A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families von Demain, Leigh A M, Gerkes, Erica H, Smith, Richard J H, Molina-Ramirez, Leslie P, O'Keefe, Raymond T, Newman, William G

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Diagnosing and Preventing Hearing Loss in the Genomic Age von 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

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations von 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.

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Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency von Demain, Leigh A.M., Metcalfe, Kay, Boetje, Eline, Clayton, Peter, Martindale, Elizabeth A., Busby, Gail, O'Keefe, Raymond T., Newman, William G.

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Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency von 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.

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A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak von McDermott, John H., Stoddard, Duncan, Woolf, Peter J., Ellingford, Jamie M., Gokhale, David, Taylor, Algy, Demain, Leigh A.M., Newman, William G., Black, Graeme

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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype von Smith, Thomas B, Kopajtich, Robert, Demain, Leigh A M, Rea, Alessandro, Thomas, Huw B, Schiff, Manuel, Beetz, Christian, Joss, Shelagh, Conway, Gerard S, Shukla, Anju, Yeole, Mayuri, Radhakrishnan, Periyasamy, Azzouz, Hatem, Ben Chehida, Amel, Elmaleh-Bergès, Monique, Glasgow, Ruth I C, Thompson, Kyle, Oláhová, Monika, He, Langping, Jenkinson, Emma M, Jahic, Amir, Belyantseva, Inna A, Barzik, Melanie, Urquhart, Jill E, O'Sullivan, James, Williams, Simon G, Bhaskar, Sanjeev S, Carrera, Samantha, Blakes, Alexander J M, Banka, Siddharth, Yue, Wyatt W, Ellingford, Jamie M, Houlden, Henry, Munro, Kevin J, Friedman, Thomas B, Taylor, Robert W, Prokisch, Holger, O'Keefe, Raymond T, Newman, William G

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Marfanoid habitus is a nonspecific feature of Perrault syndrome von Zerkaoui, Maria, Demain, Leigh A M, Cherkaoui Jaouad, Imane, Ratbi, Ilham, Amjoud, Karima, Urquhart, Jill E, O'Sullivan, James, Newman, William G, Sefiani, Abdelaziz

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations von 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

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations von 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

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations von 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

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Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome von Faridi, R., Rehman, A.U., Morell, R.J., Friedman, P.L., Demain, L., Zahra, S., Khan, A.A., Tohlob, D., Assir, M.Z., Beaman, G., Khan, S.N., Newman, W.G., Riazuddin, S., Friedman, T.B.

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases von Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A., Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R., Fee, Timothy, Fletcher, Robin S., Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A., Jenkinson, Sarah, Lee, Jennifer A., Louie, Raymond J., Motazacker, M. Mahdi, Rzasa, Jessica, Stevenson, Roger E., Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K., Banka, Siddharth, Mannens, Marcel, Skinner, Steven A., Friez, Michael J., Campbell, Christopher, Tedder, Matthew L., Alders, Marielle, Sadikovic, Bekim

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