A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
Demain, Leigh A M, Gerkes, Erica H, Smith, Richard J H, Molina-Ramirez, Leslie P, O'Keefe, Raymond T, Newman, William G
Published in Journal of human genetics (01.03.2020)
Published in Journal of human genetics (01.03.2020)
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Journal Article
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Journal Article
Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency
Demain, Leigh A.M., Metcalfe, Kay, Boetje, Eline, Clayton, Peter, Martindale, Elizabeth A., Busby, Gail, O'Keefe, Raymond T., Newman, William G.
Published in Reproductive biomedicine online (01.10.2022)
Published in Reproductive biomedicine online (01.10.2022)
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Journal Article
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency
Demain, Leigh A.M., Boetje, Eline, Edgerley, Jonathan J., Miles, Emma, Fitzgerald, Cheryl T., Busby, Gail, Beaman, Glenda M., O'Sullivan, James, O'Keefe, Raymond T., Newman, William G.
Published in Reproductive biomedicine online (01.11.2021)
Published in Reproductive biomedicine online (01.11.2021)
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Journal Article
A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak
McDermott, John H., Stoddard, Duncan, Woolf, Peter J., Ellingford, Jamie M., Gokhale, David, Taylor, Algy, Demain, Leigh A.M., Newman, William G., Black, Graeme
Published in The Journal of molecular diagnostics : JMD (01.05.2021)
Published in The Journal of molecular diagnostics : JMD (01.05.2021)
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Journal Article
Diagnosing and Preventing Hearing Loss in the Genomic Age
McDermott, John H., Molina-Ramírez, Leslie P, Bruce, Iain A, Mahaveer, Ajit, Turner, Mark, Miele, Gino, Body, Richard, Mahood, Rachel, Ulph, Fiona, MacLeod, Rhona, Harvey, Karen, Booth, Nicola, Demain, Leigh A. M., Wilson, Paul, Black, Graeme C., Morton, Cynthia C., Newman, William G
Published in Trends in Hearing (2019)
Published in Trends in Hearing (2019)
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Book Review
Journal Article
Marfanoid habitus is a nonspecific feature of Perrault syndrome
Zerkaoui, Maria, Demain, Leigh A M, Cherkaoui Jaouad, Imane, Ratbi, Ilham, Amjoud, Karima, Urquhart, Jill E, O'Sullivan, James, Newman, William G, Sefiani, Abdelaziz
Published in Clinical dysmorphology (01.10.2017)
Published in Clinical dysmorphology (01.10.2017)
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Journal Article
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Thomas, Huw B, Demain, Leigh A M, Cabrera-Orefice, Alfredo, Schrauwen, Isabelle, Shamseldin, Hanan E, Rea, Alessandro, Bharadwaj, Thashi, Smith, Thomas B, Oláhová, Monika, Thompson, Kyle, He, Langping, Kaur, Namanpreet, Shukla, Anju, Abukhalid, Musaad, Ansar, Muhammad, Rehman, Sakina, Riazuddin, Saima, Abdulwahab, Firdous, Smith, Janine M, Stark, Zornitza, Carrera, Samantha, Yue, Wyatt W, Munro, Kevin J, Alkuraya, Fowzan S, Jamieson, Peter, Ahmed, Zubair M, Leal, Suzanne M, Taylor, Robert W, Wittig, Ilka, O'Keefe, Raymond T, Newman, William G
Published in medRxiv : the preprint server for health sciences (11.10.2024)
Published in medRxiv : the preprint server for health sciences (11.10.2024)
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Journal Article