| # | Title | Journal | Year | Citations |
|---|
| 1 | Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997 | American Journal of Medical Genetics Part A | 1998 | 1,624 |
| 2 | Twin studies of schizophrenia: From bow-and-arrow concordances to Star Wars Mx and functional genomics | American Journal of Medical Genetics Part A | 2000 | 771 |
| 3 | Cockayne syndrome: Review of 140 cases | American Journal of Medical Genetics Part A | 1992 | 749 |
| 4 | Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination | American Journal of Medical Genetics Part A | 2001 | 671 |
| 5 | International nosology of heritable disorders of connective tissue, Berlin, 1986 | American Journal of Medical Genetics Part A | 1988 | 630 |
| 6 | Meta-analysis of the association between a serotonin transporter promoter polymorphism (5-HTTLPR) and anxiety-related personality traits | American Journal of Medical Genetics Part A | 2004 | 620 |
| 7 | Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion | American Journal of Medical Genetics Part A | 1989 | 566 |
| 8 | Endogenous hydrogen sulfide overproduction in Down syndrome | American Journal of Medical Genetics Part A | 2003 | 558 |
| 9 | Prader-Willi syndrome: Current understanding of cause and diagnosis | American Journal of Medical Genetics Part A | 1990 | 548 |
| 10 | Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies | American Journal of Medical Genetics Part A | 1986 | 547 |
| 11 | Unusual case of Smith-Lemli-Opitz syndrome “type II” | American Journal of Medical Genetics Part A | 1995 | 545 |
| 12 | Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population | American Journal of Medical Genetics Part A | 1989 | 526 |
| 13 | Genetic variation in the serotonin transporter promoter region affects serotonin uptake in human blood platelets | American Journal of Medical Genetics Part A | 1999 | 512 |
| 14 | A new genetic concept: Uniparental disomy and its potential effect, isodisomy | American Journal of Medical Genetics Part A | 1980 | 498 |
| 15 | Epidemiology of neurofibromatosis type 1 | American Journal of Medical Genetics Part A | 1999 | 492 |
| 16 | Analysis of neocortex in three males with the fragile X syndrome | American Journal of Medical Genetics Part A | 1991 | 463 |
| 17 | Gardner syndrome in a man with an interstitial deletion of 5q | American Journal of Medical Genetics Part A | 1986 | 458 |
| 18 | Diagnostic criteria for Walker-Warburg syndrome | American Journal of Medical Genetics Part A | 1989 | 439 |
| 19 | Genetic influences onDSM-III-R drug abuse and dependence: A study of 3,372 twin pairs | American Journal of Medical Genetics Part A | 1996 | 436 |
| 20 | D2 dopamine receptor gene in psychiatric and neurologic disorders and its phenotypes | American Journal of Medical Genetics Part A | 2003 | 434 |
| 21 | Noonan syndrome: A review | American Journal of Medical Genetics Part A | 1985 | 425 |
| 22 | Genetic epidemiological studies of early-onset deafness in the U.S. school-age population | American Journal of Medical Genetics Part A | 1993 | 406 |
| 23 | Genetic and environmental influences on behavioral disinhibition | American Journal of Medical Genetics Part A | 2000 | 404 |
| 24 | Velo-cardio-facial syndrome: A review of 120 patients | American Journal of Medical Genetics Part A | 1993 | 403 |
| 25 | Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity | American Journal of Medical Genetics Part A | 1994 | 397 |
| 26 | Premature ovarian failure in the fragile X syndrome | American Journal of Medical Genetics Part A | 2000 | 396 |
| 27 | Sutural biology and the correlates of craniosynostosis | American Journal of Medical Genetics Part A | 1993 | 395 |
| 28 | Mitochondrial DNA mutations in human disease | American Journal of Medical Genetics Part A | 2001 | 393 |
| 29 | Late-Onset psychosis in the velo-cardio-facial syndrome | American Journal of Medical Genetics Part A | 1992 | 391 |
| 30 | Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease | American Journal of Medical Genetics Part A | 1988 | 387 |
| 31 | Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome | American Journal of Medical Genetics Part A | 1992 | 387 |
| 32 | Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients | American Journal of Medical Genetics Part A | 1997 | 381 |
| 33 | The hedgehog signaling network | American Journal of Medical Genetics Part A | 2003 | 379 |
| 34 | Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients | American Journal of Medical Genetics Part A | 1988 | 373 |
| 35 | Ectodermal dysplasias: A clinical classification and a causal review | American Journal of Medical Genetics Part A | 1994 | 367 |
| 36 | Interstitial deletion of (17)(p11.2p11.2) in nine patients | American Journal of Medical Genetics Part A | 1986 | 364 |
| 37 | Evidence for multi-site closure of the neural tube in humans | American Journal of Medical Genetics Part A | 1993 | 364 |
| 38 | Classification and birth prevalence of orofacial clefts | American Journal of Medical Genetics Part A | 1998 | 362 |
| 39 | The fetal valproate syndrome | American Journal of Medical Genetics Part A | 1984 | 361 |
| 40 | Autism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors | American Journal of Medical Genetics Part A | 2004 | 359 |
| 41 | Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12-q13.1: Part 1 | American Journal of Medical Genetics Part A | 1994 | 356 |
| 42 | Genetic study of nonsyndromic coronal craniosynostosis | American Journal of Medical Genetics Part A | 1995 | 356 |
| 43 | Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: A preliminary report | American Journal of Medical Genetics Part A | 1999 | 346 |
| 44 | An autosomal genomic screen for autism | American Journal of Medical Genetics Part A | 1999 | 335 |
| 45 | Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b | American Journal of Medical Genetics Part A | 2003 | 335 |
| 46 | Mitochondrial ATP synthase subunitc storage in the ceroid-lipofuscinoses (Batten disease) | American Journal of Medical Genetics Part A | 1992 | 334 |
| 47 | Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring | American Journal of Medical Genetics Part A | 1995 | 334 |
| 48 | Population-based study of congenital heart defects in Down syndrome | American Journal of Medical Genetics Part A | 1998 | 333 |
| 49 | Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence | American Journal of Medical Genetics Part A | 1986 | 331 |
| 50 | Angelman syndrome: Consensus for diagnostic criteria | American Journal of Medical Genetics Part A | 1995 | 326 |
