Deepika D'Cunha Burkardt (Deepika D Burkardt, Deepika Burkardt)

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 8

Top Topics

Intellectual Disability

Cerebrospinal Fluid

Multiple Sclerosis

Top Venues

American journal of medical genetics. Part A

American journal of medical genetics. Part C, Seminars in medical genetics

Molecular genetics & genomic medicine

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

Publications

Qizong Lao, Deepika D'Cunha Burkardt, Sarah Kollender, Fabio Rueda Faucz, Deborah P Merke
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera. Molecular genetics & genomic medicine (2023)
Filomena Pirozzi, Benson Lee, Nicole Horsley, Deepika D'Cunha Burkardt, William B Dobyns, John M Graham, Maria Lisa Dentici, Claudia Cesario, Jens Schallner, Joseph Porrmann, Nataliya Di Donato, Pedro A Sanchez-Lara, Ghayda M Mirzaa
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. American journal of medical genetics. Part A 185 (9) (2021)
Deepika D'Cunha Burkardt
Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor. American journal of medical genetics. Part A 185 (9) (2021)
Pedro A Sanchez-Lara, Katheryn Lynn Grand, Maria K Haanpää, Cynthia J Curry, Raymond Yu-Jeang Wang, Fatih Ezgü, Catherine M Rose, Deepika D'Cunha Burkardt, Robert L Conway, Anju Relan, John C Carey
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr. American journal of medical genetics. Part A 185 (9) (2021)
Deepika D'Cunha Burkardt, Pedro A Sanchez-Lara, Katta M Girisha, Jeffrey A Golden, John C Carey
A celebration in honor of John M. Graham, Jr, MD, ScD. American journal of medical genetics. Part A 185 (9) (2021)
Sharri S Cyrus, Deepika D'Cunha Burkardt, David D Weaver, William T Gibson
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Deepika D'Cunha Burkardt, Katrina Tatton-Brown, William B Dobyns, John M Graham
Approach to overgrowth syndromes in the genome era. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)
Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, Clare L Allen, David J Amor, Anna Ardissone, Siddharth Banka, Alexia Bourgois, Christine Coubes, Cheryl Cytrynbaum, Laurence Olivier-Faivre, Gerard Marion, Rachel Horton, Dieter Kotzot, Guillermo Lay-Son, Melissa Lees, Karen Jaqueline Low, Ho-Ming Luk, Paul Mark, Allyn McConkie-Rosell, Marie McDonald, John G Pappas, Christophe Phillipe, Deborah Shears, Brian Skotko, Fiona Stewart, Helen Stewart, I Karen Temple, Frederic T Mau-Them, Ricardo A Verdugo, Rosanna Weksberg, Yuri A Zarate, John M Graham, Katrina Tatton-Brown
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. American journal of medical genetics. Part A 179 (10) (2019)