Marwan S Shinawi (Marwan Shinawi, M Shinawi)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 26

Top Venues

Clinical genetics

Human mutation

Research square

European journal of human genetics : EJHG

Washington University School of Medicine in St. Louis

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Washington University School of Medicine in St. Louis Aug 30 2009

United States

Professor :: Pediatrics

Publications

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M Abdelrazek, Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aimé Z Lumaka, Naveed Wasif, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu, Rebekah L Waikel, Suzanna E Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Eric Olinger, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen W Gripp, Martin Mücke, Alain Verloes, Christian P Schaaf, Christoffer Nellåker, Benjamin D Solomon, Markus M Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter M Krawitz, Tzung-Chien Hsieh
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill A Rosenfeld, Laurence Faivre, Frederic Tran Mau-Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan S Shinawi, Chloe Mighton, Charlotte Fung, Chantal F Morel, Jordan Lerner-Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Alexander P A Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Giuseppe Zampino, Saskia B Wortmann, Johannes A Mayr, René G Feichtinger, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N Pichurin, Eric W Klee, Katheryn Grand, Pedro A Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E Eichler, Tartaglia Marco, Sébastien Küry, Tianyun Wang
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. Annals of neurology (2024)
Tzung-Chien Hsieh, Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Elaine Marchi, Maria Del Pilar Caro Martin, Ibrahim Abdelrazek, Jean Tori Pantel, Hannah Klinkhammer, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Pinheiro, Chong Ae Kim, Maria Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Martinez-Monseny, Matthias Höller, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adams, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri Zarate, Marcello Martinez, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Aimé Z Lumaka, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Ping Hu, Rebekah Waikel, Suzanna Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher Mak, Nursel Elcioglu, Ayca Aykut, Peli Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen Gripp, Martin Mücke, Alain Verloes, Christian Schaaf, Christoffer Nellåker, Benjamin Solomon, Markus Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter Krawitz, Hülya Kayserili, Louiza Toutouna, Axel Schmidt, Regina Roth, Dagmar Wieczorek, Eric Olinger
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M Abdelrazek, Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aimé Z Lumaka, Naveed Wasif, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu, Rebekah L Waikel, Suzanna E Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Eric Olinger, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen W Gripp, Martin Mücke, Alain Verloes, Christian P Schaaf, Christoffer Nellåker, Benjamin D Solomon, Markus M Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter M Krawitz, Tzung-Chien Hsieh
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Hussam Al-Kateb, P Y Billie Au, Siren Berland, Benjamin Cogne, Florence Demurger, Joel Fluss, Bertrand Isidor, L Matthew Frank, Konstantinos Varvagiannis, David A Koolen, Marie T McDonald, Sarah Montgomery, Stéphanie Moortgat, Marie Deprez, Deniz Karadurmus, Julie Paulsen, André Reis, Melissa Rieger, Georgia Vasileiou, Marcia Willing, Marwan S Shinawi
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. Clinical genetics (2023)
Lawrencia Kimera, Sameera Nadimpalli, Sudhi Kurup, F Sessions Cole, Russell Huang, Kathleen Sisco, Hantamalala Ranay Ranaivo, Marwan S Shinawi, Patricia Dickson, Ali Mian, Margaret M Reynolds, null Undiagnosed Diseases Network
Case report: ocular manifestations of a gain-of-function mutation in CLCN6 , a newly diagnosed disease. Ophthalmic genetics (2023)
Ibrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, Rodrigo Tzovenos Starosta, Keisuke Ueda, Bobby G Ng, Hudson H Freeze, Miao He, Marwan S Shinawi
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. Journal of inherited metabolic disease (2022)
Parith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, Kacie Riley, Dwight Koeberl, Vinodh Narayanan, Keri Ramsey, Chris Balak, Charles E Schwartz, Anna Maria Cueto-Gonzalez, Francina Munell Casadesus, Cheol-Hee Kim, Marwan S Shinawi
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord. Clinical genetics (2022)
Annelise Y Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C McKinstry, Marwan S Shinawi
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra. Neurology. Genetics 7 (1) (2021)
Margaret A Ferris, Amanda M Smith, Sharon E Heath, Eric J Duncavage, Matthew J Oberley, David R Freyer, Robert Wynn, Sofia Douzgou Houge, John M Maris, Anne F Reilly, Melinda Wu, Florence Choo, Roel B Fiets, Saskia Koene, David H Spencer, Christopher A Miller, Marwan S Shinawi, Timothy J Ley
DNMT3A Overgrowth Syndrome is associated with the development of hematopoietic malignancies in children and young adults. Blood (2021)
Aziz Shaibani, Shaida Khan, Marwan S Shinawi
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia. Neurology. Genetics 7 (4) (2021)
Chao Xing, Mohammed Kanchwala, Jonathan J Rios, Tommy Hyatt, Richard C Wang, An Tran, Irene Dougherty, Andrea Tovar-Garza, Christy Purnadi, Monique G Kumar, David Berk, Marwan S Shinawi, Alan D Irvine, Mirna Toledo-Bahena, Nnenna G Agim, Donald Alexander Glass
Biallelic variants in RNU12 cause CDAGS syndrome. Human mutation 42 (8) (2021)
Amanda M Smith, Taylor A LaValle, Marwan S Shinawi, Sai M Ramakrishnan, Haley J Abel, Cheryl A Hill, Nicole M Kirkland, Michael P Rettig, Nichole M Helton, Sharon E Heath, Francesca Ferraro, David Y Chen, Sangeeta Adak, Clay F Semenkovich, Diana L Christian, Jenna R Martin, Harrison W Gabel, Christopher A Miller, Timothy J Ley
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome. Nature communications 12 (1) (2021)
Kellan P Weston, Xiaoyi Gao, Jinghan Zhao, Kwang-Soo Kim, Susan E Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan S Shinawi, Joshua P Steimel, Joseph S Harrison, Jason J Yi
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis. Nature communications 12 (1) (2021)
Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena A Walkiewicz, Christopher D Putnam, Marwan S Shinawi, Nermina Saucier, Elise M Rizzi, Michael T Harmon, Molly P Keppel, Michelle Ritter, Morgan Similuk, Elaine Kulm, Michael Joyce, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Yi-Shan Lee, Marina Cella, Peggy L Kendall, Mary C Dinauer, Jeffrey J Bednarski, Christina Bemrich-Stolz, Scott W Canna, Shirley M Abraham, Matthew M Demczko, Jonathan L Powell, Stacie M Jones, Amy M Scurlock, Suk See De Ravin, Jack J Bleesing, James A Connelly, V Koneti Rao, Laura G Schuettpelz, Megan Anne Cooper
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. Blood 137 (18) (2021)
Roxanne L Simmons, Haiyan Li, Baris Alten, Magda S Santos, Ruiji Jiang, Brianna Paul, Sanam J Lalani, Audrey Cortesi, Kendall Parks, Nitin Khandelwal, Bethany Smith-Packard, Malay A Phoong, Michael Chez, Heather Fisher, Angela E Scheuerle, Marwan S Shinawi, Shaun A Hussain, Ege T Kavalali, Elliott H Sherr, Susan M Voglmaier
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment. Human mutation 41 (11) (2020)
Jorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, Kun Xia, Brad Angle, Kelly Bontempo, Judith D Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, Constanze T Stumpel, Margje Sinnema, Bianca Panis, Rolph Pfundt, Ingrid P C Krapels, Merel Klaassens, Joost Nicolai, Jinliang Li, Yuwu Jiang, Elysa Marco, Ana Canton, Ana Claudia Latronico, Luciana Montenegro, Bruno Leheup, Celine Bonnet, Shivarajan M Amudhavalli, Caitlin E Lawson, Kirsty McWalter, Aida Telegrafi, Richard Pearson, Malin Kvarnung, Xia Wang, Weimin Bi, Jill Anne Rosenfeld, Marwan S Shinawi
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. Journal of medical genetics 57 (10) (2020)
Lianne C Krab, Íñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R Fitzpatrick, Sanna Gudmundsson, Sylvia A Huisman, Tugba Kalayci, Saskia M Maas, Francisco Martinez Castellano, Margo Whiteford, Leonie A Menke, Paul A Mulder, Oliver D Murch, Michael Parker, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Jill Anne Rosenfeld, Emanuela Scarano, Marwan S Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C M Hennekam
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human genetics 139 (5) (2020)
Alicia Bach, Jingyi Mi, Matthew Hunter, Benjamin J Halliday, Sixto García-Miñaúr, Francesca Sperotto, Eva Trevisson, David M Markie, Ian M Morison, Marwan S Shinawi, Daniel N Willis, Stephen P Robertson
Wilms tumor in patients with osteopathia striata with cranial sclerosis. European journal of human genetics : EJHG 29 (3) (2020)
Kimberly Wiltrout, Alejandro Ferrer, Ingrid van de Laar, Kazuhiko Namekata, Takayuki Harada, Eric W Klee, Michael T Zimmerman, Margot A Cousin, Jennifer L Kempainen, Dusica Babovic-Vuksanovic, Marjon A van Slegtenhorst, Coranne D Aarts-Tesselaar, Rhonda E Schnur, Marisa Andrews, Marwan S Shinawi
Variants in DOCK3 cause developmental delay and hypotonia. European journal of human genetics : EJHG 27 (8) (2019)
David A Dyment, Paulien A Terhal, Cecilie F Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan S Shinawi, Sara Ellingwood, Rosemarie Smith, Koen van Gassen, Kirsty McWalter, A Micheil Innes, Matthew A Lines
De novo substitutions of TRPM3 cause intellectual disability and epilepsy. European journal of human genetics : EJHG 27 (10) (2019)
Daniel J Parente, Stephanie M Morris, Robert C McKinstry, Tracy Brandt, Elisabeth Gabau, Anna Ruiz, Marwan S Shinawi
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities. Clinical genetics 97 (3) (2019)
Alejandro F. Siller, Alex Shimony, Marwan S Shinawi, Ina Amarillo, Louis P. Dehner, Katherine Semenkovich, Ana Maria Arbelaez
Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome Journal of clinical research in pediatric endocrinology 11 (1) (2018)
Emily Brereton, Emily Fassi, Gabriel C Araujo, Jonathan Dodd, Aida Telegrafi, Sheel J Pathak, Marwan S Shinawi
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities. Molecular genetics & genomic medicine 6 (2) (2018)
Jorge L Granadillo, Wendy K Chung, Leah Hecht, Nicole Corsten-Janssen, Daniel Wegner, Sebastiaan W A Nij Bijvank, Tomi L Toler, Daniel E Pineda-Alvarez, Ganka Douglas, Joshua J Murphy, Joshua Shimony, Marwan S Shinawi
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Human mutation 39 (12) (2018)
H Dai, V W Zhang, A W El-Hattab, C Ficicioglu, Marwan S Shinawi, M Lines, A Schulze, M McNutt, G Gotway, X Tian, S Chen, J Wang, W J Craigen, L-J Wong
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clinical genetics 91 (4) (2017)

Marwan S Shinawi.css-eqlu8i{font-size:small;padding-left:4px;} (Marwan Shinawi, M Shinawi)

Publication Activity (10 Years)

Top Topics

Top Venues

Marwan S Shinawi (Marwan Shinawi, M Shinawi)