S. Schmitt

发表

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

S. Küry, B. Dréno, S. Bézieau, 2009, Human mutation.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next‐generation sequencing

L. Faivre, C. Thauvin-Robinet, V. Probst, 2017, American journal of medical genetics. Part A.

Constitutional telomeric association (Y;7) in a patient with a female phenotype

C. Bénéteau, C. Le Caignec, A. David, 2013, American journal of medical genetics. Part A.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Acrodermatitis enteropathica: eine seltene dermatologische Differenzialdiagnose im Kindesalter – Erstbeschreibung zweier neuer Sequenzvarianten

S. Küry, A. Jung, U. Lippert, 2011 .

Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood – first description of a new sequence variant

S. Küry, C. Zouboulis, A. Jung, 2011, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.

S. Küry, T. Coşkun, M. Kılıç, 2012, JIMD reports.

Clinical utility gene card for: acrodermatitis enteropathica

S. Küry, S. Bézieau, S. Schmitt, 2011, European Journal of Human Genetics.

Clinical utility gene card for: acrodermatitis enteropathica – update 2015

S. Küry, S. Bézieau, S. Schmitt, 2015, European Journal of Human Genetics.

Tropical medicine rounds: Acrodermatitis enteropathica: a review of 29 Tunisian cases

H. Aounallah-Skhiri, S. Küry, S. Schmitt, 2010, International journal of dermatology.

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.

K. Méhes, B. Hamel, B. Hamel, 1995, Human molecular genetics.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

R. Touraine, L. Cuisset, H. Hamdi-Rozé, 2019, Prenatal diagnosis.

Molecular misdiagnosis in type 2B von Willebrand disease

S. Bézieau, P. Boisseau, É. Fressinaud, 2006, American journal of hematology.

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

E. Génin, C. Férec, M. Audrézet, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

R. Redon, C. Dina, R. Teusan, 2015, Human molecular genetics.

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

A. Kitzis, C. Férec, M. Audrézet, 2012, Prenatal diagnosis.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

S. Küry, C. Bénéteau, B. Cogné, 2016, European Journal of Human Genetics.

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)

S. Bézieau, J. Albuisson, S. Schmitt, 2012, European Journal of Human Genetics.

Clinical Zinc Deficiency as Early Presentation of Wilson Disease

S. Küry, S. Bézieau, S. Schmitt, 2015, Journal of pediatric gastroenterology and nutrition.

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels

S. Küry, J. Ocampo-Candiani, S. Schmitt, 2015, Pediatric dermatology.

Severe X‐linked chondrodysplasia punctata in nine new female fetuses

A. Toutain, J. Rivière, M. Gonzalès, 2015, Prenatal diagnosis.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

R. Valabrègue, P. Lebranchu, Y. Péréon, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature

A. Forabosco, D. Coviello, D. Shears, 2016, American journal of medical genetics. Part A.

Transient symptomatic zinc deficiency in a breast-fed infant: relevance of a genetic study.

S. Küry, S. Schmitt, M. Kamoun, 2011, Nutrition.

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Frédéric Sacher, Richard Redon, R. Redon, 2011, Journal of the American College of Cardiology.

A faster strategy for prenatal diagnosis of fragile X syndrome

S. Bézieau, P. Boisseau, S. Schmitt, 2010, Prenatal Diagnosis.

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation Found in a Patient with an Early‐Onset

S. Bézieau, S. Schmitt, Ó. Tellechea, 2011, Pediatric dermatology.

De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

R. Redon, J. Rosenfeld, C. Dina, 2016, Human mutation.