M. Willis

发表

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

J. Rosenfeld, H. Hakonarson, J. Lupski, 2019, Brain : a journal of neurology.

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

J. Vincent, M. Willis, T. Sheikh, 2013, Orphanet Journal of Rare Diseases.

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

C. Eng, B. Maranda, F. Scaglia, 2009, Molecular genetics and metabolism.

Genetic testing costs and compliance with clinical best practices

M. Willis, M. Lutgendorf, A. Harding, 2020, Journal of genetic counseling.

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.

A. Bayat, A. Fortuna, M. Willis, 2022, European journal of medical genetics.

122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.

L. Bird, Marilyn C. Jones, M. Willis, 2006, Journal of Investigative Medicine.

Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency

W. Nyhan, J. Gangoiti, B. Barshop, 2009, Journal of Inherited Metabolic Disease.

Natural history of prenatally diagnosed 46,X,isodicentric Y

L. Bird, M. Willis, M. Jones, 2006, Prenatal diagnosis.

Chromosomal loss of 3q26.3‐3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

S. South, E. Lyon, L. Rowe, 2012, American journal of medical genetics. Part A.

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Joshua L. Deignan, S. Nelson, W. Grody, 2015, American journal of human genetics.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly

C. Stratakis, D. Hadley, M. Muenke, 2014, Journal of Medical Genetics.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Kiely N. James, A. Fatemi, M. Tarnopolsky, 2019, The Journal of clinical investigation.

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

V. Sutton, W. Nyhan, M. Bennett, 2008, Molecular genetics and metabolism.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

A Fatal Case of Cor Pulmonale with Undetected Chronic Hypoventilation in an Infant with a Known Congenital Myopathy

M. Willis, John M. Holst, 2012, Case reports in pediatrics.

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

D. Pineda-Alvarez, A. Gropman, D. Hadley, 2012, Molecular Syndromology.

328 NATURAL HISTORY OF PRENATALLY DIAGNOSED 46,X,ISODICENTRIC Y

L. Bird, M. Willis, M. Jones, 2005, Journal of Investigative Medicine.

A case of familial exudative vitreoretinopathy identified after genetic testing.

M. Willis, S. McClatchey, K. Miller, 2015, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.

J. Abdenur, R. Haas, S. Dhar, 2009, Molecular genetics and metabolism.

Large saccular intracranial aneurysm in a child with RASA1-associated capillary malformation–arteriovenous malformation syndrome: illustrative case

V. Ravindra, M. Weinberger, M. Willis, 2023, Journal of Neurosurgery: Case Lessons.