Genetics and mental retardation syndromes: A new look at behavior and interventions. EM Dykens, RM Hodapp, BM Finucane Paul H. Brookes Publishing Co., 2000 | 628 | 2000 |
Mutations in RAI1 associated with Smith–Magenis syndrome RE Slager, TL Newton, CN Vlangos, B Finucane, SH Elsea Nature genetics 33 (4), 466-468, 2003 | 401 | 2003 |
Phenotype of the 22q11. 2 deletion in individuals identified through an affected relative: cast a wide FISHing net! DM Mcdonald-Mcginn, MK Tonnesen, A Laufer-Cahana, B Finucane, ... Genetics in Medicine 3 (1), 23-29, 2001 | 375 | 2001 |
Fragile X‐associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines E Berry‐Kravis, L Abrams, SM Coffey, DA Hall, C Greco, LW Gane, ... Movement disorders: official journal of the Movement Disorder Society 22 (14 …, 2007 | 369 | 2007 |
SPARK: A US cohort of 50,000 families to accelerate autism research P Feliciano, AM Daniels, LAG Snyder, A Beaumont, A Camba, A Esler, ... Neuron 97 (3), 488-493, 2018 | 336 | 2018 |
Smith–Magenis syndrome SH Elsea, S Girirajan European Journal of Human Genetics 16 (4), 412-421, 2008 | 288 | 2008 |
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug, K Nakabayashi, ... The American Journal of Human Genetics 79 (5), 965-972, 2006 | 245 | 2006 |
A review of fragile X premutation disorders: expanding the psychiatric perspective. JA Bourgeois, SM Coffey, SM Rivera, D Hessl, LW Gane, F Tassone, ... Journal of Clinical Psychiatry 70 (6), 852, 2009 | 221 | 2009 |
Gender, genotype, and phenotype differences in Smith–Magenis syndrome: A meta‐analysis of 105 cases EA Edelman, S Girirajan, B Finucane, PI Patel, JR Lupski, ACM Smith, ... Clinical genetics 71 (6), 540-550, 2007 | 178 | 2007 |
The trajectory of cognitive development in males with fragile X syndrome EM Dykens, RM Hodapp, S Ort, B Finucane, LR Shapiro, JF Leckman Journal of the American Academy of Child & Adolescent Psychiatry 28 (3), 422-426, 1989 | 172 | 1989 |
Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome. EM Dykens, BM Finucane, C Gayley Journal of Autism & Developmental Disorders 27 (2), 1997 | 168 | 1997 |
Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors A McConkie‐Rosell, B Finucane, A Cronister, L Abrams, RL Bennett, ... Journal of genetic counseling 14 (4), 249-270, 2005 | 158 | 2005 |
Smith–Magenis Syndrome ACM Smith, AL Gropman Cassidy and Allanson's management of genetic syndromes, 863-893, 2021 | 150 | 2021 |
The Spasmodic Upper‐body Squeeze: a Chalacteristic Behavior in Smith‐Magenis Syndrome BM Finucane, D Konar, BH Givler, MB Kurtt, CI Scott Jr Developmental Medicine & Child Neurology 36 (1), 78-83, 1994 | 145 | 1994 |
Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome B Finucane, K Haines Dirrigl, EW Simon American Journal on Mental Retardation 106 (1), 52-58, 2001 | 116 | 2001 |
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission CM Yrigollen, L Martorell, B Durbin-Johnson, M Naudo, J Genoves, ... Journal of neurodevelopmental disorders 6, 1-12, 2014 | 115 | 2014 |
A survey of seizures and current treatments in 15q duplication syndrome KD Conant, B Finucane, N Cleary, A Martin, C Muss, M Delany, ... Epilepsia 55 (3), 396-402, 2014 | 104 | 2014 |
Autistic symptoms among children and young adults with isodicentric chromosome 15 S Rineer, B Finucane, EW Simon American Journal of Medical Genetics 81 (5), 428-433, 1998 | 98 | 1998 |
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders A McConkie-Rosell, L Abrams, B Finucane, A Cronister, LW Gane, ... Journal of Genetic Counseling 16, 593-606, 2007 | 93 | 2007 |
Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors B Finucane, L Abrams, A Cronister, AD Archibald, RL Bennett, ... Journal of genetic counseling 21, 752-760, 2012 | 85 | 2012 |