A. Dwivedi

发表

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

D. Horn, S. Mundlos, M. Spielmann, 2015, Journal of Medical Genetics.

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal

F. Bartel, B. Dupont, K. Corning, 2011, American journal of medical genetics. Part A.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Paola Visconti, Marcella Zollino, Luigi Boccuto, 2012, European Journal of Human Genetics.

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

E. Fung, M. Lyons, M. Friez, 2014, Molecular Cytogenetics.

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

J. Sharp, L. Boccuto, B. Dupont, 2014, Human Genetics.

Clinical utility of the X‐chromosome array

M. Bellomo, R. Stevenson, M. Lyons, 2013, American Journal of Medical Genetics. Part A.

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)

Luigi Boccuto, R. C. Rogers, L. Boccuto, 2011, Journal of Medical Genetics.

Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome

M. Lyons, B. Dupont, S. Cathey, 2014, American journal of medical genetics. Part A.

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan–McDermid syndrome

J. Sharp, R. C. Rogers, L. Boccuto, 2013, Genetics in Medicine.

Severe Hunter Syndrome (Mucopolysaccharidosis II) Phenotype Secondary to Large Deletion in the X Chromosome Encompassing IDS, FMR1, and AFF2 (FMR2)

K. Holden, T. Wood, Lesby Espinoza, 2012, Journal of child neurology.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

C. Schwartz, K. Boycott, D. Bulman, 2011, European Journal of Human Genetics.

The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

Hyung-Goo Kim, L. Layman, Kyungsoo Ha, 2014, American journal of medical genetics. Part A.

Deletion of 16q24.1 Supports a Role for the ATP2C2 Gene in Specific Language Impairment

M. Lyons, B. Dupont, K. Holden, 2015, Journal of child neurology.

Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.

M. Lyons, B. Dupont, K. Holden, 2014, Pediatric neurology.

LIS1 Duplication

M. Lyons, M. Matheus, K. Holden, 2012, Journal of child neurology.

The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients

Hyung-Goo Kim, L. Layman, Kyungsoo Ha, 2014, American journal of medical genetics. Part A.

Clinical and genomic evaluation of 201 patients with Phelan–McDermid syndrome

L. Boccuto, K. Phelan, J. D. Rollins, 2014, Human Genetics.

Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome

B. Dupont, S. Cathey, K. Holden, 2014, American journal of medical genetics. Part A.

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal

F. Bartel, B. Dupont, K. Corning, 2011, American journal of medical genetics. Part A.