Surabhi Mulchandani

发表

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

N. Spinner, L. Gaunt, Yiping Shen, 2010, European journal of medical genetics.

A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice

N. Spinner, B. Bernhardt, R. Pyeritz, 2014, Journal of Genetic Counseling.

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

N. Spinner, B. Bernhardt, E. Giarelli, 2015, Journal of autism and developmental disorders.

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

N. Spinner, B. Bernhardt, E. Giarelli, 2015, Journal of Autism and Developmental Disorders.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

Ethan M. Goldberg, N. Spinner, I. Helbig, 2019, JAMA network open.

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

N. Spinner, R. Pyeritz, S. Mulchandani, 2013, Clinical Genetics.

Genomic variation: what does it mean?

B. Bernhardt, M. Reiff, Surabhi Mulchandani, 2013, LDI issue brief.

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Marian Reiff, Reed E. Pyeritz, Barbara A. Bernhardt, 2012, Genetics in Medicine.

Deletions and Other Structural Abnormalities of the Autosomes

N. Spinner, B. Emanuel, L. Conlin, 2013 .

“Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD

N. Spinner, B. Bernhardt, E. Giarelli, 2017, Journal of Autism and Developmental Disorders.

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

E. Zackai, N. Spinner, S. Saitta, 2013, American journal of medical genetics. Part A.

Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies

E. Zackai, N. Spinner, Minjie Luo, 2015, American journal of medical genetics. Part A.

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

N. Spinner, M. Reiff, Reed E. Pyeritz, 2013, Clinical genetics.

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families: Physicians' perspectives on microarray testing

N. Spinner, B. Bernhardt, R. Pyeritz, 2012 .