Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Zhang, Wenjuan, Taylor, S. Paige, Ennis, Hayley A., Forlenza, Kimberly N., Duran, Ivan, Li, Bing, Sanchez, Jorge A. Ortiz, Nevarez, Lisette, Nickerson, Deborah A., Bamshad, Michael, Lachman, Ralph S., Krakow, Deborah, Cohn, Daniel H.
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis
Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Prenen, Jean, Owsianik, Grzegorz, Voets, Thomas, Funari, Tara L, Nelson, Stanley F, Lachman, Ralph S, Merriman, Barry, Reyno, Soraya, Vaglio, Alicia, Cohn, Daniel H, Funari, Vincent A, Rock, Matthew J, Rimoin, David L, Nilius, Bernd, Nagai, Toshiro, Janssens, Annelies, Wilcox, William R, Quadrelli, Roberto, Ikegawa, Shiro
Published in Nature genetics (01.08.2008)
Published in Nature genetics (01.08.2008)
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.
Published in American journal of human genetics (13.03.2009)
Published in American journal of human genetics (13.03.2009)
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Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
Merrill, Amy E., Sarukhanov, Anna, Krejci, Pavel, Idoni, Brian, Camacho, Natalia, Estrada, Kristine D., Lyons, Karen M., Deixler, Hannah, Robinson, Haynes, Chitayat, David, Curry, Cynthia J., Lachman, Ralph S., Wilcox, William R., Krakow, Deborah
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
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
Published in Frontiers in genetics (23.06.2023)
Published in Frontiers in genetics (23.06.2023)
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MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1
Balasubramanian, Karthika, Li, Bing, Krakow, Deborah, Nevarez, Lisette, Ho, Patric J., Ainsworth, Julia A., Nickerson, Deborah A., Bamshad, Michael J., Immken, LaDonna, Lachman, Ralph S., Cohn, Daniel H.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
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.
Published in Skeletal radiology (01.03.2014)
Published in Skeletal radiology (01.03.2014)
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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia
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
Published in EBioMedicine (01.12.2020)
Published in EBioMedicine (01.12.2020)
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A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)
Lee, Hane, Nevarez, Lisette, Lachman, Ralph S., Wilcox, William R., Krakow, Deborah, Cohn, Daniel H.
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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The Erlenmeyer flask bone deformity in the skeletal dysplasias
Faden, Maha A., Krakow, Deborah, Ezgu, Fatih, Rimoin, David L., Lachman, Ralph S.
Published in American journal of medical genetics. Part A (01.06.2009)
Published in American journal of medical genetics. Part A (01.06.2009)
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Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz
Muensterer, Oliver J., Berdon, Walter E., Lachman, Ralph S., Done, Stephen L.
Published in Pediatric radiology (01.04.2012)
Published in Pediatric radiology (01.04.2012)
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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome
Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Lachman, Ralph S, Nickerson, Deborah A, Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah
Published in Nature communications (16.06.2015)
Published in Nature communications (16.06.2015)
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
Tavormina, Patricia L, Shiang, Rita, Thompson, Leslie M, Zhu, Ya-Zhen, Wilkin, Douglas J, Lachman, Ralph S, Wilcox, William R, Rimoin, David L, Cohn, Daniel H, Wasmuth, John J
Published in Nature genetics (01.03.1995)
Published in Nature genetics (01.03.1995)
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
KRAKOW, Deborah, ROBERTSON, Stephen P, AFTIMOS, Salim, CHONG AE KIM, FIRTH, Helen, STEINER, Carlos E, CORMIER-DAIRE, Valerie, SUPERTI-FURGA, Andrea, BONAFE, Luisa, GRAHAM, John M, GRIX, Arthur, BACINO, Carlos A, KING, Lily M, ALLANSON, Judith, BIALER, Martin G, LACHMAN, Ralph S, RIMOIN, David L, COHN, Daniel H, MORGAN, Timothy, SEBALD, Eiman T, BERTOLOTTO, Cristina, WACHSMANN-HOGIU, Sebastian, ACUNA, Dora, SHAPIRO, Sandor S, TAKAFUTA, Toshiro
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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