Reymundo Lozano
机构: Icahn School of Medicine at Mount Sinai
每年引用次数
引用次数
引用: 1,741
H-指数: 24
I10-指数 : 38
出版物: 73
Association of β-Defensin 1 Single Nucleotide Polymorphisms with Atopic Dermatitis
Ernesto Prado-Montes de Oca , Alejandro García-Vargas , Reymundo Lozano-Inocencio , Martha Patricia Gallegos-Arreola
International Archives of Allergy and Immunology 142 ( 3) 211 -218
51
2007
Baby girl with right labia majora mass
Julia Barillas-Cerritos , BS Shane Speirs , Reymundo Lozano
Contemporary pediatrics 33 ( 2) 13 -17
2016
Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Laurie H. Seaver , Reymundo Lozano , Cassie S. Mintz , Adda Grimberg
Genetics in Medicine 23 ( 5) 813 -815
1
2021
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
Alexander Kolevzon , Paige M Siper , Joseph D Buxbaum , Jeffrey M Saland
Journal of Neurodevelopmental Disorders 13 ( 1) 18 -18
2021
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Jessica Zweifach , Alexander Kolevzon , Paige M Siper , Jennifer H Foss-Feig
Molecular Autism 12 ( 1) 36
2021
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.
Jaume Campistol , María Díez-Juan , Laura Callejón , Aroa Fernandez-De Miguel
Developmental Medicine & Child Neurology 58 ( 8) 842 -847
15
2016
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome
Andrew Ligsay , Anke Van Dijck , Danh V. Nguyen , Reymundo Lozano
Journal of Neurodevelopmental Disorders 9 ( 1) 26
36
2017
Methadone use in a male with the FMRI premutation and FXTAS.
Zukhrofi Muzar , Reymundo Lozano , Andrea Schneider , Patrick E. Adams
American Journal of Medical Genetics Part A 167 ( 6) 1354 -1359
16
2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach
Bruce Korf , Reza Ahmadian , Judith Allanson , Yoko Aoki
American Journal of Medical Genetics Part A 167 ( 8) 1741 -1746
6
2015
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations
Reymundo Lozano , Kristin Herman , Melanie Rothfuss , Hillary Rieger
American Journal of Medical Genetics Part A 170 ( 12) 3207 -3214
13
2016
Association between macroorchidism and intelligence in FMR1 premutation carriers.
Reymundo Lozano , Scott Summers , Cristina Lozano , Yi Mu
American Journal of Medical Genetics Part A 164 ( 9) 2206 -2211
6
2014
Modulation of the GABAergic pathway for the treatment of fragile X syndrome.
Randi Hagerman , Reymundo Lozano , Emma Hare
Neuropsychiatric Disease and Treatment 10 1769 -1779
76
2014
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Deborah A. Hall , Erin Robertson , Annie L. Shelton , Molly C. Losh
The Cerebellum 15 ( 5) 578 -586
20
2016
Executive Dysfunction in Female FMR1 Premutation Carriers
Annie L. Shelton , Kim M. Cornish , Claudine M. Kraan , Reymundo Lozano
The Cerebellum 15 ( 5) 565 -569
12
2016
Aging in Fragile X Premutation Carriers.
Reymundo Lozano , Naomi Saito , Dallas Reed , Marwa Eldeeb
The Cerebellum 15 ( 5) 587 -594
5
2016
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Samuel P Strom , Reymundo Lozano , Hane Lee , Naghmeh Dorrani
BMC Medical Genetics 15 ( 1) 49 -49
58
2014
Prospective investigation of FOXP1 syndrome
Paige M. Siper , Silvia De Rubeis , Maria del Pilar Trelles , Allison Durkin
Molecular Autism 8 ( 1) 57 -57
37
2017
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Silvia De Rubeis , Paige M. Siper , Allison Durkin , Jordana Weissman
Molecular Autism 9 ( 1) 31 -31
53
2018
Targeted treatments in fragile X syndrome
Emma B Hare , Randi J Hagerman , Reymundo Lozano
Expert opinion on orphan drugs 2 ( 6) 531 -543
10
2014
Fragile X spectrum disorders.
Reymundo Lozano , Carolina Alba Rosero , Randi J Hagerman
Intractable & Rare Diseases Research 3 ( 4) 134 -146
102
2014