F. Dastot‐Le Moal

发表

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

A. Munnich, S. Antonarakis, N. Katsanis, 2007, Human mutation.

Mosaic variants in TNFRSF1A: An emerging cause of tumor necrosis factor receptor-associated periodic syndrome.

S. Amselem, B. Copin, M. Legendre, 2022, Rheumatology.

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

S. Amselem, A. Clément, B. Copin, 2015, American journal of human genetics.

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

S. Amselem, A. Clément, B. Copin, 2012, American journal of human genetics.

ZFHX1B mutations in patients with Mowat‐Wilson syndrome

Meredith Wilson, M. Goossens, N. Collot, 2007, Human mutation.

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

W. Reardon, R. Touraine, A. Toutain, 2007, American journal of human genetics.

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

S. Amselem, E. Escudier, A. Bridoux, 2002, American journal of respiratory cell and molecular biology.

Review and update of mutations causing Waardenburg syndrome

M. Goossens, S. Marlin, V. Pingault, 2010, Human mutation.

Mutations in GAS8, a Gene Encoding a Nexin‐Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization

S. Amselem, A. Clément, I. Sermet-Gaudelus, 2016, Human mutation.

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

S. Amselem, N. Collot, M. Legendre, 2012, European journal of endocrinology.

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

B. Housset, S. Amselem, R. Epaud, 2013, American journal of human genetics.

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

Dian Donnai, Cynthia Curry, Helena Kääriäinen, 2003, American journal of medical genetics. Part A.

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

P. Czernichow, J. Pantel, S. Amselem, 2001, American journal of human genetics.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

S. Amselem, L. Gouya, A. Clément, 2016, Human molecular genetics.

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

S. Amselem, B. Crestani, B. Copin, 2016, American journal of human genetics.

Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies

J. Albuisson, M. Goossens, N. Collot, 2006, American journal of medical genetics. Part A.

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

E. Girodon, M. Goossens, F. Niel, 2004, Journal of Medical Genetics.

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

M. Goossens, D. Mowat, R. Rintala, 2001, Human molecular genetics.

Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer

S. Leroy, J. Dalphin, A. Cazes, 2020, European Respiratory Journal.

Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder.

E. Alnemri, L. Cuisset, S. Amselem, 2010, Arthritis and rheumatism.

Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders

S. Amselem, L. Faivre, B. Copin, 2014, Arthritis & rheumatology.