关注
Brenda Finucane
Brenda Finucane
Professor, Geisinger
在 geisinger.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Genetics and mental retardation syndromes: A new look at behavior and interventions.
EM Dykens, RM Hodapp, BM Finucane
Paul H. Brookes Publishing Co., 2000
6282000
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
4012003
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
3752001
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
3692007
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
3362018
Smith–Magenis syndrome
SH Elsea, S Girirajan
European Journal of Human Genetics 16 (4), 412-421, 2008
2882008
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
2452006
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
2212009
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
1782007
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
1721989
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
1681997
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
1582005
Smith–Magenis Syndrome
ACM Smith, AL Gropman
Cassidy and Allanson's management of genetic syndromes, 863-893, 2021
1502021
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
1451994
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
1162001
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
1152014
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
1042014
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
981998
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
932007
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
852012
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