M. Cohen

发表

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.

Martin Vingron, Stefan Mundlos, Manuel Holtgrewe, 2020, American journal of human genetics.

Hi-C Identiﬁes Complex Genomic Rearrangements and TAD-Shufﬂing in Developmental Diseases

S. Mundlos, M. Spielmann, M. Vingron, 2020 .

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

R. Pfundt, T. Kleefstra, A. Renieri, 2009, European journal of medical genetics.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

J. Gécz, S. Haas, H. Ropers, 2012, American journal of human genetics.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

M. Gerstein, Fabian Grubert, L. Shaffer, 2009, Proceedings of the National Academy of Sciences.

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

Z. Tümer, N. Tommerup, M. Kirchhoff, 2006, American journal of medical genetics. Part A.

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

E. A. McKenzie, W. Newman, W. Yue, 2022, Frontiers in Genetics.

Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients.

D. Stoppa-Lyonnet, M. López-Trascasa, C. Moraine, 1991, American journal of human genetics.

SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

F. Giuliano, A. Bloch-Zupan, S. Raskin, 2016, Journal of Medical Genetics.

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

R. Adams, P. Wieacker, I. Wieland, 2004, American journal of human genetics.

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

U. Bogdahn, G. Schuierer, J. Winkler, 2007, Neurogenetics.

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

D. Horn, B. Horsthemke, G. Gillessen‐kaesbach, 2004, Human Genetics.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

P. Robinson, S. Mundlos, E. Chouery, 2006, American journal of human genetics.

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature

B. Ertl-Wagner, H. Voss, E. Klopocki, 2007, European Journal of Pediatrics.

Sjörgen-Larsson-Syndrom

J. Ring, W. Rizzo, C. Kraus, 2000, Der Hautarzt.