmidts René J M Bindels Joost G J Hoenderop

FASEB J 2018 07 8;32(7):3653-3668. Epub 2018 Feb 8.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1096/fj.201701228RDOI Listing
July 2018

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Authors:
Inga M Höben Rim Hjeij Heike Olbrich Gerard W Dougherty Tabea Nöthe-Menchen Isabella Aprea Diana Frank Petra Pennekamp Bernd Dworniczak Julia Wallmeier Johanna Raidt Kim G Nielsen Maria C Philipsen Francesca Santamaria Laura Venditto Israel Amirav Huda Mussaffi Freerk Prenzel Kaman Wu Zeineb Bakey Miriam Schmidts Niki T Loges Heymut Omran

Am J Hum Genet 2018 05;102(5):973-984

Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986731PMC
May 2018

High prevalence of p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Authors:
Amelia Shoemark Eduardo Moya Robert A Hirst Mitali P Patel Evelyn A Robson Jane Hayward Juliet Scully Mahmoud R Fassad William Lamb Miriam Schmidts Mellisa Dixon Ramila S Patel-King Andrew V Rogers Andrew Rutman Claire L Jackson Patricia Goggin Bruna Rubbo Sarah Ollosson Siobhán Carr Woolf Walker Beryl Adler Michael R Loebinger Robert Wilson Andrew Bush Hywel Williams Christopher Boustred Lucy Jenkins Eamonn Sheridan Eddie M K Chung Christopher M Watson Thomas Cullup Jane S Lucas Priti Kenia Christopher O'Callaghan Stephen M King Claire Hogg Hannah M Mitchison

Thorax 2018 02 8;73(2):157-166. Epub 2017 Aug 8.

Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/thoraxjnl-2017-209999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771957PMC
February 2018

Cellular ciliary phenotyping indicates pathogenicity of novel variants in and confirms a Mainzer-Saldino syndrome diagnosis.

Authors:
Machteld M Oud Brooke L Latour Zeineb Bakey Stef J Letteboer Dorien Lugtenberg Ka Man Wu Elisabeth A M Cornelissen Helger G Yntema Miriam Schmidts Ronald Roepman Ernie M H F Bongers

Cilia 2018 23;7. Epub 2018 Feb 23.

1Department of Human Genetics (855), Radboud University Medical Centre, PO-Box 9101, 6500 HB Nijmegen, The Netherlands.

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https://ciliajournal.biomedcentral.com/articles/10.1186/s136
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http://dx.doi.org/10.1186/s13630-018-0055-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247778PMC
February 2018

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Authors:
Dinu Antony Narayanan Nampoory Chiara Bacchelli Motasem Melhem Kaman Wu Chela T James Philip L Beales Mike Hubank Daisy Thomas Anant Mashankar Kazem Behbehani Miriam Schmidts Osama Alsmadi

Eur J Med Genet 2017 Dec 12;60(12):658-666. Epub 2017 Sep 12.

Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.019DOI Listing
December 2017

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

Authors:
Tamara Paff Niki T Loges Isabella Aprea Kaman Wu Zeineb Bakey Eric G Haarman Johannes M A Daniels Erik A Sistermans Natalija Bogunovic Gerard W Dougherty Inga M Höben Jörg Große-Onnebrink Anja Matter Heike Olbrich Claudius Werner Gerard Pals Miriam Schmidts Heymut Omran Dimitra Micha

Am J Hum Genet 2017 Jan 29;100(1):160-168. Epub 2016 Dec 29.

Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223094PMC
January 2017

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Authors:
Maleeha Maria Ideke J C Lamers Miriam Schmidts Muhammad Ajmal Sulman Jaffar Ehsan Ullah Bilal Mustafa Shakeel Ahmad Katia Nazmutdinova Bethan Hoskins Erwin van Wijk Linda Koster-Kamphuis Muhammad Imran Khan Phil L Beales Frans P M Cremers Ronald Roepman Maleeha Azam Heleen H Arts Raheel Qamar

Sci Rep 2016 10 6;6:34764. Epub 2016 Oct 6.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/srep34764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052523PMC
October 2016

Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet?

Authors:
Eric G Haarman Miriam Schmidts

Eur Respir J 2016 Mar;47(3):699-701

Human Genetics Dept, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1183/13993003.01914-2015DOI Listing
March 2016

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Authors:
Miriam Schmidts Yuqing Hou Claudio R Cortés Dorus A Mans Celine Huber Karsten Boldt Mitali Patel Jeroen van Reeuwijk Jean-Marc Plaza Sylvia E C van Beersum Zhi Min Yap Stef J F Letteboer S Paige Taylor Warren Herridge Colin A Johnson Peter J Scambler Marius Ueffing Hulya Kayserili Deborah Krakow Stephen M King Philip L Beales Lihadh Al-Gazali Carol Wicking Valerie Cormier-Daire Ronald Roepman Hannah M Mitchison George B Witman

Nat Commun 2016 Mar 29;7:11270. Epub 2016 Mar 29.

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http://dx.doi.org/10.1038/ncomms11270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820607PMC
March 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Authors:
Gabrielle Wheway Miriam Schmidts Dorus A Mans Katarzyna Szymanska Thanh-Minh T Nguyen Hilary Racher Ian G Phelps Grischa Toedt Julie Kennedy Kirsten A Wunderlich Nasrin Sorusch Zakia A Abdelhamed Subaashini Natarajan Warren Herridge Jeroen van Reeuwijk Nicola Horn Karsten Boldt David A Parry Stef J F Letteboer Susanne Roosing Matthew Adams Sandra M Bell Jacquelyn Bond Julie Higgins Ewan E Morrison Darren C Tomlinson Gisela G Slaats Teunis J P van Dam Lijia Huang Kristin Kessler Andreas Giessl Clare V Logan Evan A Boyle Jay Shendure Shamsa Anazi Mohammed Aldahmesh Selwa Al Hazzaa Robert A Hegele Carole Ober Patrick Frosk Aizeddin A Mhanni Bernard N Chodirker Albert E Chudley Ryan Lamont Francois P Bernier Chandree L Beaulieu Paul Gordon Richard T Pon Clem Donahue A James Barkovich Louis Wolf Carmel Toomes Christian T Thiel Kym M Boycott Martin McKibbin Chris F Inglehearn Fiona Stewart Heymut Omran Martijn A Huynen Panagiotis I Sergouniotis Fowzan S Alkuraya Jillian S Parboosingh A Micheil Innes Colin E Willoughby Rachel H Giles Andrew R Webster Marius Ueffing Oliver Blacque Joseph G Gleeson Uwe Wolfrum Philip L Beales Toby Gibson Dan Doherty Hannah M Mitchison Ronald Roepman Colin A Johnson

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Authors:
Miriam Schmidts Yuqing Hou Claudio R Cortés Dorus A Mans Celine Huber Karsten Boldt Mitali Patel Jeroen van Reeuwijk Jean-Marc Plaza Sylvia E C van Beersum Zhi Min Yap Stef J F Letteboer S Paige Taylor Warren Herridge Colin A Johnson Peter J Scambler Marius Ueffing Hulya Kayserili Deborah Krakow Stephen M King Philip L Beales Lihadh Al-Gazali Carol Wicking Valerie Cormier-Daire Ronald Roepman Hannah M Mitchison George B Witman

Nat Commun 2015 Jun 5;6:7074. Epub 2015 Jun 5.

Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.

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http://dx.doi.org/10.1038/ncomms8074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468853PMC
June 2015

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Authors:
Ranad Shaheen Miriam Schmidts Eissa Faqeih Amal Hashem Ekkehart Lausch Isabel Holder Andrea Superti-Furga Hannah M Mitchison Agaadir Almoisheer Rana Alamro Tarfa Alshiddi Fatma Alzahrani Philip L Beales Fowzan S Alkuraya

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddu555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321448PMC
March 2015

A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.

Authors:
Israel Amirav Huda Mussaffi Yehudah Roth Miriam Schmidts Heymut Omran Claudius Werner

BMC Res Notes 2015 Mar 8;8:71. Epub 2015 Mar 8.

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http://dx.doi.org/10.1186/s13104-015-0999-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4363456PMC
March 2015

Clinical genetics and pathobiology of ciliary chondrodysplasias.

Authors:
Miriam Schmidts

J Pediatr Genet 2014 Nov;3(2):46-94

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany ; Genetics and Genomics Medicine, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.3233/PGE-14089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262788PMC
November 2014

Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney.

Authors:
Jens H Westhoff Stefan Giselbrecht Miriam Schmidts Sebastian Schindler Philip L Beales Burkhard Tönshoff Urban Liebel Jochen Gehrig

PLoS One 2013 4;8(12):e82137. Epub 2013 Dec 4.

Department of Pediatrics I, University Children's Hospital, University of Heidelberg, Heidelberg, Germany ;

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082137PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852951PMC
September 2014

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

Authors:
Christine P Diggle Daniel J Moore Girish Mali Petra zur Lage Aouatef Ait-Lounis Miriam Schmidts Amelia Shoemark Amaya Garcia Munoz Mihail R Halachev Philippe Gautier Patricia L Yeyati David T Bonthron Ian M Carr Bruce Hayward Alexander F Markham Jilly E Hope Alex von Kriegsheim Hannah M Mitchison Ian J Jackson Bénédicte Durand Walter Reith Eamonn Sheridan Andrew P Jarman Pleasantine Mill

PLoS Genet 2014 Sep 18;10(9):e1004577. Epub 2014 Sep 18.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1004577DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168999PMC
September 2014

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Authors:
Alexandros Onoufriadis Amelia Shoemark Miriam Schmidts Mitali Patel Gina Jimenez Hui Liu Biju Thomas Mellisa Dixon Robert A Hirst Andrew Rutman Thomas Burgoyne Christopher Williams Juliet Scully Florence Bolard Jean-Jacques Lafitte Philip L Beales Claire Hogg Pinfen Yang Eddie M K Chung Richard D Emes Christopher O'Callaghan Patrice Bouvagnet Hannah M Mitchison

Hum Mol Genet 2014 Jul 11;23(13):3362-74. Epub 2014 Feb 11.

Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK

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http://dx.doi.org/10.1093/hmg/ddu046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049301PMC
July 2014

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Authors:
Alexandros Onoufriadis Amelia Shoemark Mustafa M Munye Chela T James Miriam Schmidts Mitali Patel Elisabeth M Rosser Chiara Bacchelli Philip L Beales Peter J Scambler Stephen L Hart Jeannette E Danke-Roelse John J Sloper Sarah Hull Claire Hogg Richard D Emes Gerard Pals Anthony T Moore Eddie M K Chung Hannah M Mitchison

J Med Genet 2014 Jan 7;51(1):61-7. Epub 2013 Nov 7.

Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2013-101938
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http://dx.doi.org/10.1136/jmedgenet-2013-101938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888613PMC
January 2014

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Authors:
Jan Halbritter Albane A Bizet Miriam Schmidts Jonathan D Porath Daniela A Braun Heon Yung Gee Aideen M McInerney-Leo Pauline Krug Emilie Filhol Erica E Davis Rannar Airik Peter G Czarnecki Anna M Lehman Peter Trnka Patrick Nitschké Christine Bole-Feysot Markus Schueler Bertrand Knebelmann Stéphane Burtey Attila J Szabó Kálmán Tory Paul J Leo Brooke Gardiner Fiona A McKenzie Andreas Zankl Matthew A Brown Jane L Hartley Eamonn R Maher Chunmei Li Michel R Leroux Peter J Scambler Shing H Zhan Steven J Jones Hülya Kayserili Beyhan Tuysuz Khemchand N Moorani Alexandru Constantinescu Ian D Krantz Bernard S Kaplan Jagesh V Shah Toby W Hurd Dan Doherty Nicholas Katsanis Emma L Duncan Edgar A Otto Philip L Beales Hannah M Mitchison Sophie Saunier Friedhelm Hildebrandt

Am J Hum Genet 2013 Nov 17;93(5):915-25. Epub 2013 Oct 17.

Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.09.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824130PMC
November 2013

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Authors:
Miriam Schmidts Julia Vodopiutz Sonia Christou-Savina Claudio R Cortés Aideen M McInerney-Leo Richard D Emes Heleen H Arts Beyhan Tüysüz Jason D'Silva Paul J Leo Tom C Giles Machteld M Oud Jessica A Harris Marije Koopmans Mhairi Marshall Nursel Elçioglu Alma Kuechler Detlef Bockenhauer Anthony T Moore Louise C Wilson Andreas R Janecke Matthew E Hurles Warren Emmet Brooke Gardiner Berthold Streubel Belinda Dopita Andreas Zankl Hülya Kayserili Peter J Scambler Matthew A Brown Philip L Beales Carol Wicking Emma L Duncan Hannah M Mitchison

Am J Hum Genet 2013 Nov 31;93(5):932-44. Epub 2013 Oct 31.

Molecular Medicine Unit and Birth Defect Research Centre, Institute of Child Health, University College London (UCL), London WC1N 1EH, UK. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824113PMC
November 2013

DYX1C1 is required for axonemal dynein assembly and ciliary motility.

Authors:
Aarti Tarkar Niki T Loges Christopher E Slagle Richard Francis Gerard W Dougherty Joel V Tamayo Brett Shook Marie Cantino Daniel Schwartz Charlotte Jahnke Heike Olbrich Claudius Werner Johanna Raidt Petra Pennekamp Marouan Abouhamed Rim Hjeij Gabriele Köhler Matthias Griese You Li Kristi Lemke Nikolas Klena Xiaoqin Liu George Gabriel Kimimasa Tobita Martine Jaspers Lucy C Morgan Adam J Shapiro Stef J F Letteboer Dorus A Mans Johnny L Carson Margaret W Leigh Whitney E Wolf Serafine Chen Jane S Lucas Alexandros Onoufriadis Vincent Plagnol Miriam Schmidts Karsten Boldt Ronald Roepman Maimoona A Zariwala Cecilia W Lo Hannah M Mitchison Michael R Knowles Rebecca D Burdine Joseph J Loturco Heymut Omran

Nat Genet 2013 Sep 21;45(9):995-1003. Epub 2013 Jul 21.

Department of Physiology and Neurobiology, University of Connecticut, Storrs, Connecticut, USA.

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http://dx.doi.org/10.1038/ng.2707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000444PMC
September 2013

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

Authors:
Aideen M McInerney-Leo Miriam Schmidts Claudio R Cortés Paul J Leo Blanca Gener Andrew D Courtney Brooke Gardiner Jessica A Harris Yeping Lu Mhairi Marshall Peter J Scambler Philip L Beales Matthew A Brown Andreas Zankl Hannah M Mitchison Emma L Duncan Carol Wicking

Am J Hum Genet 2013 Sep 1;93(3):515-23. Epub 2013 Aug 1.

The University of Queensland Diamantina Institute, Translational Research Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769922PMC
September 2013

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Authors:
Daniel J Moore Alexandros Onoufriadis Amelia Shoemark Michael A Simpson Petra I zur Lage Sandra C de Castro Lucia Bartoloni Giuseppe Gallone Stavroula Petridi Wesley J Woollard Dinu Antony Miriam Schmidts Teresa Didonna Periklis Makrythanasis Jeremy Bevillard Nigel P Mongan Jana Djakow Gerard Pals Jane S Lucas June K Marthin Kim G Nielsen Federico Santoni Michel Guipponi Claire Hogg Stylianos E Antonarakis Richard D Emes Eddie M K Chung Nicholas D E Greene Jean-Louis Blouin Andrew P Jarman Hannah M Mitchison

Am J Hum Genet 2013 Aug 25;93(2):346-56. Epub 2013 Jul 25.

Centre for Integrative Physiology, School of Biomedical Sciences, University of Edinburgh, George Square, Edinburgh EH8 9XD, UK.

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http://dx.doi.org/10.1016/j.ajhg.2013.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738835PMC
August 2013

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Authors:
Miriam Schmidts Valeska Frank Tobias Eisenberger Saeed Al Turki Albane A Bizet Dinu Antony Suzanne Rix Christian Decker Nadine Bachmann Martin Bald Tobias Vinke Burkhard Toenshoff Natalia Di Donato Theresa Neuhann Jane L Hartley Eamonn R Maher Radovan Bogdanović Amira Peco-Antić Christoph Mache Matthew E Hurles Ivana Joksić Marija Guć-Šćekić Jelena Dobricic Mirjana Brankovic-Magic Hanno J Bolz Gregory J Pazour Philip L Beales Peter J Scambler Sophie Saunier Hannah M Mitchison Carsten Bergmann

Hum Mutat 2013 May;34(5):714-24

Molecular Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/humu.22294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226634PMC
May 2013

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Authors:
Miriam Schmidts Heleen H Arts Ernie M H F Bongers Zhimin Yap Machteld M Oud Dinu Antony Lonneke Duijkers Richard D Emes Jim Stalker Jan-Bart L Yntema Vincent Plagnol Alexander Hoischen Christian Gilissen Elisabeth Forsythe Ekkehart Lausch Joris A Veltman Nel Roeleveld Andrea Superti-Furga Anna Kutkowska-Kazmierczak Erik-Jan Kamsteeg Nursel Elçioğlu Merel C van Maarle Luitgard M Graul-Neumann Koenraad Devriendt Sarah F Smithson Diana Wellesley Nienke E Verbeek Raoul C M Hennekam Hulya Kayserili Peter J Scambler Philip L Beales Nine Vam Knoers Ronald Roepman Hannah M Mitchison

J Med Genet 2013 May 1;50(5):309-23. Epub 2013 Mar 1.

Molecular Medicine Unit, Birth Defects Research Centre, University College London UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1136/jmedgenet-2012-101284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627132PMC
May 2013

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Authors:
Dinu Antony Anita Becker-Heck Maimoona A Zariwala Miriam Schmidts Alexandros Onoufriadis Mitra Forouhan Robert Wilson Theresa Taylor-Cox Ann Dewar Claire Jackson Patricia Goggin Niki T Loges Heike Olbrich Martine Jaspers Mark Jorissen Margaret W Leigh Whitney E Wolf M Leigh Anne Daniels Peadar G Noone Thomas W Ferkol Scott D Sagel Margaret Rosenfeld Andrew Rutman Abhijit Dixit Christopher O'Callaghan Jane S Lucas Claire Hogg Peter J Scambler Richard D Emes Eddie M K Chung Amelia Shoemark Michael R Knowles Heymut Omran Hannah M Mitchison

Hum Mutat 2013 Mar 11;34(3):462-72. Epub 2013 Feb 11.

Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/humu.22261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3630464PMC
March 2013

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

Authors:
Alexandros Onoufriadis Tamara Paff Dinu Antony Amelia Shoemark Dimitra Micha Bertus Kuyt Miriam Schmidts Stavroula Petridi Jeanette E Dankert-Roelse Eric G Haarman Johannes M A Daniels Richard D Emes Robert Wilson Claire Hogg Peter J Scambler Eddie M K Chung Gerard Pals Hannah M Mitchison

Am J Hum Genet 2013 Jan 20;92(1):88-98. Epub 2012 Dec 20.

Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542455PMC
January 2013

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

Authors:
Heike Olbrich Miriam Schmidts Claudius Werner Alexandros Onoufriadis Niki T Loges Johanna Raidt Nora Fanni Banki Amelia Shoemark Tom Burgoyne Saeed Al Turki Matthew E Hurles Gabriele Köhler Josef Schroeder Gudrun Nürnberg Peter Nürnberg Eddie M K Chung Richard Reinhardt June K Marthin Kim G Nielsen Hannah M Mitchison Heymut Omran

Am J Hum Genet 2012 Oct 27;91(4):672-84. Epub 2012 Sep 27.

Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2012.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484652PMC
October 2012

Role of the polarity protein Scribble for podocyte differentiation and maintenance.

Authors:
Björn Hartleben Eugen Widmeier Nicola Wanner Miriam Schmidts Sung Tae Kim Lisa Schneider Britta Mayer Dontscho Kerjaschki Jeffrey H Miner Gerd Walz Tobias B Huber

PLoS One 2012 7;7(5):e36705. Epub 2012 May 7.

Renal Division, University Hospital Freiburg, Freiburg, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3346764PMC
September 2012

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene.

Authors:
Sarah Catharina Grünert Miriam Schmidts Joachim Pohlenz Matthias Volkmar Kopp Markus Uhl Karl Otfried Schwab

Case Rep Pediatr 2011 21;2011:369871. Epub 2011 Dec 21.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1155/2011/369871DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350182PMC
August 2012

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Authors:
Michael R Knowles Margaret W Leigh Johnny L Carson Stephanie D Davis Sharon D Dell Thomas W Ferkol Kenneth N Olivier Scott D Sagel Margaret Rosenfeld Kimberlie A Burns Susan L Minnix Michael C Armstrong Adriana Lori Milan J Hazucha Niki T Loges Heike Olbrich Anita Becker-Heck Miriam Schmidts Claudius Werner Heymut Omran Maimoona A Zariwala

Thorax 2012 May 18;67(5):433-41. Epub 2011 Dec 18.

University of North Carolina, Cystic Fibrosis/Pulmonary Research and Treatment Center, School of Medicine, CB# 7248, 7123 Thurston-Bowles Bldg, Chapel Hill, NC 27599-7248, USA.

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http://dx.doi.org/10.1136/thoraxjnl-2011-200301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739700PMC
May 2012

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

Authors:
Jennifer R Panizzi Anita Becker-Heck Victoria H Castleman Dalal A Al-Mutairi Yan Liu Niki T Loges Narendra Pathak Christina Austin-Tse Eamonn Sheridan Miriam Schmidts Heike Olbrich Claudius Werner Karsten Häffner Nathan Hellman Rahul Chodhari Amar Gupta Albrecht Kramer-Zucker Felix Olale Rebecca D Burdine Alexander F Schier Christopher O'Callaghan Eddie M K Chung Richard Reinhardt Hannah M Mitchison Stephen M King Heymut Omran Iain A Drummond

Nat Genet 2012 May 13;44(6):714-9. Epub 2012 May 13.

Nephrology Division, Massachusetts General Hospital, Charlestown, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.2277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371652PMC
May 2012

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Authors:
Hannah M Mitchison Miriam Schmidts Niki T Loges Judy Freshour Athina Dritsoula Rob A Hirst Christopher O'Callaghan Hannah Blau Maha Al Dabbagh Heike Olbrich Philip L Beales Toshiki Yagi Huda Mussaffi Eddie M K Chung Heymut Omran David R Mitchell

Nat Genet 2012 Mar 4;44(4):381-9, S1-2. Epub 2012 Mar 4.

Molecular Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ng.1106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315610PMC
March 2012

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Authors:
Anne-Christine Merveille Erica E Davis Anita Becker-Heck Marie Legendre Israel Amirav Géraldine Bataille John Belmont Nicole Beydon Frédéric Billen Annick Clément Cécile Clercx André Coste Rachelle Crosbie Jacques de Blic Stephane Deleuze Philippe Duquesnoy Denise Escalier Estelle Escudier Manfred Fliegauf Judith Horvath Kent Hill Mark Jorissen Jocelyne Just Andreas Kispert Mark Lathrop Niki Tomas Loges June K Marthin Yukihide Momozawa Guy Montantin Kim G Nielsen Heike Olbrich Jean-François Papon Isabelle Rayet Gilles Roger Miriam Schmidts Henrique Tenreiro Jeffrey A Towbin Diana Zelenika Hanswalter Zentgraf Michel Georges Anne-Sophie Lequarré Nicholas Katsanis Heymut Omran Serge Amselem

Nat Genet 2011 Jan 5;43(1):72-8. Epub 2010 Dec 5.

Unit of Animal Genomics, Groupe Interdisciplinaire de Genomique Appliquee-Recherche (GIGA-R) and Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium.

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http://dx.doi.org/10.1038/ng.726DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509786PMC
January 2011

D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome.

Authors:
Sarah Grünert Miriam Schmidts Sybille Kenzel Jörn Oliver Sass Peter Greiner Martin Pohl Roland Hentschel

J Pediatr Gastroenterol Nutr 2010 Jan;50(1):106-7

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1097/MPG.0b013e3181c48cdeDOI Listing
January 2010

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Authors:
Niki Tomas Loges Heike Olbrich Anita Becker-Heck Karsten Häffner Angelina Heer Christina Reinhard Miriam Schmidts Andreas Kispert Maimoona A Zariwala Margaret W Leigh Michael R Knowles Hanswalter Zentgraf Horst Seithe Gudrun Nürnberg Peter Nürnberg Richard Reinhardt Heymut Omran

Am J Hum Genet 2009 Dec;85(6):883-9

Department of Paediatrics and Adolescent Medicine, University Hospital 79106 Freiburg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2009.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795801PMC
December 2009

Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.

Authors:
Tobias B Huber Matias Simons Björn Hartleben Leonie Sernetz Miriam Schmidts Enken Gundlach Moin A Saleem Gerd Walz Thomas Benzing

Hum Mol Genet 2003 Dec 21;12(24):3397-405. Epub 2003 Oct 21.

Renal Division, University Hospital Freiburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddg360DOI Listing
December 2003

Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling.

Authors:
Tobias B Huber Björn Hartleben Jeong Kim Miriam Schmidts Bernhard Schermer Alexander Keil Lotti Egger Rachel L Lecha Christoph Borner Hermann Pavenstädt Andrey S Shaw Gerd Walz Thomas Benzing

Mol Cell Biol 2003 Jul;23(14):4917-28

Renal Division. Molecular Medicine, University Hospital Freiburg, D-79106 Freiburg, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC162232PMC
http://dx.doi.org/10.1128/mcb.23.14.4917-4928.2003DOI Listing
July 2003

The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1.

Authors:
Tobias B Huber Miriam Schmidts Peter Gerke Bernhard Schermer Anne Zahn Björn Hartleben Lorenz Sellin Gerd Walz Thomas Benzing

J Biol Chem 2003 Apr 10;278(15):13417-21. Epub 2003 Feb 10.

Renal Division, University Hospital Freiburg, Hugstetter Str. 55, 79106 Freiburg, Germany.

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http://www.jbc.org/lookup/doi/10.1074/jbc.C200678200
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April 2003