Subhadra Ramanathan

发表

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

David R. Murdock, D. Hadley, P. Kruszka, 2018, Congenital anomalies.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

Multisuture Craniosynostosis Secondary to Intrauterine Constraint During Gestation in a Bicornuate Uterus

R. Clark, Subhadra Ramanathan, 2021, Neonatology Today.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Jill A. Madden, E. Roeder, A. Fatemi, 2021, Molecular genetics & genomic medicine.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

J. Lupski, R. Gibbs, D. Muzny, 2014, American journal of human genetics.

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R

M. Spence, A. Woodroffe, Moyra J. Smith, 2004, BMC Medical Genetics.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

C. Nellåker, F. Alkuraya, D. Lacombe, 2021, Clinical genetics.

The Positive Predictive Value of NIPT for 22q11 Deletion Syndrome Varies with the Indication

R. Clark, Subhadra Ramanathan, Nivedita Rajakumar, 2021, Neonatology Today.

Townes-Brocks Syndrome in an Infant with Familial Imperforate Anus

R. Clark, Subhadra Ramanathan, 2020 .

Kabuki Syndrome in a Newborn with a Complex Left-Sided Cardiac Lesion and Persistent Hypoglycemia due to Hyperinsulinism

R. Clark, Subhadra Ramanathan, 2020 .

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

DiGeorge anomaly associated with diabetic embryopathy in an infant without a deletion on chromosome 22q11

R. Clark, Subhadra Ramanathan, 2020 .

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

J. Lupski, R. Gibbs, A. Sabo, 2014, American journal of human genetics.