Search Results - Jhangiani, Shalini N.

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  1. 1
    Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

    Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome by Wild, K. Taylor, Gordon, Tia, Bhoj, Elizabeth J., Du, Haowei, Jhangiani, Shalini N., Posey, Jennifer E., Lupski, James R., Scott, Daryl A., Zackai, Elaine H.

    Published 2020
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  2. 2
    Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: clinical gene panels versus genome-wide approaches to molecular diagnosis

    Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: clinical gene panels versus genome-wide approaches to molecular diagnosis by Punetha, Jaya, Mackay-Loder, Loren, Harel, Tamar, Coban-Akdemir, Zeynep, Jhangiani, Shalini N, Gibbs, Richard A, Lee, Ian, Terespolsky, Deborah, Lupski, James R, Posey, Jennifer E

    Published 2018
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  3. 3
    Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI

    Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI by Bayram, Yavuz, Aydin, Hatip, Gambin, Tomasz, Akdemir, Zeynep Coban, Atik, Mehmed M., Karaca, Ender, Karaman, Ali, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R.

    Published 2015
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  4. 4
    Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

    Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia by Pehlivan, Davut, Karaca, Ender, Aydin, Hatip, Beck, Christine R, Gambin, Tomasz, Muzny, Donna M, Bilge Geckinli, B, Karaman, Ali, Jhangiani, Shalini N, Gibbs, Richard A, Lupski, James R

    Published 2014
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  5. 5
    Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

    Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle by Bainbridge, Matthew N, Cooney, Erin, Miller, Marcus, Kennedy, Adam, Wulff, Jacob, Donti, Taraka, Jhangiani, Shalini N, Gibbs, Richard A, Elsea, Sarah H., Porter, Brenda E., Graham, Brett H.

    Published 2017
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  6. 6
    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy by Oswiecimska, Joanna, Dawidziuk, Mateusz, Gambin, Tomasz, Ziora, Katarzyna, Marek, Marta, Rzonca, Sylwia, Guilbride, D. Lys, Jhangiani, Shalini N., Obuchowicz, Anna, Sikora, Alicja, Lupski, James R., Wiszniewski, Wojciech, Gawlinski, Pawel

    Published 2019
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  7. 7
    Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

    Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity by Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Akdemir, Zeynep H. Coban, Lupski, James R., Popek, Edwina, Stankiewicz, Paweł

    Published 2019
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  8. 8
    A COMPREHENSIVE CLINICAL AND GENETIC STUDY IN 127 PATIENTS WITH ID IN KINSHASA, DR CONGO

    A COMPREHENSIVE CLINICAL AND GENETIC STUDY IN 127 PATIENTS WITH ID IN KINSHASA, DR CONGO by Lumaka, Aimé, Race, Valerie, Peeters, Hilde, Corveleyn, Anniek, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Xiaofei, Song, Mubungu, Gerrye, Posey, Jennifer, Lupski, James R, Vermeesch, Joris R, Lukusa, Prosper, Devriendt, Koenraad

    Published 2018
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  9. 9
    First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

    First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis by Pedroza, Luis Alberto, Guerrero, Nina, Stray-Pedersen, Asbjørg, Tafur, Cristina, Macias, Roque, Muñoz, Greta, Akdemir, Zeynep Coban, Jhangiani, Shalini N., Watkin, Levi B., Chinn, Ivan K., Lupski, James R., Orange, Jordan S.

    Published 2017
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  10. 10
    Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

    Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia by Ramasamy, Ranjith, Bakircioğlu, M. Emre, Cengiz, Cenk, Karaca, Ender, Scovell, Jason, Jhangiani, Shalini N., Akdemir, Zeynep C., Bainbridge, Matthew, Yu, Yao, Huff, Chad, Gibbs, Richard A., Lupski, James R., Lamb, Dolores J.

    Published 2015
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  11. 11
    PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

    PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data by Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Hamosh, Ada, Sobreira, Nara

    Published 2021
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  12. 12
    PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies

    PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies by Gawlinski, Pawel, Posmyk, Renata, Gambin, Tomasz, Sielicka, Danuta, Chorazy, Monika, Nowakowska, Beata, Jhangiani, Shalini N., Muzny, Donna M., Bekiesinska-Figatowska, Monika, Bal, Jerzy, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Wiszniewski, Wojciech

    Published 2016
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  13. 13
    Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

    Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1) by Caramins, Melody, Colebatch, James G., Bainbridge, Matthew N., Scherer, Steven S., Abrams, Charles K., Hackett, Emma L., Freidin, Mona M., Jhangiani, Shalini N., Wang, Min, Wu, Yuanqing, Muzny, Donna M., Lindeman, Robert, Gibbs, Richard A.

    Published 2013
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  14. 14
    Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome

    Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome by Karaca, Ender, Yuregir, Ozge O., Bozdogan, Sevcan T., Aslan, Huseyin, Pehlivan, Davut, Jhangiani, Shalini N., Akdemir, Zeynep C., Gambin, Tomasz, Bayram, Yavuz, Atik, Mehmed M., Erdin, Serkan, Muzny, Donna, Gibbs, Richard A., Lupski, James R.

    Published 2015
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  15. 15
    Exome variant discrepancies due to reference-genome differences

    Exome variant discrepancies due to reference-genome differences by Li, He, Dawood, Moez, Khayat, Michael M., Farek, Jesse R., Jhangiani, Shalini N., Khan, Ziad M., Mitani, Tadahiro, Coban-Akdemir, Zeynep, Lupski, James R., Venner, Eric, Posey, Jennifer E., Sabo, Aniko, Gibbs, Richard A.

    Published 2021
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  16. 16
    Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

    Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy by Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.

    Published 2021
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  17. 17
    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome by Zhang, Chaofan., Mazzeu, Juliana F., Eisfeldt, Jesper, Grochowski, Christopher M., White, Janson, Akdemir, Zeynep C., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lindstrand, Anna, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.

    Published 2020
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  18. 18
    Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant

    Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant by Saad, Ahmed K., Marafi, Dana, Mitani, Tadahiro, Du, Haowei, Rafat, Karima, Fatih, Jawid M., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Gibbs, Richard A., Pehlivan, Davut, Hunter, Jill V., Posey, Jennifer E., Zaki, Maha S., Lupski, James R.

    Published 2021
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  19. 19
    Exome Sequencing in Children with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY)

    Exome Sequencing in Children with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY) by Tosur, Mustafa, Soler-Alfonso, Claudia, Chan, Katie M, Khayat, Michael M, Jhangiani, Shalini N, Meng, Qingchang, Refaey, Ahmad, Muzny, Donna, Gibbs, Richard A, Murdock, David R, Posey, Jennifer E, Balasubramanyam, Ashok, Redondo, Maria J, Sabo, Aniko

    Published 2021
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  20. 20
    Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

    Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2 by Sajan, Samin A., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Glaze, Daniel G., Kaufmann, Walter E., Skinner, Steven A., Anese, Fran, Friez, Michael J., Jane, Lane, Percy, Alan K., Neul, Jeffrey L.

    Published 2016
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