Arnold Munnich

发表

A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse

Anita Burgun-Parenthoine, Nicolas Garcelon, Bastien Rance, 2018, J. Biomed. Informatics.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

Anita Burgun-Parenthoine, Nicolas Garcelon, Antoine Neuraz, 2017, J. Biomed. Informatics.

A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model.

Arnold Munnich, Florent Barbault, A. Munnich, 2012, Human molecular genetics.

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron, Arnold Munnich, T. Bourgeron, 1995, Nature Genetics.

Germline deletion of the miR-1792 cluster causes growth and skeletal defects in humans

Patrick Callier, Laurence Faivre, Joana A. Vidigal, 2011 .

Correlation between severity and SMN protein level in spinal muscular atrophy

Arnold Munnich, A. Munnich, G. Dreyfuss, 1997, Nature Genetics.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α‐ketoglutarate dehydrogenase deficiency

Arnold Munnich, A. Munnich, P. Rustin, 2005, Human mutation.

Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis

Erika Salvi, Mohamad Saad, Eric Hachulla, 2011, PLoS genetics.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Yusuke Nakamura, Véronique Paquis-Flucklinger, Arnold Munnich, 2007, Nature Genetics.

Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2007, Blood.

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Nathalie Boddaert, Arnold Munnich, Richard Redon, 2007, American journal of human genetics.

MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression

Arnold Munnich, A. Munnich, J. Egly, 2011, Science.

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Nathalie Boddaert, Arnold Munnich, A. Munnich, 2012, Journal of Inherited Metabolic Disease.

Mutant WD-repeat protein in triple-A syndrome

Claude Mugnier, Arnold Munnich, Rémi Salomon, 2000, Nature Genetics.

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

Philippe Froguel, David Meyre, Arnold Munnich, 2009, American journal of human genetics.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

Arnold Munnich, A. Munnich, L. Ribeiro, 2003, Human Genetics.

Mutation in myosin heavy chain 6 causes atrial septal defect

Arnold Munnich, Leo S D Caves, Gloria Ribas, 2005, Nature Genetics.

TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.

Arnold Munnich, A. Smahi, A. Munnich, 2005, Human molecular genetics.

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Patrick Callier, Laurence Faivre, Joana A. Vidigal, 2011, Nature Genetics.

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2009, PloS one.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

Raja Brauner, Arnold Munnich, Rémi Salomon, 2000, European Journal of Human Genetics.

Academic Impairment is the Most Frequent Complication of Neurofibromatosis Type-1 (NF1) in Children

Arnold Munnich, A. Munnich, S. Lyonnet, 2006, Behavior genetics.

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X‐linked mental retardation syndrome

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2008, Human mutation.

Segregation at three loci explains familial and population risk in Hirschsprung disease

Misha Angrist, Arnold Munnich, Aravinda Chakravarti, 2002, Nature Genetics.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Arnold Munnich, Patrick Nitschke, Alice Goldenberg, 2012, American journal of human genetics.

Nuclear Outsourcing of RNA Interference Components to Human Mitochondria

Arnold Munnich, Silvia Rüberg, Nicolas Cagnard, 2011, PloS one.

SMN gene deletions in adult-onset spinal muscular atrophy

Arnold Munnich, A. Munnich, J. Melki, 1995, The Lancet.

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

Jean Weissenbach, Arnold Munnich, Martine Le Merrer, 1994, Nature Genetics.

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Axel Visel, Morad Ansari, Arnold Munnich, 2014, Human mutation.

Lamin A Truncation in Hutchinson-Gilford Progeria

Pierre Cau, Arnold Munnich, Colin L. Stewart, 2003, Science.

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Wolfgang Müller-Felber, Arnold Munnich, Laurence Hubert, 2010, Human mutation.

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Arnold Munnich, Martine Le Merrer, Valérie Belin, 1998, Nature Genetics.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Arnold Munnich, Martine Le Merrer, A. Munnich, 1994, Nature.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

Arnold Munnich, Michel Simonneau, François Guillemot, 2003, Human molecular genetics.

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Arnold Munnich, Eric Souied, A. Munnich, 1998, European Journal of Human Genetics.