2.4(top 20%)
impact factor
868(top 20%)
papers
33.0K(top 10%)
citations
92(top 5%)
h-index
2.5(top 20%)
impact factor
1.1K
all documents
35.9K
doc citations
137(top 5%)
g-index
Top Articles
| # | Title | Journal | Year | Citations |
|---|---|---|---|---|
| 1 | The 2017 international classification of the Ehlers–Danlos syndromes | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2017 | 1,163 |
| 2 | Family genetic studies, suicide, and suicidal behavior | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 474 |
| 3 | Disorders of carnitine transport and the carnitine cycle | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2006 | 415 |
| 4 | A framework for the classification of joint hypermobility and related conditions | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2017 | 356 |
| 5 | Genetics of cleft lip and cleft palate | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2013 | 336 |
| 6 | Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2017 | 298 |
| 7 | Making sense of cilia in disease: The human ciliopathies | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2009 | 295 |
| 8 | Prader–Willi syndrome and Angelman syndrome | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 282 |
| 9 | Beckwith–Wiedemann syndrome | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 274 |
| 10 | Evolving knowledge of the teratogenicity of medications in human pregnancy | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 269 |
| 11 | Beckwith-Wiedemann syndrome | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 263 |
| 12 | Down syndrome: Cognitive and behavioral functioning across the lifespan | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2015 | 254 |
| 13 | Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2017 | 239 |
| 14 | Risk of tumorigenesis in overgrowth syndromes: A comprehensive review | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 237 |
| 15 | Epidemiology of neural tube defects | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 225 |
| 16 | PG4KDS: A model for the clinical implementation of pre‐emptive pharmacogenetics | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2014 | 221 |
| 17 | The molecular genetics of holoprosencephaly | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 220 |
| 18 | Ciliary disorder of the skeleton | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2012 | 218 |
| 19 | Methylmalonic and propionic aciduria | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2006 | 214 |
| 20 | Disorders of left–right asymmetry: Heterotaxy and situs inversus | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2009 | 202 |
| 21 | Clinical and molecular features of Joubert syndrome and related disorders | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2009 | 202 |
| 22 | Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2016 | 195 |
| 23 | Liver and kidney disease in ciliopathies | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2009 | 193 |
| 24 | Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2006 | 181 |
| 25 | Embryology of neural tube development | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 178 |
| 26 | Recent progress towards a molecular understanding of Marfan syndrome | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 176 |
| 27 | Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 176 |
| 28 | Down syndrome: Common otolaryngologic manifestations | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2006 | 171 |
| 29 | Tumor predisposition in Costello syndrome | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 169 |
| 30 | Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 169 |
| 31 | The Ehlers–Danlos syndromes, rare types | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2017 | 168 |
| 32 | Inborn errors of cobalamin absorption and metabolism | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 167 |
| 33 | The genetic tyrosinemias | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2006 | 163 |
| 34 | Monosomy 1p36 deletion syndrome | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2007 | 162 |
| 35 | Clinical pharmacogenetics implementation: Approaches, successes, and challenges | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2014 | 162 |
| 36 | Hypermethioninemias of genetic and non‐genetic origin: A review | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2011 | 160 |
| 37 | Neurological and spinal manifestations of the Ehlers–Danlos syndromes | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2017 | 157 |
| 38 | The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2007 | 155 |
| 39 | SWI/SNF chromatin remodeling complexes and cancer | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2014 | 155 |
| 40 | Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2007 | 152 |
| 41 | Uniparental disomy and human disease: An overview | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 151 |
| 42 | Update on the clinical features and natural history of Wolf–Hirschhorn (4p‐) syndrome: Experience with 87 patients and recommendations for routine health supervision | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2008 | 150 |
| 43 | Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2009 | 145 |
| 44 | Gastroschisis: International epidemiology and public health perspectives | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2008 | 143 |
| 45 | On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: Genotype–phenotype correlation analysis of 80 patients and literature review | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2008 | 143 |
| 46 | Proteus syndrome: An update | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2005 | 142 |
| 47 | The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2018 | 142 |
| 48 | What is the genetic relationship between anxiety and depression? | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2008 | 141 |
| 49 | Measurement properties of clinical assessment methods for classifying generalized joint hypermobility—A systematic review | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2017 | 141 |
| 50 | Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2010 | 140 |