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J. Milunsky · SciRah

Researcher profile · Semantic Scholar

J. Milunsky

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J. Milunsky — researcher profile on SciRah

h-index: 34
Works: 130
Citations: 4,686

Most-cited papers

Clinical Genetic Testing for Patients With Autism Spectrum Disorders
Yi-Ping Shen, K. Dies, I. Holm, Carolyn Bridgemohan +31 more
2010Pediatrics408 citations Open access
Semantic Scholar
TFAP2A mutations result in branchio-oculo-facial syndrome.
J. Milunsky, Thomas A. Maher, Ge-Ping Zhao, A. Roberts +7 more
2008American Journal of Human Genetics230 citations Open access
Semantic Scholar
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
D. Margolin, M. Kousi, Yee-Ming Chan, Elaine T. Lim +17 more
2013New England Journal of Medicine226 citations Open access
Semantic Scholar
Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
G. Santen, E. Aten, A. T. Vulto-van Silfhout, C. Pottinger +76 more
2013Human Mutation216 citations Open access
Semantic Scholar
Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood
D. Ize-Ludlow, James Douglas Allan Gray, M. Sperling, E. Berry-Kravis +4 more
2007Pediatrics193 citations
Semantic Scholar
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
F. Hamdan, H. Daoud, A. Piton, J. Gauthier +12 more
2011Biological Psychiatry192 citations
Semantic Scholar
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
D. Butcher, C. Cytrynbaum, A. Turinsky, Michelle T. Siu +20 more
2017American Journal of Human Genetics180 citations Open access
Semantic Scholar
A Neuroligin-4 Missense Mutation Associated With Autism Impairs Neuroligin-4 Folding and ER Export
Chen Zhang, J. Milunsky, Stephanie Newton, J. Ko +8 more
2009Journal of Neuroscience174 citations Open access
Semantic Scholar
LADD syndrome is caused by FGF10 mutations
J. Milunsky, G. Zhao, Thomas A. Maher, R. Colby +1 more
2006Clinical Genetics150 citations
Semantic Scholar
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations.
T. McCallum, J. Milunsky, R. Munarriz, R. Carson +2 more
2001Human Reproduction141 citations Open access
Semantic Scholar
Autism spectrum disorders: clinical and research frontiers
E. Caronna, J. Milunsky, H. Tager-Flusberg
2008Archives of Disease in Childhood135 citations
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
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
P. J. van der Sluijs, S. Jansen, S. Vergano, Miho Adachi-Fukuda +101 more
2018Genetics in Medicine125 citations Open access
Semantic Scholar
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
David J. Brown, Theresa B. Kim, E. Petty, C. Downs +5 more
2002American Journal of Human Genetics106 citations Open access
Semantic Scholar
Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC‐FISH
J. Milunsky, X.-L. Huang
2003Clinical Genetics90 citations
Semantic Scholar
Genetic Disorders and the Fetus
A. Milunsky, J. Milunsky
200985 citations
Semantic Scholar
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
J. Milunsky, Thomas A. Maher, Virginia V. Michels, A. Milunsky
2001American journal of medical genetics77 citations
Semantic Scholar
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.
L. A. Flore, J. Milunsky
2012Seminars in Pediatric Neurology74 citations
Semantic Scholar
Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome
J. Milunsky, Tom M. Maher, Ge-Ping Zhao, Zhenyuan Wang +32 more
2011American Journal of Medical Genetics. Part A72 citations Open access
Semantic Scholar
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
F. Sekiguchi, Y. Tsurusaki, N. Okamoto, K. W. Teik +75 more
2019Journal of Human Genetics64 citations Open access
Semantic Scholar
A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism
Xin-Li Huang, Ying S. Zou, Thomas A. Maher, Stephanie Newton +1 more
2010American Journal of Medical Genetics. Part A58 citations
Semantic Scholar
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome
Seema M. Jamal, Raveen K. Basran, Stephanie Newton, Zhenyuan Wang +1 more
2010American Journal of Medical Genetics. Part A57 citations
Semantic Scholar
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X‐linked dominant Conradi‐Hunermann‐Happle syndrome and a mutation in EBP
J. Milunsky, Thomas A. Maher, A. Metzenberg
2003American Journal of Medical Genetics. Part A56 citations
Semantic Scholar
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.
Zhenyuan Wang, J. Milunsky, M. Yamin, Thomas A. Maher +2 more
2002Human Reproduction51 citations
Semantic Scholar
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G. Drivas, Dong Li, Divya R. Nair, J. Alaimo +61 more
2020European Journal of Human Genetics47 citations Open access
Semantic Scholar
Diagnosis of Chronic Intestinal Pseudo-Obstruction & Megacystis by Sequencing the ACTG2 Gene
A. Milunsky, C. Baldwin, Xiao-Ying Zhang, Daniel Primack +2 more
2017Journal of Pediatric Gastroenterology and Nutrition - JPGN46 citations Open access
Semantic Scholar
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
Molly B. Sheridan, T. Kato, C. Haldeman-Englert, G. Jalali +14 more
2010American Journal of Human Genetics46 citations Open access
Semantic Scholar
XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease
J. Milunsky, Thomas A. Maher, BA Loose, Basil T. Darras +1 more
2003Clinical Genetics44 citations Open access
Semantic Scholar
Connexin-30 Deletion Analysis in Connexin-26 Heterozygotes
Victoria A. Stevenson, Masamichi Ito, J. Milunsky
2003Genetic Testing37 citations
Semantic Scholar
The syndrome of hypoparathyroidism, deafness, and renal anomalies.
J. Upadhyay, Devin W. Steenkamp, J. Milunsky
2013Endocrine Practice36 citations
Semantic Scholar
The Genetics of Benign Paroxysmal Torticollis of Infancy
Meyeon Shin, Laurie M. Douglass, J. Milunsky, N. Rosman
2016Journal of Child Neurology34 citations
Semantic Scholar
The Value of MLPA in Waardenburg Syndrome
J. Milunsky, Thomas A. Maher, Masamichi Ito, A. Milunsky
2007Genetic Testing33 citations
Semantic Scholar
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing
W. Dong, C. Baldwin, Jungmin Choi, J. Milunsky +4 more
2019Clinical Genetics30 citations
Semantic Scholar
Prenatal molecular diagnosis of tuberous sclerosis complex.
A. Milunsky, Masamichi Ito, Thomas A. Maher, Maureen A. Flynn +1 more
2009American Journal of Obstetrics and Gynecology29 citations
Semantic Scholar
Fragile X carrier screening and spinocerebellar ataxia in older males
J. Milunsky, Thomas A. Maher
2004American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
Prenatal Diagnosis of Sex Chromosome Abnormalities
J. Milunsky
2010Genetic Disorders and the Fetus26 citations
Semantic Scholar
Evidence for locus heterogeneity in the Camurati–Engelmann (DPD1) Syndrome
Jacqueline T. Hecht, S. Blanton, S. Broussard, A. Scott +2 more
2001Clinical Genetics26 citations
Semantic Scholar
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene
A. Dumitrescu, J. Milunsky, Susannah Q. Longmuir, A. Drack
2012Ophthalmic Genetics23 citations
Semantic Scholar
Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis
H. Wyandt, V. Tonk, Xin-Li Huang, A. T. Evans +2 more
2006Fetal Diagnosis and Therapy23 citations
Semantic Scholar
Mosaic down syndrome in a patient with low‐level mosaicism detected by microarray
Eyby Leon, Ying S. Zou, J. Milunsky
2010American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene
A. Milunsky, S. Shim, Masamichi Ito, R. Jaekle +3 more
2005Prenatal Diagnosis21 citations
Semantic Scholar
Genetic Counseling: Preconception, Prenatal, and Perinatal
A. Milunsky, J. Milunsky
2010Genetic Disorders and the Fetus19 citations
Semantic Scholar
Mutation Analysis in Rett Syndrome
J. Milunsky, R. Lebo, Tohru Ikuta, Thomas A. Maher +2 more
2001Genetic Testing19 citations
Semantic Scholar
Further delineation of the critical region for the 9p‐duplication syndrome
Ying S. Zou, Xin-Li Huang, Masamichi Ito, Stephanie Newton +1 more
2009American Journal of Medical Genetics. Part A18 citations
Semantic Scholar
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
R. Lebo, T. Ikuta, J. Milunsky, A. Milunsky
2001Clinical Genetics15 citations
Semantic Scholar
Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features
Peter Novak, D. Systrom, Sadie P. Marciano, Alexandra Witte +13 more
2025American Journal of Medicine Open14 citations Open access
Semantic Scholar
Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability.
MJ Hajianpour, Hannah M. Bombei, S. Lieberman, Rachael Revell +4 more
2017The Journal of the American Dental Association (1939)14 citations
Semantic Scholar
Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data
Catherine F. Li, Katie Angione, J. Milunsky
2015Microarrays13 citations Open access
Semantic Scholar
Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8
Eyby Leon, Seema M. Jamal, Ying S. Zou, J. Milunsky
2011American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology
W. Uhlmann, M. Peñaherrera, W. Robinson, J. Milunsky +2 more
2015American Journal of Medical Genetics. Part A11 citations Open access
Semantic Scholar

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