Publications by authors named "David FitzPatrick"

97Publications

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Authors:
Dervla M Connaughton Rufeng Dai Danielle J Owen Jonathan Marquez Nina Mann Adda L Graham-Paquin Makiko Nakayama Etienne Coyaud Estelle M N Laurent Jonathan R St-Germain Lot Snijders Blok Arianna Vino Verena Klämbt Konstantin Deutsch Chen-Han Wilfred Wu Caroline M Kolvenbach Franziska Kause Isabel Ottlewski Ronen Schneider Thomas M Kitzler Amar J Majmundar Florian Buerger Ana C Onuchic-Whitford Mao Youying Amy Kolb Daanya Salmanullah Evan Chen Amelie T van der Ven Jia Rao Hadas Ityel Steve Seltzsam Johanna M Rieke Jing Chen Asaf Vivante Daw-Yang Hwang Stefan Kohl Gabriel C Dworschak Tobias Hermle Mariëlle Alders Tobias Bartolomaeus Stuart B Bauer Michelle A Baum Eva H Brilstra Thomas D Challman Jacob Zyskind Carrie E Costin Katrina M Dipple Floor A Duijkers Marcia Ferguson David R Fitzpatrick Roger Fick Ian A Glass Peter J Hulick Antonie D Kline Ilona Krey Selvin Kumar Weining Lu Elysa J Marco Ingrid M Wentzensen Heather C Mefford Konrad Platzer Inna S Povolotskaya Juliann M Savatt Natalia V Shcherbakova Prabha Senguttuvan Audrey E Squire Deborah R Stein Isabelle Thiffault Victoria Y Voinova Michael J G Somers Michael A Ferguson Avram Z Traum Ghaleb H Daouk Ankana Daga Nancy M Rodig Paulien A Terhal Ellen van Binsbergen Loai A Eid Velibor Tasic Hila Milo Rasouly Tze Y Lim Dina F Ahram Ali G Gharavi Heiko M Reutter Heidi L Rehm Daniel G MacArthur Monkol Lek Kristen M Laricchia Richard P Lifton Hong Xu Shrikant M Mane Simone Sanna-Cherchi Andrew D Sharrocks Brian Raught Simon E Fisher Maxime Bouchard Mustafa K Khokha Shirlee Shril Friedhelm Hildebrandt

Am J Hum Genet 2020 Oct 4;107(4):727-742. Epub 2020 Sep 4.

Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536580PMC
October 2020

Interplay between cell-adhesion molecules governs synaptic wiring of cone photoreceptors.

Proc Natl Acad Sci U S A 2020 Sep 2;117(38):23914-23924. Epub 2020 Sep 2.

Department of Neuroscience, The Scripps Research Institute, Jupiter, FL 33458;

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http://dx.doi.org/10.1073/pnas.2009940117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519344PMC
September 2020

Recent advances in oomycete genomics.

Adv Genet 2020 25;105:175-228. Epub 2020 Apr 25.

Genome Evolution Laboratory, Department of Biology, Maynooth University, Maynooth, County Kildare, Ireland; Kathleen Lonsdale Institute for Human Health Research, Maynooth University, Maynooth, County Kildare, Ireland. Electronic address:

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http://dx.doi.org/10.1016/bs.adgen.2020.03.001DOI Listing
April 2020

Proteomic investigation of interhyphal interactions between strains of Agaricus bisporus.

Fungal Biol 2020 Jun 28;124(6):579-591. Epub 2020 Feb 28.

Department of Biology, Maynooth University, Maynooth, Co. Kildare, Ireland; Kathleen Lonsdale Institute for Human Health Research, Maynooth University, Maynooth, Co. Kildare, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.funbio.2020.02.011DOI Listing
June 2020

Experience-Dependent Reorganization Drives Development of a Binocularly Unified Cortical Representation of Orientation.

Neuron 2020 07 18;107(2):338-350.e5. Epub 2020 May 18.

Department of Functional Architecture and Development of Cerebral Cortex, Max Planck Florida Institute for Neuroscience, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2020.04.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381370PMC
July 2020

Genomically Aided Diagnosis of Severe Developmental Disorders.

Annu Rev Genomics Hum Genet 2020 Aug 18;21:327-349. Epub 2020 May 18.

Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom; email:

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http://dx.doi.org/10.1146/annurev-genom-120919-082329DOI Listing
August 2020

Comparative Genomic and Proteomic Analyses of Three Widespread Species: , and .

Microorganisms 2020 Apr 30;8(5). Epub 2020 Apr 30.

Department of Biology, Maynooth University, Maynooth, Co. Kildare W23 F2H6, Ireland.

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http://dx.doi.org/10.3390/microorganisms8050653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285336PMC
April 2020

FISHing in fungi: Visualisation of mushroom virus X in the mycelium of Agaricus bisporus by fluorescence in situ hybridisation.

J Microbiol Methods 2020 Jun 8;173:105913. Epub 2020 Apr 8.

Horticulture Development Department, Teagasc Food Research Centre, Ashtown, Dublin 15, D15 KN3K, Ireland.

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http://dx.doi.org/10.1016/j.mimet.2020.105913DOI Listing
June 2020

Cortical synaptic architecture supports flexible sensory computations.

Curr Opin Neurobiol 2020 Feb 20;64:41-45. Epub 2020 Feb 20.

Max Planck Florida Institute, 1 Max Planck Way, Jupiter, FL USA.

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http://dx.doi.org/10.1016/j.conb.2020.01.013DOI Listing
February 2020

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.

Eur J Hum Genet 2020 May 2;28(5):679-690. Epub 2020 Jan 2.

UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1038/s41431-019-0565-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171178PMC
May 2020

Characterisation of three novel β-1,3 glucanases from the medically important house dust mite Dermatophagoides pteronyssinus (airmid).

Insect Biochem Mol Biol 2019 12 11;115:103242. Epub 2019 Sep 11.

Department of Biology, Maynooth University, Maynooth, Co. Kildare, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.ibmb.2019.103242DOI Listing
December 2019

Functional Logic of Layer 2/3 Inhibitory Connectivity in the Ferret Visual Cortex.

Neuron 2019 11 5;104(3):451-457.e3. Epub 2019 Sep 5.

Max Planck Florida Institute for Neuroscience, 1 Max Planck Way, Jupiter, FL 33458, USA.

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http://dx.doi.org/10.1016/j.neuron.2019.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842115PMC
November 2019

Whole Genome Sequence of the Commercially Relevant Mushroom Strain var. ARP23.

G3 (Bethesda) 2019 10 7;9(10):3057-3066. Epub 2019 Oct 7.

Genome Evolution Laboratory, Department of Biology, Maynooth University, Maynooth, Co. Kildare, Ireland,

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http://dx.doi.org/10.1534/g3.119.400563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778795PMC
October 2019

Anophthalmia including next-generation sequencing-based approaches.

Eur J Hum Genet 2020 Mar 29;28(3):388-398. Epub 2019 Jul 29.

UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1038/s41431-019-0479-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029013PMC
March 2020

Insights into the transcriptomic response of the plant engineering bacterium Ensifer adhaerens OV14 during transformation.

Sci Rep 2019 07 17;9(1):10344. Epub 2019 Jul 17.

Department of Crop Science, Teagasc Crops Research Centre, Oak Park, Carlow, Ireland.

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http://dx.doi.org/10.1038/s41598-019-44648-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637203PMC
July 2019

Pangloss: A Tool for Pan-Genome Analysis of Microbial Eukaryotes.

Genes (Basel) 2019 07 10;10(7). Epub 2019 Jul 10.

Genome Evolution Laboratory, Department of Biology, Maynooth University, W23 F2K8 Maynooth, Co. Kildare, Ireland.

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http://dx.doi.org/10.3390/genes10070521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678930PMC
July 2019

Pan-genome analyses of model fungal species.

Microb Genom 2019 02 4;5(2). Epub 2019 Feb 4.

1​Genome Evolution Laboratory, Department of Biology, Maynooth University, Maynooth, Co. Kildare, Ireland.

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http://dx.doi.org/10.1099/mgen.0.000243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421352PMC
February 2019

The Magical Horizontal Force Muscle? A Preliminary Study Examining the "Force-Vector" Theory.

Sports (Basel) 2019 Jan 22;7(2). Epub 2019 Jan 22.

Research conducted at School of Sport, Health and Applied Science, St. Mary's University, Twickenham, London, UK.

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http://dx.doi.org/10.3390/sports7020030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409580PMC
January 2019

Functional Synaptic Architecture of Callosal Inputs in Mouse Primary Visual Cortex.

Neuron 2019 02 15;101(3):421-428.e5. Epub 2019 Jan 15.

Max Planck Florida Institute for Neuroscience, Jupiter, FL 33458, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273183108
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http://dx.doi.org/10.1016/j.neuron.2018.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012385PMC
February 2019

Evolutionary, structural and functional analysis of the caleosin/peroxygenase gene family in the Fungi.

BMC Genomics 2018 Dec 28;19(1):976. Epub 2018 Dec 28.

Genomics and Computational Biology Research Group, University of South Wales, Pontypridd, CF37 1DL, UK.

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http://dx.doi.org/10.1186/s12864-018-5334-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309107PMC
December 2018

Comparative Analysis of Oomycete Genome Evolution Using the Oomycete Gene Order Browser (OGOB).

Genome Biol Evol 2019 01 1;11(1):189-206. Epub 2019 Jan 1.

Genome Evolution Laboratory, Department of Biology, Maynooth University, Co. Kildare, Ireland.

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https://academic.oup.com/gbe/advance-article/doi/10.1093/gbe
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http://dx.doi.org/10.1093/gbe/evy267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330052PMC
January 2019

Distributed network interactions and their emergence in developing neocortex.

Nat Neurosci 2018 11 22;21(11):1600-1608. Epub 2018 Oct 22.

Frankfurt Institute for Advanced Studies, Frankfurt, Germany.

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http://www.nature.com/articles/s41593-018-0247-5
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http://dx.doi.org/10.1038/s41593-018-0247-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371984PMC
November 2018

The genetic architecture of aniridia and Gillespie syndrome.

Hum Genet 2019 Sep 22;138(8-9):881-898. Epub 2018 Sep 22.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1007/s00439-018-1934-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710220PMC
September 2019

Differential tuning of excitation and inhibition shapes direction selectivity in ferret visual cortex.

Nature 2018 08 25;560(7716):97-101. Epub 2018 Jul 25.

Max Planck Florida Institute for Neuroscience, Jupiter, FL, USA.

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http://dx.doi.org/10.1038/s41586-018-0354-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946183PMC
August 2018

Stereotactic radiosurgery to surgical cavity post resection of brain metastases: Local recurrence and overall survival rates. A single-centre experience.

J Med Imaging Radiat Oncol 2018 Oct 25;62(5):726-733. Epub 2018 Jul 25.

St. Luke's Radiation Oncology Network, Beaumont Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/1754-9485.12777DOI Listing
October 2018

The effect of entomopathogenic fungal culture filtrate on the immune response and haemolymph proteome of the large pine weevil, Hylobius abietis.

Insect Biochem Mol Biol 2018 10 17;101:1-13. Epub 2018 Jul 17.

Department of Biology, Maynooth University, Maynooth, Co. Kildare, Ireland.

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http://dx.doi.org/10.1016/j.ibmb.2018.07.001DOI Listing
October 2018

Critcomms: a national cross-sectional questionnaire based study to investigate prehospital handover practices between ambulance clinicians and specialist prehospital teams in Scotland.

Scand J Trauma Resusc Emerg Med 2018 Jun 1;26(1):45. Epub 2018 Jun 1.

Emergency Medical Retrieval Service, School of Medicine, Dentistry and Nursing, University of Glasgow, Wolfson Medical School Building, G12 8QQ, Glasgow, Scotland.

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https://sjtrem.biomedcentral.com/articles/10.1186/s13049-018
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http://dx.doi.org/10.1186/s13049-018-0512-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984735PMC
June 2018

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

Pediatrics 2018 04;141(Suppl 5):S485-S490

Department of Pediatric Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1542/peds.2017-0026DOI Listing
April 2018

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

J Am Coll Cardiol 2018 03;71(11):1217-1227

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.01.030DOI Listing
March 2018

Paediatric genomics: diagnosing rare disease in children.

Nat Rev Genet 2018 05 19;19(5):325. Epub 2018 Feb 19.

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http://dx.doi.org/10.1038/nrg.2018.12DOI Listing
May 2018

Paediatric genomics: diagnosing rare disease in children.

Nat Rev Genet 2018 05 5;19(5):253-268. Epub 2018 Feb 5.

Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1038/nrg.2017.116DOI Listing
May 2018

Distribution and diversity of intrinsically photosensitive retinal ganglion cells in tree shrew.

J Comp Neurol 2019 01 26;527(1):328-344. Epub 2017 Dec 26.

Neurobiology Department, Duke University School of Medicine, Durham, North Carolina.

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http://doi.wiley.com/10.1002/cne.24377
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http://dx.doi.org/10.1002/cne.24377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002948PMC
January 2019

Genomic, Network, and Phylogenetic Analysis of the Oomycete Effector Arsenal.

mSphere 2017 Nov-Dec;2(6). Epub 2017 Nov 22.

Department of Biology, Genome Evolution Laboratory, Maynooth University, Maynooth, Co. Kildare, Ireland.

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http://dx.doi.org/10.1128/mSphere.00408-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700374PMC
November 2017

Multiple Approaches to Phylogenomic Reconstruction of the Fungal Kingdom.

Adv Genet 2017 6;100:211-266. Epub 2017 Nov 6.

Maynooth University, Maynooth, County Kildare, Ireland. Electronic address:

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http://dx.doi.org/10.1016/bs.adgen.2017.09.006DOI Listing
July 2018

Preparation of morselised bone for impaction grafting using a blender method.

J Mech Behav Biomed Mater 2018 02 9;78:91-95. Epub 2017 Nov 9.

School of Mechanical and Materials Engineering, University College Dublin, Belfield, Dublin 4, Ireland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17516161173050
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http://dx.doi.org/10.1016/j.jmbbm.2017.11.012DOI Listing
February 2018

The use of hardened bone cement as an impaction grafting extender for revision hip arthroplasty.

J Mech Behav Biomed Mater 2018 02 13;78:82-90. Epub 2017 Nov 13.

School of Mechanical and Materials Engineering, University College Dublin, Belfield, Dublin 4, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.jmbbm.2017.11.002DOI Listing
February 2018

Local Order within Global Disorder: Synaptic Architecture of Visual Space.

Neuron 2017 Dec 2;96(5):1127-1138.e4. Epub 2017 Nov 2.

Max Planck Florida Institute for Neuroscience, 1 Max Planck Way, Jupiter, FL 33458, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.10.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868972PMC
December 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

The effect of entomopathogenic fungal culture filtrate on the immune response of the greater wax moth, Galleria mellonella.

J Insect Physiol 2017 07 22;100:82-92. Epub 2017 May 22.

Department of Biology, Maynooth University, Maynooth, Kildare, Ireland.

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http://dx.doi.org/10.1016/j.jinsphys.2017.05.009DOI Listing
July 2017

Phylogenomic Reconstruction of the Oomycete Phylogeny Derived from 37 Genomes.

mSphere 2017 Mar-Apr;2(2). Epub 2017 Apr 12.

Department of Biology, Genome Evolution Laboratory, Maynooth University, Maynooth, Co. Kildare, Ireland.

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http://msphere.asm.org/lookup/doi/10.1128/mSphere.00095-17
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http://dx.doi.org/10.1128/mSphere.00095-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390094PMC
April 2017

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

Am J Med Genet A 2017 Jun 19;173(6):1566-1574. Epub 2017 Apr 19.

Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.38228DOI Listing
June 2017

Resequencing at scale in neurodevelopmental disorders.

Nat Genet 2017 Mar;49(4):488-489

MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1038/ng.3827DOI Listing
March 2017

Returning genome sequences to research participants: Policy and practice.

Wellcome Open Res 2017 Feb 24;2:15. Epub 2017 Feb 24.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.10942.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351846PMC
February 2017