Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Somashekar, Puneeth H., Kaur, Parneet, Stephen, Joshi, Guleria, Vishal Singh, Kadavigere, Rajagopal, Girisha, Katta Mohan, Bielas, Stephanie, Upadhyai, Priyanka, Shukla, Anju
Published in Clinical genetics (01.04.2021)
Published in Clinical genetics (01.04.2021)
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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
Power, Bradley, Ferreira, Carlos R, Chen, Dong, Zein, Wadih M, O'Brien, Kevin J, Introne, Wendy J, Stephen, Joshi, Gahl, William A, Huizing, Marjan, Malicdan, May Christine V, Adams, David R, Gochuico, Bernadette R
Published in Orphanet journal of rare diseases (21.02.2019)
Published in Orphanet journal of rare diseases (21.02.2019)
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Journal Article
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J, O'Brien, Kevin J, Nicoli, Elena-Raluca, Brooks, Brian P, Huryn, Laryssa, Titus, Steven A, Adams, David R, Chen, Dong, Gahl, William A, Gochuico, Bernadette R, Malicdan, May Christine V
Published in PloS one (15.03.2017)
Published in PloS one (15.03.2017)
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Journal Article
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Ates, Kristin M, Wang, Tong, Moreland, Trevor, Veeranan-Karmegam, Rajalakshmi, Ma, Manxiu, Jeter, Chelsi, Anand, Priya, Wenzel, Wolfgang, Kim, Hyung-Goo, Wolfe, Lynne A, Stephen, Joshi, Adams, David R, Markello, Thomas, Tifft, Cynthia J, Settlage, Robert, Gahl, William A, Gonsalvez, Graydon B, Malicdan, May Christine, Flanagan-Steet, Heather, Pan, Y Albert
Published in Disease models & mechanisms (26.05.2020)
Published in Disease models & mechanisms (26.05.2020)
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Journal Article
Diagnosis of Chediak Higashi disease in a 67‐year old woman
Yarnell, David S., Roney, Joseph C., Teixeira, Cláudia, Freitas, Maria I., Cipriano, Ana, Leuschner, Pedro, Krzewski, Konrad, Stephen, Joshi, Dorward, Heidi, Gahl, William A., Gochuico, Bernadette R., Toro, Camilo, Malicdan, May C., Introne, Wendy J.
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy
Stephen, Joshi, Nampoothiri, Sheela, Banerjee, Aditi, Tolman, Nathanial J., Penninger, Josef Martin, Elling, Ullrich, Agu, Chukwuma A., Burke, John D., Devadathan, Kalpana, Kannan, Rajesh, Huang, Yan, Steinbach, Peter J., Martinis, Susan A., Gahl, William A., Malicdan, May Christine V.
Published in Human genetics (01.04.2018)
Published in Human genetics (01.04.2018)
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Journal Article
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
Vilboux, Thierry, Malicdan, May Christine V., Roney, Joseph C., Cullinane, Andrew R., Stephen, Joshi, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Steinbach, Peter J., Gahl, William A., Gunay‐Aygun, Meral
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Journal Article
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S, Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Frontiers in genetics (08.03.2023)
Published in Frontiers in genetics (08.03.2023)
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Journal Article
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia
Stephen, Joshi, Nampoothiri, Sheela, Kuppa, Srikar, Yesodharan, Dhanya, Radhakrishnan, Natasha, Gahl, William A., Malicdan, May Christine V.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report
Stephen, Joshi, Nampoothiri, Sheela, Vinayan, K P, Yesodharan, Dhanya, Remesh, Preetha, Gahl, William A, Malicdan, May Christine V
Published in BMC medical genetics (16.05.2018)
Published in BMC medical genetics (16.05.2018)
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Journal Article
Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development
Ates, Kristin M, Wang, Tong, Moreland, Trevor, Veeranan-Karmegam, Rajalakshmi, Ma, Manxiu, Jeter, Chelsi, Anand, Priya, Wenzel, Wolfgang, Kim, Hyung-Goo, Wolfe, Lynne A, Stephen, Joshi A, Adams, David R, Markello, Thomas, Tifft, Cynthia J, Settlage, Robert, Gahl, William A, Gonsalvez, Graydon B, Malicdan, May Christine, Flanagan-Steet, Heather, Pan, Y Albert
Published in Disease models & mechanisms (01.01.2020)
Published in Disease models & mechanisms (01.01.2020)
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Journal Article
Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy
Garland, Jennifer, Stephen, Joshi, Class, Bradley, Gruber, Angela, Ciccone, Carla, Poliak, Aaron, Hayes, Christina P., Singhal, Vandana, Slota, Christina, Perreault, John, Gavrilova, Ralitza, Shrader, Joseph A., Chittiboina, Prashant, Joe, Galen, Heiss, John, Gahl, William A., Huizing, Marjan, Carrillo, Nuria, Malicdan, May Christine V.
Published in Molecular genetics & genomic medicine (01.07.2017)
Published in Molecular genetics & genomic medicine (01.07.2017)
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Journal Article
Biallelic SCN 10A mutations in neuromuscular disease and epileptic encephalopathy
Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Published in Annals of clinical and translational neurology (01.01.2017)
Published in Annals of clinical and translational neurology (01.01.2017)
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Journal Article
A POLR3B -variant reveals a Pol III transcriptome response dependent on La protein/SSB
Mattijssen, Sandy, Kerkhofs, Kyra, Stephen, Joshi, Yang, Acong, Han, Chen G, Tadafumi, Yokoyama, Iben, James R, Mishra, Saurabh, Sakhawala, Rima M, Ranjan, Amitabh, Gowda, Mamatha, Gahl, William A, Gu, Shuo, Malicdan, May C, Maraia, Richard J
Published in bioRxiv (05.02.2024)
Published in bioRxiv (05.02.2024)
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Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Somashekar, Puneeth H., Kaur, Parneet, Stephen, Joshi, Guleria, Vishal Singh, Kadavigere, Rajagopal, Girisha, Katta Mohan, Bielas, Stephanie, Upadhyai, Priyanka, Shukla, Anju
Published in Clinical genetics (01.04.2021)
Published in Clinical genetics (01.04.2021)
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Journal Article
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy
Barel, Ortal, Malicdan, May Christine V, Ben-Zeev, Bruria, Kandel, Judith, Pri-Chen, Hadass, Stephen, Joshi, Castro, Inês G, Metz, Jeremy, Atawa, Osama, Moshkovitz, Sharon, Ganelin, Esther, Barshack, Iris, Polak-Charcon, Sylvie, Nass, Dvora, Marek-Yagel, Dina, Amariglio, Ninette, Shalva, Nechama, Vilboux, Thierry, Ferreira, Carlos, Pode-Shakked, Ben, Heimer, Gali, Hoffmann, Chen, Yardeni, Tal, Nissenkorn, Andreea, Avivi, Camila, Eyal, Eran, Kol, Nitzan, Glick Saar, Efrat, Wallace, Douglas C, Gahl, William A, Rechavi, Gideon, Schrader, Michael, Eckmann, David M, Anikster, Yair
Published in Brain (London, England : 1878) (01.03.2017)
Published in Brain (London, England : 1878) (01.03.2017)
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Journal Article
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
Malicdan, May Christine V, Vilboux, Thierry, Stephen, Joshi, Maglic, Dino, Mian, Luhe, Konzman, Daniel, Guo, Jennifer, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Zein, Wadih M, Snow, Joseph, Vemulapalli, Meghana, Mullikin, James C, Toro, Camilo, Solomon, Benjamin D, Niederhuber, John E, Gahl, William A, Gunay-Aygun, Meral
Published in Journal of medical genetics (01.12.2015)
Published in Journal of medical genetics (01.12.2015)
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Journal Article
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
Stephen, Joshi, Vilboux, Thierry, Mian, Luhe, Kuptanon, Chulaluck, Sinclair, Courtney M., Yildirimli, Deniz, Maynard, Dawn M., Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Huizing, Marjan, Gahl, William A., Malicdan, May Christine V., Gunay-Aygun, Meral
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
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Journal Article
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
Stephen, Joshi, Vilboux, Thierry, Haberman, Yael, Pri-Chen, Hadass, Pode-Shakked, Ben, Mazaheri, Sina, Marek-Yagel, Dina, Barel, Ortal, Di Segni, Ayelet, Eyal, Eran, Hout-Siloni, Goni, Lahad, Avishay, Shalem, Tzippora, Rechavi, Gideon, Malicdan, May Christine V, Weiss, Batia, Gahl, William A, Anikster, Yair
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
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