| # | Title | Journal | Year | Citations |
|---|
| 1 | Guidelines for case classification for the national birth defects prevention study | Birth Defects Research Part A: Clinical and Molecular Teratology | 2003 | 501 |
| 2 | Abnormality of chromosome 11 in patients withfeatures of Beckwith-Wiedemann syndrome | Journal of Pediatrics | 1983 | 238 |
| 3 | ADULTS WITH PRADER‐WILLI SYNDROME: A SURVEY OF 232 CASES | Developmental Medicine and Child Neurology | 1987 | 230 |
| 4 | Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss | Human Mutation | 1998 | 216 |
| 5 | MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus | Human Molecular Genetics | 2015 | 90 |
| 6 | Clinical features and management issues in Mowat–Wilson syndrome | American Journal of Medical Genetics, Part A | 2006 | 89 |
| 7 | Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-tooth neuropathy | | 1996 | 84 |
| 8 | Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene | Muscle and Nerve | 1997 | 67 |
| 9 | The human connexin32 gene is transcribed from two tissue-specific promoters | Bioscience Reports | 1996 | 54 |
| 10 | Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension | American Journal of Medical Genetics, Part A | 2011 | 53 |
| 11 | Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations | Nature Genetics | 2008 | 45 |
| 12 | Craniosynostosis: Another feature of the 22q11.2 deletion syndrome | American Journal of Medical Genetics, Part A | 2005 | 38 |
| 13 | New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy | Neuromuscular Disorders | 1995 | 31 |
| 14 | Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A | American Journal of Medical Genetics, Part A | 2013 | 27 |
| 15 | Duplication of the distal segment of 14q | American Journal of Medical Genetics Part A | 1983 | 23 |
| 16 | Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection | Prenatal Diagnosis | 1990 | 20 |
| 17 | Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene | | 1997 | 20 |
| 18 | A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features | American Journal of Medical Genetics, Part A | 2011 | 20 |
| 19 | A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8 | | 1996 | 19 |
| 20 | Apparently new oculo-cerebro-acral syndrome | American Journal of Medical Genetics Part A | 1984 | 16 |
| 21 | AluI-resistant chromatin of chromosome 18: classification, frequencies and implications | Chromosoma | 1987 | 16 |
| 22 | Intestinal pseudo-obstruction in adult spinal muscular atrophy | Muscle and Nerve | 1994 | 15 |
| 23 | A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan | Brain and Development | 2006 | 15 |
| 24 | Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease | Drug Design, Development and Therapy | 2015 | 15 |
| 25 | Association of the X chromosomal region q11→22 and Klinefelter syndrome | Clinical Genetics | 1981 | 10 |
| 26 | X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND CONNEXIN32 | Cell Biology International | 1998 | 9 |
| 27 | Association of neural tube defects with omphalocele in chromosomally normal fetuses | American Journal of Medical Genetics Part A | 1987 | 7 |
| 28 | Silver staining and the 17ps chromosome | Clinical Genetics | 1980 | 5 |
| 29 | Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144D6) in 17p13.3 | Genomics | 1990 | 4 |
| 30 | 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster | American Journal of Medical Genetics, Part A | 2012 | 4 |
| 31 | Familial mediterranean Fever and renal disease | Saudi Journal of Kidney Diseases and Transplantation: an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia | 2003 | 4 |
| 32 | Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21 | Developmental Medicine and Child Neurology | 2002 | 1 |
| 33 | Hereditary spastic paraplegia | Handbook of Clinical Neurophysiology | 2004 | 0 |
| 34 | A Dejerine‐Sottas neuropathy family with a gene mapped on chromosome 8 | Muscle and Nerve | 1996 | 0 |
