Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature
El Abiad, Jad M., Robbins, Sarah M., Cohen, Bernard, Levin, Adam S., Valle, David L., Morris, Carol D., Macena Sobreira, Nara L.
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes
Robbins, Sarah M., Thimm, Matthew A., Valle, David, Jelin, Angie C.
Published in Journal of assisted reproduction and genetics (01.08.2019)
Published in Journal of assisted reproduction and genetics (01.08.2019)
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Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome
Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck‐Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andreas, Houge, Gunnar, van Harssel, Jeske J. T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W., Valle, David, Carey, John, Hoover‐Fong, Julie E., Sobreira, Nara L. M.
Published in American journal of medical genetics. Part A (01.10.2017)
Published in American journal of medical genetics. Part A (01.10.2017)
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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Ben-Salem, Salma, Robbins, Sarah M, LM Sobreira, Nara, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Al Hamed, Sania, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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