M. C. Digilio

发表

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

Dong Liu, C. Morris, R. Knutsen, 2022, medRxiv.

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision

A. Novelli, F. Drago, E. Pompei, 2021, American journal of medical genetics. Part A.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

S. Colan, K. Gripp, A. Lin, 2011, American journal of medical genetics. Part A.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Mustafa Tekin, Bruno Dallapiccola, Juan I. Young, 2011, American journal of human genetics.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

A. V. Vulto-van Silfhout, D. Baralle, P. Striano, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

F. Béna, R. Christensen, P. Jouk, 2017, Journal of Medical Genetics.

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature

M. Carella, R. Fischetto, O. Palumbo, 2017, American journal of medical genetics. Part A.

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

M. Di Stazio, C. Willoughby, A. Novelli, 2023, Italian journal of dermatology and venereology.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .