Isabella Herman

ORCID

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 9

Top Venues

American journal of medical genetics. Part A

Annals of neurology

Human mutation

Neuropediatrics

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

Publications

Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N Jhangiani, Jennifer E Posey, Richard A Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. American journal of medical genetics. Part A 188 (7) (2022)
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, Vernon Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R. Lupski
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of neurology 92 (2) (2022)
Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrahim Hegazy, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, James R. Lupski
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. American journal of medical genetics. Part A (2021)
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G Calame, Jill V Hunter, V Reid Sutton, Elif Yilmaz Gulec, Ruizhi Duan, Jawid M Fatih, Dana Marafi, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, null null, Shazia Maqbool, James R. Lupski, Henry Houlden
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American journal of medical genetics. Part A 185 (7) (2021)
Daniel G Calame, Jawid Fatih, Isabella Herman, Zeynep Coban Akdemir, Haowei Du, Shalini N Jhangiani, Richard A Gibbs, Dana Marafi, Davut Pehlivan, Jennifer E Posey, Timothy Lotze, Pedro Mancias, Meenakshi Bidwai Bhattacharjee, James R. Lupski
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. Neurology. Genetics 7 (3) (2021)
Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, David A Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T Darras, Robert J Graham, Parul Jayakar, Barry Byrne, Bat El Bar-Aluma, Yael Haberman, Amir Szeinberg, Hesham M Aldhalaan, Mais Hashem, Amal Al Tenaiji, Omar Ismayl, Asma E Al Nuaimi, Karima Maher, Shahnaz Ibrahim, Fatima Khan, Henry Houlden, Vijayalakshmi S Ramakumaran, Alistair T Pagnamenta, Jennifer E Posey, James R. Lupski, Wen-Hann Tan, Gehad ElGhazali, Isabella Herman, Tatiana Muñoz, Gabriela M Repetto, Angelika Seitz, Mandy Krumbiegel, Maria Cecilia Poli, Usha Kini, Stephanie Efthymiou, Jens Meiler, Reza Maroofian, Fowzan Sami Alkuraya, Rami Abou Jamra, Bernt Popp, Bruria Ben-Zeev, Darius Ebrahimi-Fakhari
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Human mutation 42 (6) (2021)
Daniel G Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dianna M Milewicz, Richard A Gibbs, Jennifer E Posey, Dana Marafi, Jill V Hunter, Yuxin Fan, James R. Lupski, Christina Y Miyake
Risk of sudden cardiac death in EXOSC5-related disease. American journal of medical genetics. Part A 185 (8) (2021)
Daniel G Calame, Isabella Herman, Brittnie Bartlett, Latanya Agurs, Brandon H Tran, Kimberly Houck
Apneic Seizures in a Child with Achondroplasia. Neuropediatrics 52 (5) (2021)
Daniel G Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Shalini N Jhangiani, Dana Marafi, Richard A Gibbs, Jennifer E Posey, Vidya P Mehta, Carrie A Mohila, Farida Abid, Timothy E Lotze, Davut Pehlivan, Adekunle M Adesina, James R. Lupski
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Annals of clinical and translational neurology 8 (10) (2021)

Isabella Herman.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Isabella Herman