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51

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Mircsof, Dennis, Langouët, Maéva, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Bole-Feysot, Christine, Cagnard, Nicolas, Nitschke, Patrick, Gaspar, Ludmila, Žnidarič, Matej, Alibeu, Olivi

Journal:

Nature Neuroscience

Year:

2015

Language:

english

File:

PDF, 3.05 MB

english, 2015

52

Contiguous mutation syndrome in the era of high-throughput sequencing

Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M. S., Barouki, Robert, Amiel, Jeanne, Colleau

Journal:

Molecular Genetics & Genomic Medicine

Year:

2015

Language:

english

File:

PDF, 650 KB

english, 2015

53

Du séquençage haut débit au phénotype : intérêt majeur de l’examen fœtopathologique dans l’exploration des anomalies du corps calleux

Attie-Bitach, Tania, Alby, Caroline, Boutaud, Lucile, Malan, Valérie, Bahi-Buisson, Nadia, Ichkou, Amale, Ville, Yves, Bole-Feysot, Christine, Nitschke, Patrick, Thomas, Sophie, Razavi, Ferechté, Veke

Journal:

Year:

2015

Language:

french

File:

PDF, 136 KB

french, 2015

54

Refining the phenotype associated with CASC5 mutation

Saadi, Abdelkrim, Verny, Florine, Siquier-Pernet, Karine, Bole-Feysot, Christine, Nitschke, Patrick, Munnich, Arnold, Abada-Dendib, Myriam, Chaouch, Malika, Abramowicz, Marc, Colleaux, Laurence

Journal:

Year:

2016

Language:

english

File:

PDF, 527 KB

english, 2016

55

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

Lévy, Eva, Stolzenberg, Marie-Claude, Bruneau, Julie, Sylvain, Breton, Neven, Bénédicte, Sauvion, Sylvie, Zarhrate, Mohammed, Nitschké, Patrick, Fischer, Alain, Magérus-Chatinet, Aude, Quartier, Pierr

Journal:

Clinical Immunology

Year:

2016

Language:

english

File:

PDF, 1.03 MB

english, 2016

56

Multiple factors influence plant richness and diversity in the cold and dry boreal forest of southwest Yukon, Canada

Paudel, Shyam K., Waeber, Patrick O., Simard, Suzanne W., Innes, John L., Nitschke, Craig R.

Journal:

Year:

2016

Language:

english

File:

PDF, 588 KB

english, 2016

57

Association of a functional polymorphism in the CYP4A11 gene with systolic blood pressure in survivors of myocardial infarction

Mayer, Björn, Lieb, Wolfgang, Götz, Anika, König, Inke R, Kauschen, Lena F, Linsel-Nitschke, Patrick, Pomarino, Andrea, Holmer, Stephan, Hengstenberg, Christian, Doering, Angela, Loewel, Hannelore, He

Journal:

Journal of Hypertension

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

58

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability

Thevenon, Julien, Michot, Caroline, Bole, Christine, Nitschke, Patrick, Nizon, Mathilde, Faivre, Laurence, Munnich, Arnold, Lyonnet, Stanislas, Bonnefont, Jean-Paul, Portes, Vincent Des, Amiel, Jeanne

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 400 KB

english, 2015

59

An ecoclimatic framework for evaluating the resilience of vegetation to water deficit

Mitchell, Patrick J., O'Grady, Anthony P., Pinkard, Elizabeth A., Brodribb, Timothy J., Arndt, Stefan K., Blackman, Chris J., Duursma, Remko A., Fensham, Rod J., Hilbert, David W., Nitschke, Craig R.,

Journal:

Global Change Biology

Year:

2016

Language:

english

File:

PDF, 830 KB

english, 2016

60

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Guimier, Anne, Gordon, Christopher T., Godard, François, Ravenscroft, Gianina, Oufadem, Myriam, Vasnier, Christelle, Rambaud, Caroline, Nitschke, Patrick, Bole-Feysot, Christine, Masson, Cécile, Dauge

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.19 MB

english, 2016

61

Genetic variation in the arachidonate 5-lipoxygenase-activating protein ( ALOX5AP ) is associated with myocardial infarction in the German population

Linsel-Nitschke, Patrick, Götz, Anika, Medack, Anja, König, Inke R., Bruse, Petra, Lieb, Wolfgang, Mayer, Björn, Stark, Klaus, Hengstenberg, Christian, Fischer, Marcus, Baessler, Andrea, Ziegler, Andr

Journal:

Clinical Science

Year:

2008

Language:

english

File:

PDF, 98 KB

english, 2008

62

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Ranza, Emmanuelle, Huber, Céline, Levin, Nicolas, Baujat, Geneviève, Bole-Feysot, Christine, Nitschke, Patrick, Masson, Cécile, Alanay, Yasemin, Al-Gazali, Lihadh, Bitoun, Pierre, Boute, Odile, Campea

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.63 MB

english, 2016

63

Nutrient uptake and use efficiency in co-occurring plants along a disturbance and nutrient availability gradient in the boreal forests of the southwest Yukon, Canada

Nitschke, Craig R., Waeber, Patrick O., Klaassen, Jan W., Dordel, Julia, Innes, John L., Aponte, Cristina, Gilliam, Frank

Journal:

Journal of Vegetation Science

Year:

2016

Language:

english

File:

PDF, 609 KB

english, 2016

64

A human immunodeficiency caused by mutations in the PIK3R1 gene

Deau, Marie-Céline, Heurtier, Lucie, Frange, Pierre, Suarez, Felipe, Bole-Feysot, Christine, Nitschke, Patrick, Cavazzana, Marina, Picard, Capucine, Durandy, Anne, Fischer, Alain, Kracker, Sven

Journal:

Journal of Clinical Investigation

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

65

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

McInerney-Leo, Aideen M, Le Goff, Carine, Leo, Paul J, Kenna, Tony J, Keith, Patricia, Harris, Jessica E, Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matthew A, Zankl,

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.51 MB

english, 2016

66

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

Issa, Sarah, Bondurand, Nadege, Faubert, Emmanuelle, Poisson, Sylvain, Lecerf, Laure, Nitschke, Patrick, Deggouj, Naima, Loundon, Natalie, Jonard, Laurence, David, Albert, Sznajer, Yves, Blanchet, Pat

Journal:

Year:

2017

Language:

english

File:

PDF, 866 KB

english, 2017

67

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores,

Journal:

Journal of the American Society of Nephrology

Year:

2017

File:

PDF, 860 KB

2017

68

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick,

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 4.38 MB

english, 2017

69

The influence of climate and drought on urban tree growth in southeast Australia and the implications for future growth under climate change

Nitschke, Craig R., Nichols, Scott, Allen, Kathy, Dobbs, Cynnamon, Livesley, Stephen J., Baker, Patrick J., Lynch, Yvonne

Journal:

Landscape and Urban Planning

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

70

Erratum: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

Martin, Emmanuel, Palmic, Noé, Sanquer, Sylvia, Lenoir, Christelle, Hauck, Fabian, Mongellaz, Cédric, Fabrega, Sylvie, Nitschké, Patrick, Esposti, Mauro Degli, Schwartzentruber, Jeremy, Taylor, Naomi,

Journal:

Year:

2014

Language:

english

File:

PDF, 89 KB

english, 2014

71

Estimating the self-thinning line from mortality data

Trouvé, Raphaël, Nitschke, Craig R., Robinson, Andrew P., Baker, Patrick J.

Journal:

Forest Ecology and Management

Year:

2017

Language:

english

File:

PDF, 1.41 MB

english, 2017

72

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome

Guffroy, Aurélien, Mourot-Cottet, Rachel, Gérard, Laurence, Gies, Vincent, Lagresle, Chantal, Pouliet, Aurore, Nitschké, Patrick, Hanein, Sylvain, Bienvenu, Boris, Chanet, Valérie, Donadieu, Jean, Gar

Journal:

Journal of Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 1.14 MB

english, 2017

73

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Cavallin, Mara, Rujano, Maria A., Bednarek, Nathalie, Medina-Cano, Daniel, Bernabe Gelot, Antoinette, Drunat, Severine, Maillard, Camille, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Ben

Journal:

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

74

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

Gordon, Christopher T., Chopra, Maya, Oufadem, Myriam, Alibeu, Olivier, Bras, Marc, Boddaert, Nathalie, Bole-Feysot, Christine, Nitschké, Patrick, Abadie, Véronique, Lyonnet, Stanislas, Amiel, Jeanne

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 824 KB

english, 2017

75

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies

Ryan, Rebecca, Failler, Marion, Reilly, Madeline Louise, Garfa-Traore, Meriem, Delous, Marion, Filhol, Emilie, Reboul, Thérèse, Bole-Feysot, Christine, Nitschké, Patrick, Baudouin, Véronique, Amselem,

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.59 MB

english, 2018

76

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Drecourt, Anthony, Babdor, Joël, Dussiot, Michael, Petit, Floriane, Goudin, Nicolas, Garfa-Traoré, Meriem, Habarou, Florence, Bole-Feysot, Christine, Nitschké, Patrick, Ottolenghi, Chris, Metodiev, Me

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.29 MB

english, 2018

77

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

Louvrier, Camille, Pasmant, Eric, Briand-Suleau, Audrey, Cohen, Joëlle, Nitschké, Patrick, Nectoux, Juliette, Orhant, Lucie, Zordan, Cécile, Goizet, Cyril, Goutagny, Stéphane, Lallemand, Dominique, Vi

Journal:

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

78

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Lauren

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.75 MB

english, 2018

79

Rôle de miR-146a dans la différenciation et l’acquisition de l’identité neurale des cellules souches humaines : pertinence pour les troubles du spectre autistique

Nguyen, Lam Son, Fregeac, Julien, Bole-Feysot, Christine, Nitschke, Patrick, Pelle, Oliver, Colleaux, Laurence

Journal:

Year:

2017

Language:

french

File:

PDF, 54 KB

french, 2017

80

Online Repertoires of NGOs in the International Arena

Nitschke, Paula, Donges, Patrick

Journal:

Journal of Information Technology & Politics

Year:

2018

Language:

english

File:

PDF, 1.41 MB

english, 2018

81

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

Montaut, Solveig, Tranchant, Christine, Drouot, Nathalie, Rudolf, Gabrielle, Guissart, Claire, Tarabeux, Julien, Stemmelen, Tristan, Velt, Amandine, Fourrage, Cécile, Nitschké, Patrick, Gerard, Bénédi

Journal:

Year:

2018

Language:

english

File:

PDF, 445 KB

english, 2018

82

Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study

Linsel-Nitschke, Patrick, Götz, Anika, Erdmann, Jeanette, Braenne, Ingrid, Braund, Peter, Hengstenberg, Christian, Stark, Klaus, Fischer, Marcus, Schreiber, Stefan, El Mokhtari, Nour Eddine, Schaefer,

Journal:

Year:

2008

Language:

english

File:

PDF, 443 KB

english, 2008

83

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly

Cavallin, Mara, Maillard, Camille, Hully, Marie, Philbert, Marion, Boddaert, Nathalie, Reilly, Madeline Louise, Nitschké, Patrick, Bery, Amandine, Bahi-Buisson, Nadia

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 947 KB

english, 2018

84

Did the 1976–77 switch in the Pacific Decadal Oscillation make white spruce in the southwest Yukon more susceptible to spruce bark beetle?

Chavardès, Raphaël D., Daniels, Lori D., Waeber, Patrick O., Innes, John L., Nitschke, Craig R.

Journal:

The Forestry Chronicle

Year:

2012

File:

PDF, 692 KB

2012

85

A Humanized Mouse Model to Study Type 1 Diabetes

Sandrine, Luce, Sophie, Guinoiseau, Alexis, Gadault, Franck, Letourneur, Bertrand, Blondeau, Patrick, Nitschke, Eric, Pasmant, Michel, Vidaud, François, Lemonnier, Christian, Boitard

Journal:

Year:

2018

Language:

english

File:

PDF, 3.88 MB

english, 2018

86

DNA Memethylation Agents Promote Pancreatic Endodermal Differentiation of Mesenchymal Stem Cells

Sivanathan, Kisha, Manaph, Nimshitha Pavathuparambil Abdul, Nitschke, Jodie, Drogemuller, Chris, Zhou, Xin-Fu, Coates, Patrick T.

Journal:

Transplantation Journal

Year:

2018

Language:

english

File:

PDF, 87 KB

english, 2018

87

Genetic Causes of Myocardial Infarction

Erdmann, Jeanette, Linsel-Nitschke, Patrick, Schunkert, Heribert

Journal:

Deutsches "{A}rzteblatt international

Year:

2010

Language:

english

File:

PDF, 239 KB

english, 2010

88

Mutations in PERP Cause Dominant and Recessive Keratoderma

Duchatelet, Sabine, Boyden, Lynn M., Ishida-Yamamoto, Akemi, Zhou, Jing, Guibbal, Laure, Hu, Ronghua, Lim, Young H., Bole-Feysot, Christine, Nitschké, Patrick, Santos-Simarro, Fernando, de Lucas, Raul

Journal:

The Journal of Investigative Dermatology

Year:

2018

Language:

english

File:

PDF, 4.03 MB

english, 2018

89

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

Guimier, Anne, Gordon, Christopher T., Hully, Marie, Blauwblomme, Thomas, Minard‐Colin, Véronique, Bole‐Feysot, Christine, Nitschké, Patrick, Oufadem, Myriam, Boddaert, Nathalie, Sarnacki, Sabine, Ami

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.03 MB

english, 2019

90

Enantiopure [Cs+/Xe⊂Cryptophane]⊂FeII4L4 Hierarchical Superstructures

Zhang, Dawei, Ronson, Tanya K, Greenfield, Jake L., Brotin, Thierry, Berthault, Patrick, Leonce, Estelle, Zhu, Junlong, Xu, Lin, Nitschke, Jonathan R.

Journal:

Journal of the American Chemical Society

Year:

2019

Language:

english

File:

PDF, 2.85 MB

english, 2019

91

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

Dupont, Marie Alice, Humbert, Camille, Huber, Céline, Siour, Quentin, Guerrera, Ida Chiara, Jung, Vincent, Christensen, Anni, Pouliet, Aurore, Garfa-Traore, Meriem, Nitschké, Patrick, Injeyan, Marie,

Journal:

Human Molecular Genetics

Year:

2019

Language:

english

File:

PDF, 1.99 MB

english, 2019

92

Enantiopure [Cs+/Xe⊂Cryptophane]⊂FeII4L4 Hierarchical Superstructures

Zhang, Dawei, Ronson, Tanya K, Greenfield, Jake L., Brotin, Thierry, Berthault, Patrick, Leonce, Estelle, Zhu, Junlong, Xu, Lin, Nitschke, Jonathan R.

Journal:

Journal of the American Chemical Society

Year:

2019

File:

PDF, 2.85 MB

2019

93

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

Dupont, Marie Alice, Humbert, Camille, Huber, Céline, Siour, Quentin, Guerrera, Ida Chiara, Jung, Vincent, Christensen, Anni, Pouliet, Aurore, Garfa-Traore, Meriem, Nitschké, Patrick, Injeyan, Marie,

Journal:

Human Molecular Genetics

Year:

2019

File:

PDF, 1.99 MB

2019

94

Competition drives the decline of a dominant midstorey tree species. Habitat implications for an endangered marsupial

Trouvé, Raphaël, Nitschke, Craig R., Andrieux, Loic, Willersdorf, Tim, Robinson, Andrew P., Baker, Patrick J.

Journal:

Forest Ecology and Management

Year:

2019

Language:

english

File:

PDF, 740 KB

english, 2019

95

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Jeremiah, Nadia, Neven, Bénédicte, Gentili, Matteo, Callebaut, Isabelle, Maschalidi, Sophia, Stolzenberg, Marie-Claude, Goudin, Nicolas, Frémond, Marie-Louis, Nitschke, Patrick, Molina, Thierry J., Bl

Journal:

Journal of Clinical Investigation

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

96

Data quality and the Internet of Things

Liu, Caihua, Nitschke, Patrick, Williams, Susan P., Zowghi, Didar

Journal:

Year:

2019

Language:

english

File:

PDF, 604 KB

english, 2019

97

An overview on small molecule-induced differentiation of mesenchymal stem cells into beta cells for diabetic therapy

Pavathuparambil Abdul Manaph, Nimshitha, Sivanathan, Kisha N., Nitschke, Jodie, Zhou, Xin-Fu, Coates, Patrick T., Drogemuller, Christopher John

Journal:

Stem Cell Research & Therapy

Year:

2019

File:

PDF, 2.85 MB

2019

98

Properties of ApoA-I Milano

Linsel-Nitschke, Patrick, Tall, Alan R.

Journal:

Nature Reviews Drug Discovery

Year:

2005

File:

PDF, 34 KB

2005

99

Properties of ApoA-I Milano

Linsel-Nitschke, Patrick, Tall, Alan R.

Journal:

Nature Reviews Drug Discovery

Year:

2005

File:

PDF, 34 KB

2005

100

Loss‐of‐function mutations in NR4A2 cause dopa‐responsive dystonia Parkinsonism

Wirth, Thomas, Mariani, Louise Laure, Bergant, Gaber, Baulac, Michel, Habert, Marie‐Odile, Drouot, Nathalie, Ollivier, Emmanuelle, Hodžić, Alenka, Rudolf, Gorazd, Nitschke, Patrick, Rudolf, Gabrielle,

Journal:

Movement Disorders

Year:

2020

Language:

english

File:

PDF, 928 KB

english, 2020

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