Himanshu Goel

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Topics

African American

Intellectual Disability

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Neurology. Genetics

Clinical genetics

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

Publications

Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Michael Stephen Hildebrand, Ruth O Braden, Mariana L Lauretta, Antony Kaspi, Richard J Leventer, Melinda Anderson, Himanshu Goel, Melanie Bahlo, Ingrid Eileen Scheffer, David J Amor, Robert Janowski, Dierk Niessing, Angela T Morgan
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder. Neurology. Genetics 10 (5) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh, Peter M Krawitz, Jason Pinner, Himanshu Goel
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion. American journal of medical genetics. Part A (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Himanshu Goel, Sheridan O'Donnell, Matthew Edwards
EED related overgrowth: First report of multiple members in a single family. American journal of medical genetics. Part A (2023)
Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J Amor, Greg B Peters, Michael J Field, Tracy Dudding
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance. Clinical genetics (2023)
Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J Amor, Greg B Peters, Michael J Field, Tracy Dudding
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance. Clinical genetics (2023)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Sameer Dal, Bruce Hopper, Maureen Van Rossum du Chattel, Himanshu Goel
A case of White-Sutton syndrome with previously described loss-of-function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome. American journal of medical genetics. Part A 185 (3) (2020)
Tess Donoghue, Lauren Garrity, Andrew Ziolkowski, Mary McPhillips, Melissa Buckman, Himanshu Goel
Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations. American journal of medical genetics. Part A 182 (7) (2020)
Heidi Goldsmith, Anna Wells, Maria J N Sá, Mark Williams, Helen Heussler, Melissa Buckman, Rolph Pfundt, Bert B A de Vries, Himanshu Goel
Expanding the phenotype of intellectual disability caused by HIVEP2 variants. American journal of medical genetics. Part A 179 (9) (2019)