Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
Germain, Dominique P, Oliveira, João Paulo, Bichet, Daniel G, Yoo, Han-Wook, Hopkin, Robert J, Lemay, Roberta, Politei, Juan, Wanner, Christoph, Wilcox, William R, Warnock, David G
Published in Journal of medical genetics (01.08.2020)
Published in Journal of medical genetics (01.08.2020)
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Journal Article
The genetic landscape of familial congenital hydrocephalus
Shaheen, Ranad, Sebai, Mohammed Adeeb, Patel, Nisha, Ewida, Nour, Kurdi, Wesam, Altweijri, Ikhlass, Sogaty, Sameera, Almardawi, Elham, Seidahmed, Mohammed Zain, Alnemri, Abdulrahman, Madirevula, Sateesh, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Sallout, Bahauddin, AlBaqawi, Badi, AlAali, Wajeih, Ajaji, Nouf, Lesmana, Harry, Hopkin, Robert J., Dupuis, Lucie, Mendoza‐Londono, Roberto, Al Rukban, Hadeel, Yoon, Grace, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Annals of neurology (01.06.2017)
Published in Annals of neurology (01.06.2017)
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Journal Article
Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease
Hamed, Alaa, DasMahapatra, Pronabesh, Lyn, Nicole, Gwaltney, Chad, Hopkin, Robert J
Published in Orphanet journal of rare diseases (25.06.2021)
Published in Orphanet journal of rare diseases (25.06.2021)
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Journal Article
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Twigg, Stephen R.F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J., Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B., Curry, Cynthia J., Jones, Marilyn C., Wilkie, Andrew O.M.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1
Prada, Carlos E., MD, Rangwala, Fatima A., MD, Martin, Lisa J., PhD, Lovell, Anne M., MSN, CNP, Saal, Howard M., MD, Schorry, Elizabeth K., MD, Hopkin, Robert J., MD
Published in The Journal of pediatrics (01.03.2012)
Published in The Journal of pediatrics (01.03.2012)
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Journal Article
The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1
Prada, Carlos E., MD, Hufnagel, Robert B., MD, PhD, Hummel, Trent R., MD, Lovell, Anne M., MSN, CNP, Hopkin, Robert J., MD, Saal, Howard M., MD, Schorry, Elizabeth K., MD
Published in The Journal of pediatrics (01.10.2015)
Published in The Journal of pediatrics (01.10.2015)
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Journal Article
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome
Lindsley, Andrew W., MD, PhD, Saal, Howard M., MD, Burrow, Thomas A., MD, Hopkin, Robert J., MD, Shchelochkov, Oleg, MD, Khandelwal, Pooja, MD, Xie, Changchun, PhD, Bleesing, Jack, MD, PhD, Filipovich, Lisa, MD, Risma, Kimberly, MD, PhD, Assa'ad, Amal H., MD, Roehrs, Phillip A., MD, Bernstein, Jonathan A., MD
Published in Journal of allergy and clinical immunology (01.01.2016)
Published in Journal of allergy and clinical immunology (01.01.2016)
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Journal Article
Congenital Hypothyroidism: Screening and Management
Rose, Susan R, Wassner, Ari J, Wintergerst, Kupper A, Yayah-Jones, Nana-Hawa, Hopkin, Robert J, Chuang, Janet, Smith, Jessica R, Abell, Katherine, LaFranchi, Stephen H
Published in Pediatrics (Evanston) (01.01.2023)
Published in Pediatrics (Evanston) (01.01.2023)
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Journal Article
Acrofacial dysostosis, Cincinnati type: a mandibulofacial dysostosis syndrome with limb anomalies caused by POLR1A dysfunction
Weaver, K. Nicole, Noack Watt, Kristin E., Hufnagel, Robert B., Acedo, Joaquin Navajas, Linscott, Luke L., Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R., Trainor, Paul A., Wieczorek, Dagmar, Saal, Howard M.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Journal Article
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
HOPKIN, Robert J, BISSLER, John, BANIKAZEMI, Maryam, CLARKE, Lorne, ENG, Christine M, GERMAIN, Dominique P, LEMAY, Roberta, TYLKI-SZYMANSKA, Anna, WILCOX, William R
Published in Pediatric research (01.11.2008)
Published in Pediatric research (01.11.2008)
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Journal Article
Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13
Russell, Bianca E., Whaley, Kaitlin G., Bove, Kevin E., Labilloy, Anatalia, Lombardo, Rachel C., Hopkin, Robert J., Leslie, Nancy D., Prada, Carlos, Assouline, Zahra, Barcia, Giulia, Bouchereau, Juliette, Chomton, Maryline, Debray, Dominique, Dorboz, Imen, Durand, Philippe, Gaignard, Pauline, Habes, Dalila, Jardel, Claude, Labarthe, François, Lévy, Jonathan, Lombès, Anne, Mehler‐Jacob, Claire, Melki, Judith, Menvielle, Laura, Munnich, Arnold, Mussini, Charlotte, Pichard, Samia, Rio, Marlène, Rötig, Agnès, Sissaoui, Samira, Slama, Abdelhamid, Miethke, Alexander G, Schiff, Manuel
Published in Hepatology (Baltimore, Md.) (01.09.2019)
Published in Hepatology (Baltimore, Md.) (01.09.2019)
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Journal Article
Complex genomic rearrangements of the Y chromosome in a premature infant
Balow, Stephanie A, Coyan, Alyxis G, Smith, Nicki, Russell, Bianca E, Monteil, Danielle, Hopkin, Robert J, Smolarek, Teresa A
Published in Molecular cytogenetics (26.08.2024)
Published in Molecular cytogenetics (26.08.2024)
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Journal Article
Arrhythmia and Clinical Cardiac Findings in Children With Anderson-Fabry Disease
Wilson, Hunter C., MD, Hopkin, Robert J., MD, Madueme, Peace C., MD, Czosek, Richard J., MD, Bailey, Laurie A., LGC, Taylor, Michael D., MD, PhD, Jefferies, John L., MD
Published in The American journal of cardiology (15.07.2017)
Published in The American journal of cardiology (15.07.2017)
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Journal Article
Renal complications of Fabry disease in children
Najafian, Behzad, Mauer, Michael, Hopkin, Robert J., Svarstad, Einar
Published in Pediatric nephrology (Berlin, West) (01.05.2013)
Published in Pediatric nephrology (Berlin, West) (01.05.2013)
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Journal Article
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial
Wijburg, Frits A, Bénichou, Bernard, Bichet, Daniel G, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, An Haack, Kristina, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tøndel, Camilla, Tylki-Szymańska, Anna, Ramaswami, Uma
Published in PloS one (08.05.2015)
Published in PloS one (08.05.2015)
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Journal Article
Contributions to Racial Disparity in Mortality among Children with Down Syndrome
Santoro, Stephanie L., MD, Esbensen, Anna J., PhD, Hopkin, Robert J., MD, Hendershot, Lesly, PsyD, Hickey, Francis, MD, Patterson, Bonnie, MD
Published in The Journal of pediatrics (01.07.2016)
Published in The Journal of pediatrics (01.07.2016)
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Journal Article
Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia
Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, Moura, Priscila Padilha, Garib, Daniela Gamba, Munnich, Arnold, Ernfors, Patrik, Hufnagel, Robert B., Hopkin, Robert J., Kurihara, Hiroki, Saal, Howard M., Weaver, David D., Katsanis, Nicholas, Lyonnet, Stanislas, Golzio, Christelle, Clouthier, David E., Amiel, Jeanne
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Journal Article
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Bichet, Daniel G., Hopkin, Robert J., Aguiar, Patrício, Allam, Sridhar R., Chien, Yin-Hsiu, Giugliani, Roberto, Kallish, Staci, Kineen, Sabina, Lidove, Olivier, Niu, Dau-Ming, Olivotto, Iacopo, Politei, Juan, Rakoski, Paul, Torra, Roser, Tøndel, Camilla, Hughes, Derralynn A.
Published in Frontiers in medicine (01.09.2023)
Published in Frontiers in medicine (01.09.2023)
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Journal Article