Savarirayan, Ravi; Irving, Melita; Harmatz, Paul; Delgado, Borja; Wilcox, William R.; Philips, John; Owen, Natalie; Bacino, Carlos A.; Tofts, Louise; Charrow, Joel; Polgreen, Lynda E.; Hoover-Fong, Julie; Arundel, Paul; Ginebreda, Ignacio; Saal, Howard M.; Basel, Donald; Font, Rosendo Ullot; Ozono, Keiichi; Bober, Michael B.; Cormier-Daire, Valerie; Kim-Hanh Le Quan Sang; Baujat, Genevieve; Alanay, Yasemin; Rutsch, Frank; Hoernschemeyer, Daniel; Mohnike, Klaus; Mochizuki, Hiroshi; Tajima, Asako; Kotani, Yumiko; Weaver, David D.; White, Klane K.; Army, Clare; Larrimore, Kevin; Gregg, Keith; Jeha, George; Milligan, Claire; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan

The impact of route of delivery on surgical morbidity in fetuses affected by achondroplasia: A multicenter retrospective study

GENETICS IN MEDICINE

IF6.2

2022-03-010

Vosoritide for children with achondroplasia: Growth velocity and pubertal milestones

GENETICS IN MEDICINE

IF6.2

2022-03-011

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US

来自CLARITY的软骨发育不全的增长，包括身高，体重，身高体重和头围: 软骨发育不全自然史研究-美国软骨发育不全的多中心回顾性队列研究

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-12-2332

OAAI

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

GENETICS IN MEDICINE

IF6.2

2021-12-0152

OAAI

Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William R.; Bacino, Carlos A.; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Polgreen, Lynda E.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kotani, Yumiko; Yasui, Natsuo; White, Klane K.; Saal, Howard M.; Leiva-Gea, Antonio; Luna-Gonzalez, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M.; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan R. S.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

nature reviews endocrinology

IF40

2021-11-2660

Savarirayan, Ravi; Ireland, Penny; Irving, Melita; Thompson, Dominic; Alves, Ines; Baratela, Wagner A. R.; Betts, James; Bober, Michael B.; Boero, Silvio; Briddell, Jenna; Campbell, Jeffrey; Campeau, Philippe M.; Carl-Innig, Patricia; Cheung, Moira S.; Cobourne, Martyn; Cormier-Daire, Valerie; Deladure-Molla, Muriel; del Pino, Mariana; Elphick, Heather; Fano, Virginia; Fauroux, Brigitte; Gibbins, Jonathan; Groves, Mari L.; Hagenas, Lars; Hannon, Therese; Hoover-Fong, Julie; Kaisermann, Morrys; Leiva-Gea, Antonio; Llerena, Juan; Mackenzie, William; Martin, Kenneth; Mazzoleni, Fabio; McDonnell, Sharon; Meazzini, Maria Costanza; Milerad, Josef; Mohnike, Klaus; Mortier, Geert R.; Offiah, Amaka; Ozono, Keiichi; Phillips, John A., III; Powell, Steven; Prasad, Yosha; Raggio, Cathleen; Rosselli, Pablo; Rossiter, Judith; Selicorni, Angelo; Sessa, Marco; Theroux, Mary; Thomas, Matthew; Trespedi, Laura; Tunkel, David; Wallis, Colin; Wright, Michael; Yasui, Natsuo; Fredwall, Svein Otto

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-09-0722

OAAI

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

GENETICS IN MEDICINE

IF6.2

2021-08-0136

OAAI

Medicare Beneficiaries With Self-Reported Functional Hearing Difficulty Have Unmet Health Care Needs

自我报告的功能性听力困难的Medicare受益人未满足医疗保健需求