-
Kaur, M, Blair, J, Devkota, B, Fortunato, S, Clark, D, Lawrence, A, Kim, J, Do, W, Semeo, B, Katz, O, et al.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms.
American Journal of Medical Genetics Part A
191(8)
:
2113 -2131
2023
view publication
-
Kiss, S, Christodoulou, J, Thorburn, DR, Freeman, JL, Kornberg, AJ, Mandelstam, S, Compton, AG, Cummings, B, Pais, L, Yaplito‐Lee, J, et al.
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
American Journal of Medical Genetics Part A
191(6)
:
1599 -1606
2023
view publication
-
Smallwood, K, Watt, KEN, Ide, S, Baltrunaite, K, Brunswick, C, Inskeep, K, Capannari, C, Adam, MP, Begtrup, A, Bertola, DR, et al.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
American Journal of Human Genetics
110(5)
:
809 -825
2023
view publication
-
Scheffer, IE, Bennett, CA, Gill, D, Silva, MG, Boggs, K, Marum, J, Baker, N, Flagship, AGD, Palmer, EE, Howell, KB.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Developmental Medicine & Child Neurology
65(1)
:
50 -57
2023
view publication
-
Biesecker, LG, Adam, MP, Chung, BH, Kosaki, K, Menke, LA, White, SM, Carey, JC, Hennekam, RCM.
Elements of morphology: Standard terminology for the trunk and limbs.
American Journal of Medical Genetics Part A
188(11)
:
3191 -3228
2022
view publication