PubRank

Molecular syndromology (Mol Syndromol)

Journal PubWeight™ 228.90‹?›

Top papers

Rank Title Year PubWeight™‹?›
1 The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). 2011 1.94
2 Noonan syndrome: clinical aspects and molecular pathogenesis. 2010 1.60
3 Update on Kleefstra Syndrome. 2012 1.42
4 Osteogenesis Imperfecta: A Review with Clinical Examples. 2011 1.38
5 Molecular and Clinical Aspects of Angelman Syndrome. 2011 1.27
6 Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. 2015 1.13
7 In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome. 2012 1.11
8 Genetics of coenzyme q10 deficiency. 2014 1.10
9 RASopathies: Clinical Diagnosis in the First Year of Life. 2011 1.07
10 Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon. 2014 1.07
11 A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans. 2010 1.06
12 CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas. 2013 1.03
13 Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 2011 1.03
14 Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills. 2012 1.02
15 Update on the genetics of bardet-biedl syndrome. 2013 1.00
16 More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. 2013 1.00
17 Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. 2015 1.00
18 A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. 2010 0.99
19 Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation. 2014 0.99
20 MECP2 Duplication Syndrome. 2011 0.99
21 Clinical, genetic and environmental factors associated with congenital vertebral malformations. 2013 0.97
22 VACTERL-H Association and Fanconi Anemia. 2013 0.97
23 Molecular genetics of charcot-marie-tooth disease: from genes to genomes. 2012 0.97
24 Applying Genomic Analysis to Newborn Screening. 2012 0.96
25 Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype. 2010 0.95
26 IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 2010 0.95
27 Clinical presentations of coenzyme q10 deficiency syndrome. 2014 0.94
28 VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. 2013 0.94
29 FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. 2011 0.94
30 Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. 2012 0.93
31 Involvement of patient organisations in research and development of orphan drugs for rare diseases in europe. 2012 0.93
32 Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. 2010 0.93
33 A candidate gene association study further corroborates involvement of contactin genes in autism. 2014 0.92
34 Pitt-Hopkins Syndrome. 2011 0.92
35 Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and Cysts. 2010 0.92
36 The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. 2012 0.92
37 Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. 2013 0.91
38 Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. 2011 0.91
39 Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. 2013 0.91
40 Considering the Embryopathogenesis of VACTERL Association. 2013 0.91
41 Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression. 2010 0.91
42 Rett Syndrome. 2012 0.91
43 Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations. 2013 0.91
44 Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012. 2012 0.90
45 Mitochondrial Factors and VACTERL Association-Related Congenital Malformations. 2013 0.89
46 First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome. 2012 0.89
47 Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. 2010 0.88
48 Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects. 2012 0.88
49 VATER/VACTERL Association: Evidence for the Role of Genetic Factors. 2013 0.88
50 A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. 2010 0.88
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