Search Results - Mohnish Suri

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  1. 1
    A clinical approach to developmental delay and intellectual disability

    A clinical approach to developmental delay and intellectual disability by Pradeep Vasudevan, Mohnish Suri

    Published 2017
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  2. 2
    Autosomal dominant inheritance of a heterozygous mutation in <i>SAMHD1</i> causing familial chilblain lupus

    Autosomal dominant inheritance of a heterozygous mutation in <i>SAMHD1</i> causing familial chilblain lupus by Jane Ravenscroft, Mohnish Suri, Gillian Rice, Marcin Szynkiewicz, Yanick J. Crow

    Published 2010
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  3. 3
    Longitudinal analysis of the neurological features of ataxia‐telangiectasia

    Longitudinal analysis of the neurological features of ataxia‐telangiectasia by Thomas J. Jackson, Gabriel Chow, Mohnish Suri, Philip J. Byrd, Malcolm Taylor, William Whitehouse

    Published 2016
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  4. 4
    Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q

    Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q by Abhijit Dixit, Kate Chandler, Margaret Lever, Rebecca Poole, H. Bullman, M.Z. Mughal, Margaret Steggall, Mohnish Suri

    Published 2012
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  5. 5
    Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

    Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome by Hessa S. Alsaif, Mohammad Al-Owain, Martin E. Barrios‐Llerena, Ghada Gosadi, Yousef Binamer, David Devadason, Jane Ravenscroft, Mohnish Suri, Fowzan S. Alkuraya

    Published 2019
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  6. 6
    Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

    Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia by Ivo Quack, Birgitta Vonderstraß, Michael Stock, A.S Aylsworth, Achim Becker, L A Brueton, Peter J. Lee, F. Majewski, JB Mulliken, Mohnish Suri, Martin Zenker, Stefan Mundlos, F Otto

    Published 1999
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  7. 7
    Activating mutations in <i>STIM1</i> and <i>ORAI1</i> cause overlapping syndromes of tubular myopathy and congenital miosis

    Activating mutations in <i>STIM1</i> and <i>ORAI1</i> cause overlapping syndromes of tubular myopathy and congenital miosis by Vasyl Nesin, Graham B. Wiley, Maria Kousi, E‐Ching Ong, Thomas Lehmann, David Nicholl, Mohnish Suri, Nortina Shahrizaila, Nicholas Katsanis, Patrick M. Gaffney, Klaas J. Wierenga, Leonidas Tsiokas

    Published 2014
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  8. 8
    Brittle cornea syndrome: recognition, molecular diagnosis and management

    Brittle cornea syndrome: recognition, molecular diagnosis and management by Emma MM Burkitt Wright, Louise F. Porter, Helen Spencer, Jill Clayton‐Smith, Leon Au, Francis L. Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes D.C. Manson, Graeme Black

    Published 2013
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  9. 9
    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome by Michelle Demos, Clara DM van Karnebeek, Colin J.D. Ross, Shelin Adam, Yaoqing Shen, Shing H. Zhan, Casper Shyr, Gabriella Horváth, Mohnish Suri, Alan Fryer, Steven J.M. Jones, Jan M. Friedman

    Published 2014
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  10. 10
    Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

    Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome by Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J. Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S. Stewart, A. Malcolm R. Taylor, Mark O’Driscoll, Penny A. Jeggo

    Published 2012
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  11. 11
    Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

    Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish by Mohamed S. Abdel‐Hamid, Adeline Paimboeuf, Maha S. Zaki, Fernanda Barbosa Figueiredo, Sherif F. Abdel‐Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros Nogueira Rojas, Fernando Kok, Mohnish Suri, César Augusto Pinheiro Ferreira Alves, Henry Houlden, Reza Maroofian, Shunmoogum A. Patten

    Published 2025
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  12. 12
    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans by Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Valérie Biancalana, Robert J. Gorlin, Denise Horn, Susan Kenwrick, Chong Ae Kim, Éva Morava, Ruth Newbury‐Ecob, Karen Helene Ørstavik, Oliver Quarrell, Charles E. Schwartz, Deborah Shears, Mohnish Suri, John Kendrick‐Jones, Andrew O.M. Wilkie

    Published 2003
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  13. 13
    Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

    Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans by A. Gulhan Ercan‐Sencicek, Samira Jambi, Daniel Franjic, S. Nishimura, Mingfeng Li, Paul El-Fishawy, Thomas M. Morgan, Stephan Sanders, Kaya Bilgüvar, Mohnish Suri, Michele H. Johnson, Abha R. Gupta, Zafer Yüksel, Shrikant Mane, Elena L. Grigorenko, Marina R. Picciotto, Arthur S. Alberts, Murat Günel, Nenad Šestan, Matthew W. State

    Published 2014
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  14. 14
    Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

    Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia by Katherine Schon, Nienke J.H. van Os, Nicholas Oscroft, Helen Baxendale, Daniel Scoffings, Julian Ray, Mohnish Suri, William Whitehouse, Puja R. Mehta, Natasha Everett, Leonardo Bottolo, Bart P.C. van de Warrenburg, Philip J. Byrd, Corry M.R. Weemaes, Michèl A.A.P. Willemsen, Marc Tischkowitz, A. Malcolm R. Taylor, Anke Hensiek

    Published 2018
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  15. 15
    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability by Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri

    Published 2017
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  16. 16
    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

    De Novo Mutations in YWHAG Cause Early-Onset Epilepsy by Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki, Eric Toyota, Margot I. Van Allen, Mohnish Suri, Frances Elmslie, Marleen Simon, Koen L.I. van Gassen, Delphine Héron, Boris Keren, Caroline Nava, Mary Connolly, Michelle Demos, Matthew J. Farrer, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Tara Candido, Patrice Eydoux, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Clara van Karnebeek, Suzanne Vercauteren

    Published 2017
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  17. 17
    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review by Milou G. P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen, Caroline Boelen, Carlo Marcelis, Bert B.A. de Vries, Mariet W. Elting, Quinten Waisfisz, Mohnish Suri, Esperanza Font–Montgomery, Dawn Peck, Deirdre E. Donnelly, R. Curtis Rogers, Ruth Richardson, Roseline Caumes, Boris Chaumette, Cécile Louveau, Suzanne C.E.H. Sallevelt, Saskia M. Maas, Jeroen J. Smits, Mieke M. van Haelst, Rebecca J. Levy, Helen Stewart, Bart Loeys, Rolph Pfundt, Tjitske Kleefstra, Lot Snijders Blok

    Published 2025
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  18. 18
    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations by Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas

    Published 2014
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  19. 19
    Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma

    Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma by Verena Matejas, Bernward Hinkes, Faisal Alkandari, Lihadh Al‐Gazali, E. Annexstad, Mehmet Baha Aytaç, Margaret Barrow, Květa Bláhová, Detlef Böckenhauer, Hae Il Cheong, Iwona Maruniak‐Chudek, Pierre Cochat, Jörg Dötsch, Priya Gajjar, Raoul C. M. Hennekam, Françoise Janssen, Mikhail Kagan, Ariana Kariminejad, Markus J. Kemper, Jens Koenig, Jillene Kogan, Hester Y. Kroes, Eberhard Kuwertz-Bröking, Amy Feldman Lewanda, Ana Medeira, Jutta Muscheites, Patrick Niaudet, Michel Pierson, Anand Saggar, Laurie Seaver, Mohnish Suri, А.Н. Цыгин, Elke Wühl, Aleksandra Żurowska, Steffen Uebe, Friedhelm Hildebrandt, Corinne Antignac, Martin Zenker

    Published 2010
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  20. 20
    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

    Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 by Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka

    Published 2021
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