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R. Conway · SciRah

Researcher profile · Semantic Scholar

R. Conway

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R. Conway — researcher profile on SciRah

h-index: 16
Works: 44
Citations: 1,939

Most-cited papers

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
J. Rivière, G. Mirzaa, B. O'Roak, Margaret Beddaoui +36 more
2012Nature Genetics695 citations Open access
Semantic Scholar
Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
G. Mirzaa, R. Conway, K. Gripp, T. Lerman-Sagie +7 more
2012American Journal of Medical Genetics. Part A218 citations Open access
Semantic Scholar
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2
B. Ballif, Sara A Hornor, E. Jenkins, Suneeta Madan-Khetarpal +15 more
2007Nature Genetics210 citations
Semantic Scholar
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G. Mirzaa, A. Timms, V. Conti, E. Boyle +56 more
2016JCI Insight168 citations Open access
Semantic Scholar
Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients
R. Conway, B. Pressman, W. Dobyns, M. Danielpour +16 more
2007American Journal of Medical Genetics. Part A127 citations Open access
Semantic Scholar
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease
S. Banugaria, S. Prater, J. McGann, J. Feldman +8 more
2012Genetics in Medicine90 citations Open access
Semantic Scholar
Triheptanoin Treatment in Patients with Pediatric Cardiomyopathy Associated with Long Chain-Fatty Acid Oxidation Disorders
J. Vockley, J. Charrow, Jaya Ganesh, M. Eswara +9 more
2016Molecular Genetics and Metabolism76 citations Open access
Semantic Scholar
PIK3CA-Related Segmental Overgrowth
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
201376 citations
Semantic Scholar
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years
A. Jay, R. Conway, G. Feldman, Fatimah A. Nahhas +2 more
2014Genetics in Medicine47 citations Open access
Semantic Scholar
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A
Allison Jay, R. Conway, I. Thiffault, C. Saunders +3 more
2016American Journal of Medical Genetics. Part A39 citations
Semantic Scholar
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation‐Ip
C. Thiel, N. Rind, D. Popovici, G. Hoffmann +10 more
2012Human Mutation37 citations Open access
Semantic Scholar
An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions
A. El-Gharbawy, J. Mackey, S. Dearmey, G. Westby +4 more
2011Molecular Genetics and Metabolism37 citations Open access
Semantic Scholar
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.
H. Li, L. Spencer, F. Nahhas, J. Miller +4 more
2014Molecular Genetics and Metabolism25 citations
Semantic Scholar
Methylmalonic Acidemia (MMA) in pregnancy: A case series and literature review
Donna B. Raval, M. Merideth, J. Sloan, N. Braverman +3 more
2015Journal of Inherited Metabolic Disease23 citations Open access
Semantic Scholar
Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases.
R. Conway, M. Danielpour, J. Graham
2007Journal of Neurosurgery18 citations
Semantic Scholar
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
N. Longo, G. Diaz, U. Lichter-Konecki, A. Schulze +12 more
2020Molecular Genetics and Metabolism16 citations Open access
Semantic Scholar
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
R. Ahrens-Nicklas, R. Ganetzky, P. Rush, R. Conway +1 more
2018Journal of Inherited Metabolic Disease9 citations Open access
Semantic Scholar
A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines
Elizabeth G. Ames, A. Scott, Kara B Pappas, Shawn Moloney +2 more
2020American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan
Kuntal Sen, M. D. Felice, A. Bannick, R. Colombo +1 more
2019Journal of Pediatric Genetics5 citations Open access
Semantic Scholar
Thinking outside “The Box”: Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr
P. Sanchez-Lara, Katheryn L. Grand, M. Haanpää, C. Curry +7 more
2021American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
Risk Factors for Dysphagia Following a Cervical Fusion in a Trauma Population
K. Cameron, Michael H. Lawless, R. Conway, Gijong Paik +3 more
2018Cureus4 citations Open access
Semantic Scholar
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening
Kara B Pappas, Marissa Younan, R. Conway
2022American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
R. Ahrens-Nicklas, R. Ganetzky, P. Rush, R. Conway +1 more
2018Journal of Inherited Metabolic Disease3 citations Open access
Semantic Scholar
Cerebro-oculo-nasal syndrome with schizencephaly: a case report and literature review of CNS malformations in a very rare syndrome
Daniel J. Pomerantz, Jacob Lynn, P. Dave, R. Conway
20212 citations
Semantic Scholar
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia
Ying Liu, A. Sidhu, Lora J. H. Bean, R. Conway +1 more
2015Clinica chimica acta; international journal of clinical chemistry2 citations Open access
Semantic Scholar
ELEVATION OF HEPTADECANOYLCARNITINE DETECTED VIA NEWBORN SCREENING IS A STRONG PREDICTOR OF NEONATAL-ONSET DISEASE AMONG INBORN ERRORS OF METABOLISM AFFECTING PROPIONYLCARNITINE METABOLISM
R. Conway, S. Moloney, A. Bannick, Kara B Pappas +1 more
2022Molecular Genetics and Metabolism1 citations
Semantic Scholar
P478: Genetic insights into Snijders Blok-Campeau Syndrome: A case study of a homozygous CHD3 variant and comorbidities
Megan L. Harrison, S. Reeves, R. Conway, Christina Sloan-Heggen
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC COMPARED TO CITRULLINE IN SCREENING FOR ARGININOSUCCINIC ACID LYASE DEFICIENCY VIA NEWBORN SCREENING: MICHIGAN'S 10 YEARS OF EXPERIENCE
Elisheva Ellenberg, Shagun Kaur, Kara B Pappas, A. Bannick +5 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan
Melissa A Hicks, Shagun Kaur, R. Conway, Kara B Pappas +1 more
20210 citations
Semantic Scholar
Methionine Adenosyltransferase I/III Deficiency: Long-Term Follow-up and Treatment of 3 Adult Siblings.
A. Bannick, S. Chase, Alyson E. Miner, M. Seeterlin +1 more
2020European Journal of Medical Genetics0 citations
Semantic Scholar
A 77‐year‐old Woman with a Right Cerebellar Lesion
R. Conway, Vesna Kaluza, K. Schwartz, Howard T. Chang
2019Brain Pathology0 citations Open access
Semantic Scholar
Figure 2. [Features of MCAP syndrome. A...].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Table 4. [Select PIK3CA Pathogenic Variants Causing PIK3CA-Related Overgrowth Discussed in This GeneReview].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Table 1. [Findings in MCAP Syndrome].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Figure 3. [Characteristic brain MRI of MCAP...].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Figure 1. [Features of MCAP syndrome. Photographs...].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Table 2. [Classic Features of CLOVES Syndrome and Fibroadipose Hyperplasia (FH)].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Table 5. [Common Cancer-Related PIK3CA Mutations Reported in COSMIC Database].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Figure 4. [Features of CLOVES syndrome in...].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
Table 3. [Summary of Molecular Genetic Testing Used in PIK3CA-associated Segmental Overgrowth].
G. Mirzaa, R. Conway, J. Graham, W. Dobyns
20130 citations
Semantic Scholar
New legal model suggested for DNA samples given to biobanks
R. Conway
2011American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
A patient with TCIRG1‐related infantile osteopetrosis presenting with congenital anomalies: Chance association or a case for pleiotropy?
R. Conway, Rena E. Falk
2007American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
114 A CASE OF AUTOSOMAL RECESSIVE INFANTILE OSTEOPETROSIS DUE TO MUTATION IN TCIRG1 PRESENTING WITH MULTIPLE CONGENITAL ANOMALIES.
R. Conway, Ralph S. Lachman, C. Hurvitz, R. Falk
2006Journal of Investigative Medicine0 citations
Semantic Scholar
132 THE FEMALE PHENOTYPE OF OTO-PALATO-DIGITAL SYNDROME TYPE 2— A REVIEW AND REPORT OF POSSIBLE NEW FEATURES
R. Conway, J. M. Graham, R. Falk
2005Journal of Investigative Medicine0 citations
Semantic Scholar

Frequent co-authors

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W. Dobyns×14
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W. Dobyns — researcher profile on SciRah
G. Mirzaa×13
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G. Mirzaa — researcher profile on SciRah
J. Graham×13
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J. Graham — researcher profile on SciRah
A. Bannick×5
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A. Bannick — researcher profile on SciRah

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Kara B Pappas — researcher profile on SciRah

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K. Gripp — researcher profile on SciRah

J. M. Graham×3

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J. M. Graham — researcher profile on SciRah

M. Seeterlin×3

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M. Seeterlin — researcher profile on SciRah

Nancy Kramer×2

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Nancy Kramer — researcher profile on SciRah

Julie L. Lauzon×2

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Julie L. Lauzon — researcher profile on SciRah

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J. Reggin — researcher profile on SciRah

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T. Lerman-Sagie — researcher profile on SciRah