Himanshu Goel
AuthID: R-00G-Y2G
1
TITLE: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome Full Text
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome Full Text
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
AUTHORS: Ben Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T.; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M.; Lacassie, Yves; Kim, Soo Hyun; Kim, Woo Yang; Quade, Bradley J.; Morton, Cynthia C.; Kim, Cheol Hee; Layman, Lawrence C.; Kim, Hyung Goo;
PUBLISHED: 2023, SOURCE: SCIENTIFIC REPORTS, VOLUME: 13, ISSUE: 1
INDEXED IN: WOS
WOS4
TITLE: ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. HUMAN MUTATION Full Text
AUTHORS: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
AUTHORS: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
