Mutations in NOTCH1 Cause Adams-Oliver Syndrome
Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
Comprehensive human amniotic fluid metagenomics supports the sterile womb hypothesis
Wang, HanChen, Yang, Gui Xiang, Hu, Yuxiang, Lam, Patricia, Sangha, Karan, Siciliano, Dawn, Swenerton, Anne, Miller, Ruth, Tilley, Peter, Von Dadelszen, Peter, Kalyan, Shirin, Tang, Patrick, Patel, Millan S
Published in Scientific reports (27.04.2022)
Published in Scientific reports (27.04.2022)
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Journal Article
Combined immunodeficiency associated with homozygous MALT1 mutations
McKinnon, Margaret L., MD, Rozmus, Jacob, MD, Fung, Shan-Yu, PhD, Hirschfeld, Aaron F., MSc, Del Bel, Kate L., MSc, Thomas, Leah, BSc, Marr, Nico, Dr rer nat, Martin, Spencer D., BSc, Marwaha, Ashish K., BM, BCh, Priatel, John J., PhD, Tan, Rusung, MD, PhD, Senger, Christof, MD, Tsang, Angela, BSc, Prendiville, Julie, MD, Junker, Anne K., MD, Seear, Michael, MB, ChB, Schultz, Kirk R., MD, Sly, Laura M., PhD, Holt, Robert A., PhD, Patel, Millan S., MD, MSc, Friedman, Jan M., MD, PhD, Turvey, Stuart E., MBBS, DPhil
Published in Journal of allergy and clinical immunology (01.05.2014)
Published in Journal of allergy and clinical immunology (01.05.2014)
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Journal Article
The Molecular Clock Mediates Leptin-Regulated Bone Formation
Fu, Loning, Patel, Millan S., Bradley, Allan, Wagner, Erwin F., Karsenty, Gerard
Published in Cell (09.09.2005)
Published in Cell (09.09.2005)
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Journal Article
Canonical Wnt Signaling in Differentiated Osteoblasts Controls Osteoclast Differentiation
Glass, Donald A., Bialek, Peter, Ahn, Jong Deok, Starbuck, Michael, Patel, Millan S., Clevers, Hans, Taketo, Mark M., Long, Fanxin, McMahon, Andrew P., Lang, Richard A., Karsenty, Gerard
Published in Developmental cell (01.05.2005)
Published in Developmental cell (01.05.2005)
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Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines
Cornthwaite, Melissa, Turner, Kelly, Armstrong, Linlea, Boerkoel, Cornelius F., Chang, Caitlin, Lehman, Anna, Nikkel, Sarah M., Patel, Millan S., Van Allen, Margot, Langlois, Sylvie
Published in Prenatal diagnosis (01.11.2022)
Published in Prenatal diagnosis (01.11.2022)
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Journal Article
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2‐related distal arthrogryposis type 5
Oliwa, Agata, Hendson, Glenda, Longman, Cheryl, Synnes, Anne, Seath, Kim, Barnicoat, Angela, Hall, Judith G., Patel, Millan S.
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
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Journal Article
Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome-exploration of association with PAX6 genotype
Zong, Zheyuan, Kalyan, Shirin, Andres, Cameron, Akkor, Sueda, Prior, Jerilynn C, Patel, Millan S
Published in Ophthalmic genetics (01.06.2022)
Published in Ophthalmic genetics (01.06.2022)
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Journal Article
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy
Sharma, Mehul, Fu, Maggie P., Lu, Henry Y., Sharma, Ashish A., Modi, Bhavi P., Michalski, Christina, Lin, Susan, Dalmann, Joshua, Salman, Areesha, Del Bel, Kate L., Waqas, Meriam, Terry, Jefferson, Setiadi, Audi, Lavoie, Pascal M., Wasserman, Wyeth W., Mwenifumbo, Jill, Kobor, Michael S., Lee, Anna F., Kuchenbauer, Florian, Lehman, Anna, Cheng, Sylvia, Cooper, Anthony, Patel, Millan S., Turvey, Stuart E.
Published in Blood (27.10.2022)
Published in Blood (27.10.2022)
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Journal Article
HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development
Connell, Marisa, Chen, Helen, Jiang, Jihong, Kuan, Chia-Wei, Fotovati, Abbas, Chu, Tony Lh, He, Zhengcheng, Lengyell, Tess C, Li, Huaibiao, Kroll, Torsten, Li, Amanda M, Goldowitz, Daniel, Frappart, Lucien, Ploubidou, Aspasia, Patel, Millan S, Pilarski, Linda M, Simpson, Elizabeth M, Lange, Philipp F, Allan, Douglas W, Maxwell, Christopher A
Published in eLife (10.10.2017)
Published in eLife (10.10.2017)
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Journal Article
WNT7b mediates macrophage-induced programmed cell death in patterning of the vasculature
Lang, Richard A, Lobov, Ivan B, Rao, Sujata, Carroll, Thomas J, Vallance, Jefferson E, Ito, Masataka, Ondr, Jennifer K, Kurup, Savita, Glass, Donald A, Patel, Millan S, Shu, Weiguo, Morrisey, Edward E, McMahon, Andrew P, Karsenty, Gerard
Published in Nature (15.09.2005)
Published in Nature (15.09.2005)
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Journal Article
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
Szot, Justin O., Slavotinek, Anne, Chong, Karen, Brandau, Oliver, Nezarati, Marjan, Cueto‐González, Anna M., Patel, Millan S., Devine, Walter P., Rego, Shannon, Acyinena, Alicia P., Shannon, Patrick, Myles‐Reid, Diane, Blaser, Susan, Mieghem, Tim V., Yavuz‐Kienle, Halenur, Skladny, Heyko, Miller, Kristen, Riera, Miereia D. T., Martínez, Silvia A., Tizzano, Eduardo F., Dupuis, Lucie, James Stavropoulos, Dimitri, McNiven, Vanda, Mendoza‐Londono, Roberto, Elliott, Alison M., Phillips, Robert S., Chapman, Gavin, Dunwoodie, Sally L.
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
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Journal Article
Cbfa1-Independent Decrease in Osteoblast Proliferation, Osteopenia, and Persistent Embryonic Eye Vascularization in Mice Deficient in Lrp5, a Wnt Coreceptor
Kato, Masaki, Patel, Millan S, Levasseur, Regis, Lobov, Ivan, Chang, Benny H-J, Glass, 2nd, Donald A, Hartmann, Christine, Li, Lan, Hwang, Tae-Ho, Brayton, Cory F, Lang, Richard A, Karsenty, Gerard, Chan, Lawrence
Published in The Journal of cell biology (15.04.2002)
Published in The Journal of cell biology (15.04.2002)
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Journal Article
22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
Ben-Shachar, Shay, Ou, Zhishuo, Shaw, Chad A., Belmont, John W., Patel, Millan S., Hummel, Marybeth, Amato, Stephen, Tartaglia, Nicole, Berg, Jonathan, Sutton, V. Reid, Lalani, Seema R., Chinault, A. Craig, Cheung, Sau W., Lupski, James R., Patel, Ankita
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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Journal Article
The practice of genomic medicine: A delineation of the process and its governing principles
Handra, Julia, Elbert, Adrienne, Gazzaz, Nour, Moller-Hansen, Ashley, Hyunh, Stephanie, Lee, Hyun Kyung, Boerkoel, Pierre, Alderman, Emily, Anderson, Erin, Clarke, Lorne, Hamilton, Sara, Hamman, Ronnalea, Hughes, Shevaun, Ip, Simon, Langlois, Sylvie, Lee, Mary, Li, Laura, Mackenzie, Frannie, Patel, Millan S, Prentice, Leah M, Sangha, Karan, Sato, Laura, Seath, Kimberly, Seppelt, Margaret, Swenerton, Anne, Warnock, Lynn, Zambonin, Jessica L, Boerkoel, Cornelius F, Chin, Hui-Lin, Armstrong, Linlea
Published in Frontiers in medicine (12.01.2023)
Published in Frontiers in medicine (12.01.2023)
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Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report
Liu, Yi Ariel, Chijiwa, Chieko, Dunham, Christopher P, Jamieson, Douglas H, Solimano, Alfonso, Schalkwyk, Julianne van, Patel, Millan S, Lee, Anna F
Published in Fetal and pediatric pathology (01.02.2022)
Published in Fetal and pediatric pathology (01.02.2022)
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Journal Article
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia
Jacquinet, Adeline, Brown, Lindsay, Sawkins, Jessica, Liu, Pengfei, Pugash, Denise, Van Allen, Margot I., Patel, Millan S.
Published in European journal of medical genetics (01.05.2018)
Published in European journal of medical genetics (01.05.2018)
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Calcium and Vitamin D Intake and Mortality: Results from the Canadian Multicentre Osteoporosis Study (CaMos)
Langsetmo, Lisa, Berger, Claudie, Kreiger, Nancy, Kovacs, Christopher S, Hanley, David A, Jamal, Sophie A, Whiting, Susan J, Genest, Jacques, Morin, Suzanne N, Hodsman, Anthony, Prior, Jerilynn C, Lentle, Brian, Patel, Millan S, Brown, Jacques P, Anastasiades, Tassos, Towheed, Tanveer, Josse, Robert G, Papaioannou, Alexandra, Adachi, Jonathan D, Leslie, William D, Davison, K. Shawn, Goltzman, David, and the CaMos Group
Published in The journal of clinical endocrinology and metabolism (01.07.2013)
Published in The journal of clinical endocrinology and metabolism (01.07.2013)
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