Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

por Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L., Crosby, Andrew H., Harlalka, Gaurav V., Gul, Asma
Publicado 2019

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

por Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.
Publicado 2018

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

por Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim
Publicado 2018

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

por Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma
Publicado 2019

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

por Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.
Publicado 2016

MNS1 variant associated with situs inversus and male infertility

por Leslie, Joseph S., Rawlins, Lettie E., Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Martina M. A., Crosby, Andrew H., Baple, Emma L.
Publicado 2019

Copy number variation of LINGO1 in familial dystonic tremor

por Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard, Lango Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T., Crosby, Andrew H.
Publicado 2019

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

por Lin, Siying, Sanchez-Bretaño, Aida, Leslie, Joseph S., Williams, Katie B., Lee, Helena, Thomas, N. Simon, Callaway, Jonathan, Deline, James, Ratnayaka, J. Arjuna, Baralle, Diana, Schmitt, Melanie A., Norman, Chelsea S., Hammond, Sheri, Harlalka, Gaurav V., Ennis, Sarah, Cross, Harold E., Wenger, Olivia, Crosby, Andrew H., Baple, Emma L., Self, Jay E.
Publicado 2022

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

por Bademci, Guney, Lachgar-Ruiz, María, Deokar, Mangesh, Zafeer, Mohammad Faraz, Abad, Clemer, Yildirim Baylan, Muzeyyen, Ingham, Neil J., Chen, Jing, Sineni, Claire J., Vadgama, Nirmal, Karakikes, Ioannis, Guo, Shengru, Duman, Duygu, Singh, Nitu, Harlalka, Gaurav, Jain, Shirish P., Chioza, Barry A., Walz, Katherina, Steel, Karen P., Nasir, Jamal, Tekin, Mustafa
Publicado 2022

Delineating the expanding phenotype associated with SCAPER gene mutation

por Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J., Hull, Sarah, Lane, Amelia, Robson, Anthony G., Wenger, Olivia, Self, Jay E., Harlalka, Gaurav V., Salter, Claire G., Schema, Lynn, Moss, Timothy J., Cheetham, Michael E., Moore, Anthony T., Raymond, F. Lucy, Chen, Rui, Baple, Emma L., Webster, Andrew R., Crosby, Andrew H.
Publicado 2019

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice

por Rawlins, Lettie E., Almousa, Hashem, Khan, Shazia, Collins, Stephan C., Milev, Miroslav P., Leslie, Joseph, Saint-Dic, Djenann, Khan, Valeed, Hincapie, Ana Maria, Day, Jacob O., McGavin, Lucy, Rowley, Christine, Harlalka, Gaurav V., Vancollie, Valerie E., Ahmad, Wasim, Lelliott, Christopher J., Gul, Asma, Yalcin, Binnaz, Crosby, Andrew H., Sacher, Michael, Baple, Emma L.
Publicado 2022

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

por Harlalka, Gaurav V., Lehman, Anna, Chioza, Barry, Baple, Emma L., Maroofian, Reza, Cross, Harold, Sreekantan-Nair, Ajith, Priestman, David A., Al-Turki, Saeed, McEntagart, Meriel E., Proukakis, Christos, Royle, Louise, Kozak, Radoslaw P., Bastaki, Laila, Patton, Michael, Wagner, Karin, Coblentz, Roselyn, Price, Joy, Mezei, Michelle, Schlade-Bartusiak, Kamilla, Platt, Frances M., Hurles, Matthew E., Crosby, Andrew H.
Publicado 2013

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

por Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.
Publicado 2017

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

por Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Pedro Fernandez-Murray, J, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H
Publicado 2017

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

por Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M., Smith, Jeffrey D., Tran, Linh, Al Turki, Saeed, Chioza, Barry A., Cross, Harold, Harlalka, Gaurav V., Hurles, Matthew E., Maroofian, Reza, Heaps, Adam D., Morton, Mary C., Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E., Zaritsky, Joshua, Campellone, Kenneth, Morton, D. Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A.
Publicado 2015

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

por Li, Lin, Jiao, Xiaodong, D’Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A., Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V., Michaelides, Michel, Moore, Anthony T., Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R., Cremers, Frans P. M., Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A., Riazuddin, Sheikh, Baple, Emma L., Riazuddin, S. Amer, Crosby, Andrew H., Hejtmancik, J. Fielding
Publicado 2018

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

por Zollo, Massimo, Ahmed, Mustafa, Ferrucci, Veronica, Salpietro, Vincenzo, Asadzadeh, Fatemeh, Carotenuto, Marianeve, Maroofian, Reza, Al-Amri, Ahmed, Singh, Royana, Scognamiglio, Iolanda, Mojarrad, Majid, Musella, Luca, Duilio, Angela, Di Somma, Angela, Karaca, Ender, Rajab, Anna, Al-Khayat, Aisha, Mohan Mohapatra, Tribhuvan, Eslahi, Atieh, Ashrafzadeh, Farah, Rawlins, Lettie E., Prasad, Rajniti, Gupta, Rashmi, Kumari, Preeti, Srivastava, Mona, Cozzolino, Flora, Kumar Rai, Sunil, Monti, Maria, Harlalka, Gaurav V., Simpson, Michael A., Rich, Philip, Al-Salmi, Fatema, Patton, Michael A., Chioza, Barry A., Efthymiou, Stephanie, Granata, Francesca, Di Rosa, Gabriella, Wiethoff, Sarah, Borgione, Eugenia, Scuderi, Carmela, Mankad, Kshitij, Hanna, Michael G., Pucci, Piero, Houlden, Henry, Lupski, James R., Crosby, Andrew H., Baple, Emma L.
Publicado 2017