Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician DDC Burkardt, JM Graham Jr, SS Short, PK Frykman Clinical pediatrics 53 (1), 71-81, 2014 | 80 | 2014 |
PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes S Cyrus, D Burkardt, DD Weaver, WT Gibson American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 63 | 2019 |
X-ray structure and temperature dependent luminescent properties of two bimetallic europium complexes S Swavey, JA Krause, D Collins, D D’Cunha, A Fratini Polyhedron 27 (3), 1061-1069, 2008 | 48 | 2008 |
Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25 DDC Burkardt, JA Rosenfeld, ML Helgeson, B Angle, V Banks, WE Smith, ... American Journal of Medical Genetics Part A 155 (6), 1336-1351, 2011 | 46 | 2011 |
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the … DDC Burkardt, A Zachariou, C Loveday, CL Allen, DJ Amor, A Ardissone, ... American Journal of Medical Genetics Part A 179 (10), 2049-2055, 2019 | 24 | 2019 |
Dinuclear lanthanide (III) complexes containing β-diketonate terminal ligands bridged by 2, 2′-bipyrimidine D D’Cunha, D Collins, G Richards, GS Vincent, S Swavey Inorganic Chemistry Communications 9 (10), 979-981, 2006 | 24 | 2006 |
Approach to overgrowth syndromes in the genome era DD Burkardt, K Tatton‐Brown, W Dobyns, JM Graham Jr American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 19 | 2019 |
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes F Pirozzi, B Lee, N Horsley, DD Burkardt, WB Dobyns, JM Graham Jr, ... American Journal of Medical Genetics Part A, 2021 | 18 | 2021 |
Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants L Pronman, M Rondinelli, DDC Burkardt, S Velayuthan, AS Khalili, ... Clinical pediatrics 58 (7), 819-824, 2019 | 16 | 2019 |
Hospital-based acute care after outpatient colonoscopy: implications for quality measurement in the ambulatory setting JP Fox, DDC Burkardt, I Ranasinghe, CP Gross Medical care, 801-808, 2014 | 13 | 2014 |
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? A Pennisi, A Rötig, CJ Roux, R Lévy, M Henneke, J Gärtner, PT Kisa, ... Journal of Medical Genetics, 2020 | 8 | 2020 |
Abnormal body size and proportion JM Graham Jr, DDC Burkardt, DL Rimoin Emery and Rimoin's principles and practice of medical genetics, 1-25, 2013 | 7 | 2013 |
HIST1H1E Syndrome D Burkardt, K Tatton-Brown | 5 | 2020 |
Thinking outside “The Box”: Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr PA Sanchez‐Lara, K Grand, MK Haanpää, CJ Curry, R Wang, F Ezgü, ... American Journal of Medical Genetics Part A, 2021 | 4 | 2021 |
PTPN4 germline variants result in aberrant neurodevelopment and growth JJ Chmielewska, D Burkardt, JL Granadillo, R Slaugh, S Morgan, ... Human Genetics and Genomics Advances 2 (3), 100033, 2021 | 3 | 2021 |
Abnormal Body Size and Proportion DDC Burkardt, JM Graham Jr Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics …, 2019 | 1 | 2019 |
A celebration in honor of John M. Graham, Jr, MD, ScD. D D'Cunha Burkardt, PA Sanchez-Lara, KM Girisha, JA Golden, JC Carey American Journal of Medical genetics. Part A, 2021 | | 2021 |
Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor DD Burkardt American Journal of Medical Genetics Part A, 2021 | | 2021 |
INVERSE PHENOTYPES OF FUNCTION AND MORPHOLOGY: INSIGHTS AND CHALLENGES DD Burkardt, JM Graham Jr, PA Sanchez-Lara, B Lee, K Tatton-Brown, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 182 (4), 901-901, 2020 | | 2020 |
PHENOTYPIC CHARACTERIZATION AND MANAGEMENT OF PATIENTS WITH RECURRENT MUTATION OF HIST1H1E: A SERIES OF 3 NEW CASES AND A REVIEW OF THE LITERATURE DD Burkardt, K Tatton-Brown, D Amor, MG Au, A McConkie-Rosell, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (4), 741-741, 2019 | | 2019 |