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por Lachman, Ralph S.
Publicado 2007

A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

por Alanay, Yasemin, Lachman, Ralph S.
Publicado 2011

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

por Xue, Yuan, Sun, Angela, Mekikian, P Betty, Martin, Jorge, Rimoin, David L, Lachman, Ralph S, Wilcox, William R
Publicado 2014

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

por Harmatz, Paul R., Garcia, Paula, Guffon, Nathalie, Randolph, Linda M., Shediac, Renée, Braunlin, Elizabeth, Lachman, Ralph S., Decker, Celeste
Publicado 2013

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

por Murali, Chaya, Lu, James T., Jain, Mahim, Liu, David S., Lachman, Ralph, Gibbs, Richard A., Lee, Brendan H., Cohn, Daniel, Campeau, Philippe M.
Publicado 2014

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

por Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah
Publicado 2015

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

por Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Qureshi, Faisal, Jacques, Suzanne M., Wallerstein, Robert, Lachman, Ralph S., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah
Publicado 2017

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

por Lachman, Ralph S., Burton, Barbara K., Clarke, Lorne A., Hoffinger, Scott, Ikegawa, Shiro, Jin, Dong-Kyu, Kano, Hiroki, Kim, Ok-Hwa, Lampe, Christina, Mendelsohn, Nancy J., Shediac, Renée, Tanpaiboon, Pranoot, White, Klane K.
Publicado 2014

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

por Barad, Maya, Csukasi, Fabiana, Bosakova, Michaela, Martin, Jorge H., Zhang, Wenjuan, Paige Taylor, S., Lachman, Ralph S., Zieba, Jennifer, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X., Cohn, Daniel H., Krejci, Pavel, Krakow, Deborah, Duran, Ivan
Publicado 2020

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

por Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S., Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E., Lachman, Ralph S., Nishimura, Gen, Grigelioniene, Giedre
Publicado 2023

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

por Zieba, Jennifer, Zhang, Wenjuan, Chong, Jessica X., Forlenza, Kimberly N., Martin, Jorge H., Heard, Kelly, Grange, Dorothy K., Butler, Merlin G., Kleefstra, Tjitske, Lachman, Ralph S., Nickerson, Deborah, Regnier, Michael, Cohn, Daniel H., Bamshad, Michael, Krakow, Deborah
Publicado 2017

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

por Warman, Matthew L, Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Publicado 2011

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

por Purandare, Smita M, Mendoza-Londono, Roberto, Yatsenko, Svetlana A, Napierala, Dobrawa, Scott, Daryl A, Sibai, Tarek, Casas, Kari, Wilson, Patrick, Lee, Jiyun, Muneer, Razia, Leonard, Joe C, Ramji, Faridali G, Lachman, Ralph, Li, Shibo, Stankiewicz, Pawel, Lee, Brendan, Mulvihill, John J
Publicado 2008

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia

por Bhattacharya, Sanchita, Li, Jian, Sockell, Alexandra, Kan, Matthew J., Bava, Felice A., Chen, Shann-Ching, Ávila-Arcos, María C., Ji, Xuhuai, Smith, Emery, Asadi, Narges B., Lachman, Ralph S., Lam, Hugo Y.K., Bustamante, Carlos D., Butte, Atul J., Nolan, Garry P.
Publicado 2018

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

por Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.
Publicado 2018