PubRank

Martine Le Merrer

Author PubWeight™ 119.19‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Lamin a truncation in Hutchinson-Gilford progeria. Science 2003 8.01
2 Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 2008 3.85
3 Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007 3.42
4 Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol 2008 2.64
5 Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005 2.64
6 Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet 2011 2.61
7 Ellis-van Creveld syndrome. Orphanet J Rare Dis 2007 2.38
8 Identification of mutations in CUL7 in 3-M syndrome. Nat Genet 2005 2.10
9 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 2009 2.03
10 Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2011 2.02
11 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004 1.94
12 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat 2007 1.93
13 Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet 2011 1.84
14 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A 2003 1.79
15 ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet 2008 1.78
16 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet 2006 1.63
17 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A 2015 1.60
18 Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort. Horm Res Paediatr 2014 1.57
19 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011 1.55
20 Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet 2004 1.45
21 Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet 2002 1.45
22 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 2005 1.43
23 Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005 1.42
24 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 2011 1.42
25 Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet 2012 1.38
26 Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet 2012 1.36
27 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet 2013 1.33
28 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 2002 1.32
29 Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A 2010 1.30
30 Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet 2012 1.28
31 C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet 2013 1.24
32 Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation 2009 1.21
33 Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 2006 1.20
34 A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 2008 1.19
35 Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet 2008 1.18
36 Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. Am J Med Genet A 2004 1.14
37 Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet 2009 1.14
38 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 2011 1.13
39 Fetal fibrochondrogenesis at 26 weeks' gestation. Prenat Diagn 2002 1.12
40 Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet 2009 1.12
41 Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet 2006 1.11
42 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab 2006 1.11
43 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet 2012 1.10
44 Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat 2006 1.06
45 OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat 2010 1.06
46 A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype. Hum Mutat 2007 1.04
47 Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat 2011 1.03
48 Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 2011 1.02
49 Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst 2010 1.01
50 X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. Hum Mutat 2004 1.01
51 Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004 1.00
52 Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet 2007 1.00
53 Recent advances in Dyggve-Melchior-Clausen syndrome. Mol Genet Metab 2004 1.00
54 Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet 2003 0.99
55 Clinical and molecular overlap in overgrowth syndromes. Am J Med Genet C Semin Med Genet 2005 0.99
56 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. J Med Genet 2012 0.98
57 Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2. Hum Mutat 2011 0.96
58 CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform 2008 0.96
59 Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet A 2004 0.96
60 Achondroplasia. Best Pract Res Clin Rheumatol 2008 0.94
61 Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet 2013 0.94
62 Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet 2008 0.93
63 Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet 2013 0.90
64 Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet A 2010 0.90
65 CEMARA an information system for rare diseases. Stud Health Technol Inform 2010 0.90
66 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat 2012 0.89
67 Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet 2005 0.88
68 Effects of bisphosphonates on tooth eruption in children with osteogenesis imperfecta. Eur J Oral Sci 2008 0.88
69 Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. Am J Med Genet A 2004 0.87
70 Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Pediatr Radiol 2015 0.86
71 Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet A 2008 0.86
72 Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty. J Pediatr Endocrinol Metab 2008 0.85
73 Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. Am J Med Genet A 2003 0.84
74 Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: a register-based study. J Am Acad Dermatol 2010 0.84
75 BBS10 mutations are common in 'Meckel'-type cystic kidneys. J Med Genet 2010 0.84
76 Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy. Am J Med Genet A 2010 0.84
77 Prenatal diagnostic indicators of paternal uniparental disomy 14. Prenat Diagn 2006 0.84
78 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet 2012 0.84
79 Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr 2004 0.83
80 Expanding the skeletal phenotype of Loeys-Dietz syndrome. Am J Med Genet A 2011 0.82
81 The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. Am J Med Genet A 2013 0.82
82 Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs. Am J Med Genet A 2004 0.81
83 Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type. Am J Med Genet A 2013 0.81
84 Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? Clin Dysmorphol 2004 0.81
85 Re-evaluation of kyphomelic dysplasia. Am J Med Genet A 2003 0.80
86 Underdiagnosis of mild congenital disorders of glycosylation type Ia. Pediatr Neurol 2005 0.80
87 Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009. Orphanet J Rare Dis 2010 0.80
88 Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. Am J Med Genet A 2014 0.79
89 Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. Eur J Hum Genet 2005 0.79
90 Clinical utility gene card for: hypophosphatasia. Eur J Hum Genet 2010 0.79
91 Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn 2008 0.78
92 Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis. Am J Med Genet A 2009 0.78
93 Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 2013 0.78
94 Mucopolysaccharidosis type I and craniosynostosis. Acta Neurochir (Wien) 2013 0.77
95 Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. Eur J Med Genet 2011 0.77
96 Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature. Am J Med Genet A 2004 0.76
97 A new osteogenesis imperfecta with improvement over time maps to 11q. Am J Med Genet A 2008 0.75
98 Orphan musculoskeletal and metabolic bone diseases. Best Pract Res Clin Rheumatol 2008 0.75
99 Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management. Spine (Phila Pa 1976) 2014 0.75
100 A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Prenat Diagn 2006 0.75
101 Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia? Am J Med Genet A 2012 0.75
102 Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. Am J Med Genet 2002 0.75
103 Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation. Am J Med Genet 2002 0.75
104 Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome? Am J Med Genet A 2005 0.75
105 X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly. Spine (Phila Pa 1976) 2003 0.75
106 Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity. Am J Med Genet A 2013 0.75
107 Finger creases lend a hand in Kabuki syndrome. Eur J Med Genet 2013 0.75
108 [Jean Frézal, and the emergence of medical genetics]. Med Sci (Paris) 2008 0.75
109 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A 2004 0.75
110 Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). Prenat Diagn 2009 0.75
111 Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. Pediatr Radiol 2011 0.75