D. L. Polla

发表

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2017, Genetics in Medicine.

A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

B. D. de Vries, H. van Bokhoven, A. D. de Brouwer, 2019, Molecular genetics & genomic medicine.

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

R. Pogue, R. W. Pereira, C. C. Fernandes, 2015, PloS one.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

J. Schuurs-Hoeijmakers, S. Antonarakis, R. Płoski, 2021, Genetics in Medicine.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

D. Grozeva, J. Veltman, T. O’Connor, 2016, Molecular Psychiatry.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

R. Pfundt, B. D. de Vries, E. Zackai, 2020, Genetics in Medicine.

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.

R. Pfundt, Pedro Rebelo-Guiomar, M. Minczuk, 2018, American journal of human genetics.

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

A. Palotie, M. Kurki, I. Järvelä, 2019, European Journal of Human Genetics.

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.

D. Wieczorek, S. Riazuddin, Z. Ahmed, 2019, American journal of human genetics.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Bi-allelic variants in the ER quality control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

E. Zackai, D. Rader, S. Ellard, 2021, American journal of human genetics.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2018, Genetics in Medicine.